Variant report

Variant	nsv872206
Chromosome Location	chr1:144544101-144881389
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2686)
CpG islands
(count:1464)
Chromatin interactive
region (count:64)
LncRNA
region (count:158)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

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No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:144853386-144853575	HepG2	liver:	n/a	n/a
2	BATF	chr1:144822457-144822900	GM12878	blood:	n/a	n/a
3	BATF	chr1:144679564-144679880	GM12878	blood:	n/a	n/a
4	BATF	chr1:144604582-144604786	GM12878	blood:	n/a	n/a
5	BATF	chr1:144829180-144829396	GM12878	blood:	n/a	n/a
6	BATF	chr1:144615131-144615468	GM12878	blood:	n/a	n/a
7	BATF	chr1:144822461-144822911	GM12878	blood:	n/a	n/a
8	BATF	chr1:144811689-144812035	GM12878	blood:	n/a	n/a
9	BATF	chr1:144614551-144615001	GM12878	blood:	n/a	n/a
10	BATF	chr1:144570308-144570462	GM12878	blood:	n/a	n/a
11	BATF	chr1:144690796-144691031	GM12878	blood:	n/a	n/a
12	BATF	chr1:144567749-144568256	GM12878	blood:	n/a	n/a
13	BATF	chr1:144840227-144840482	GM12878	blood:	n/a	n/a
14	BATF	chr1:144594146-144594619	GM12878	blood:	n/a	n/a
15	BATF	chr1:144572712-144572908	GM12878	blood:	n/a	n/a
16	BATF	chr1:144583193-144583534	GM12878	blood:	n/a	n/a
17	BATF	chr1:144839402-144839606	GM12878	blood:	n/a	n/a
18	BATF	chr1:144828408-144829114	GM12878	blood:	n/a	n/a
19	BATF	chr1:144679543-144679819	GM12878	blood:	n/a	n/a
20	BATF	chr1:144593349-144593687	GM12878	blood:	n/a	n/a
21	BATF	chr1:144829689-144829978	GM12878	blood:	n/a	n/a
22	BATF	chr1:144617485-144617685	GM12878	blood:	n/a	n/a
23	BATF	chr1:144816815-144817082	GM12878	blood:	n/a	n/a
24	BATF	chr1:144618572-144618830	GM12878	blood:	n/a	n/a
25	BATF	chr1:144567866-144568091	GM12878	blood:	n/a	n/a
26	BATF	chr1:144816769-144817077	GM12878	blood:	n/a	n/a
27	BATF	chr1:144621396-144621792	GM12878	blood:	n/a	n/a
28	BATF	chr1:144614537-144614797	GM12878	blood:	n/a	n/a
29	BATF	chr1:144618840-144619109	GM12878	blood:	n/a	n/a
30	BATF	chr1:144672666-144672904	GM12878	blood:	n/a	n/a
31	BATF	chr1:144811804-144812040	GM12878	blood:	n/a	n/a
32	BATF	chr1:144615010-144615375	GM12878	blood:	n/a	n/a
33	BATF	chr1:144829153-144829560	GM12878	blood:	n/a	n/a
34	BATF	chr1:144618285-144618435	GM12878	blood:	n/a	n/a
35	BATF	chr1:144828481-144829126	GM12878	blood:	n/a	n/a
36	BATF	chr1:144690283-144690581	GM12878	blood:	n/a	chr1:144690289-144690297 chr1:144690402-144690411
37	BATF	chr1:144594992-144595236	GM12878	blood:	n/a	n/a
38	BATF	chr1:144583250-144583514	GM12878	blood:	n/a	n/a
39	BCL11A	chr1:144618887-144619298	GM12878	blood:	n/a	n/a
40	BCL11A	chr1:144593251-144593513	GM12878	blood:	n/a	n/a
41	BCL11A	chr1:144828835-144829095	GM12878	blood:	n/a	n/a
42	BCL11A	chr1:144829792-144829953	GM12878	blood:	n/a	n/a
43	BCL11A	chr1:144592484-144592707	GM12878	blood:	n/a	n/a
44	BCL11A	chr1:144572660-144573001	GM12878	blood:	n/a	chr1:144572970-144572979
45	BCL11A	chr1:144594908-144595186	GM12878	blood:	n/a	n/a
46	BCL11A	chr1:144829682-144829901	GM12878	blood:	n/a	n/a
47	BCL11A	chr1:144687719-144687979	GM12878	blood:	n/a	n/a
48	BCL11A	chr1:144615162-144615415	GM12878	blood:	n/a	n/a
49	BCL11A	chr1:144690657-144691064	GM12878	blood:	n/a	n/a
50	BCL11A	chr1:144567713-144568250	GM12878	blood:	n/a	chr1:144568132-144568145

(count:1464 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:144593903-144593953	T-47D	breast:	n/a
2	chr1:144597135-144597185	BJ	skin:	n/a
3	chr1:144619354-144619404	LNCaP	prostate:	n/a
4	chr1:144567670-144567720	HCT-116	colon:	n/a
5	chr1:144567670-144567720	HepG2	liver:	n/a
6	chr1:144815302-144815352	HAEpiC	amniotic membrane:	n/a
7	chr1:144859929-144859979	A549	lung:	n/a
8	chr1:144597135-144597185	PrEC	prostate:	n/a
9	chr1:144815915-144815965	HCPEpiC	choroid plexus:	n/a
10	chr1:144594107-144594157	Caco-2	colon:	n/a
11	chr1:144859929-144859979	GM12892	blood:	n/a
12	chr1:144595718-144595768	GM12891	blood:	n/a
13	chr1:144592392-144592442	SAEC	small airway:	n/a
14	chr1:144594259-144594309	HL-60	blood:	n/a
15	chr1:144595718-144595768	BE2_C	brain:	n/a
16	chr1:144815915-144815965	SKMC	muscle:	n/a
17	chr1:144594107-144594157	PANC-1	pancreas:	n/a
18	chr1:144594259-144594309	HPAEpiC	pulmonary alveolar:	n/a
19	chr1:144594006-144594056	HPAEpiC	pulmonary alveolar:	n/a
20	chr1:144595718-144595768	AoSMC	blood vessel:	n/a
21	chr1:144593343-144593393	Caco-2	colon:	n/a
22	chr1:144815915-144815965	AG04449	skin:	fetal
23	chr1:144593341-144593391	SK-N-SH	brain:	n/a
24	chr1:144567670-144567720	HRE	kidney:	n/a
25	chr1:144815302-144815352	HMEC	breast:	n/a
26	chr1:144815915-144815965	GM06990	blood:	n/a
27	chr1:144596061-144596111	SAEC	small airway:	n/a
28	chr1:144567670-144567720	K562	blood:	n/a
29	chr1:144612646-144612696	U87	brain:	n/a
30	chr1:144692074-144692124	SAEC	small airway:	n/a
31	chr1:144814628-144814678	H1-hESC	embryonic stem cell:	embryo
32	chr1:144593341-144593391	ECC-1	luminal epithelium:	n/a
33	chr1:144815302-144815352	HPAEpiC	pulmonary alveolar:	n/a
34	chr1:144815302-144815352	SK-N-SH_RA	brain:	n/a
35	chr1:144852047-144852097	BE2_C	brain:	n/a
36	chr1:144620428-144620478	SK-N-SH	brain:	n/a
37	chr1:144593903-144593953	SKMC	muscle:	n/a
38	chr1:144593343-144593393	IMR90	lung:	fetal
39	chr1:144595718-144595768	AG09309	skin:	n/a
40	chr1:144811373-144811423	CMK	blood:	n/a
41	chr1:144592392-144592442	AoSMC	blood vessel:	n/a
42	chr1:144811373-144811423	ECC-1	luminal epithelium:	n/a
43	chr1:144852047-144852097	HAEpiC	amniotic membrane:	n/a
44	chr1:144593341-144593391	HCM	heart:	n/a
45	chr1:144615272-144615322	HMEC	breast:	n/a
46	chr1:144567670-144567720	MCF10A-Er-Src	breast:	n/a
47	chr1:144597135-144597185	H1-hESC	embryonic stem cell:	embryo
48	chr1:144594006-144594056	GM19239	blood:	n/a
49	chr1:144852047-144852097	HepG2	liver:	n/a
50	chr1:144815302-144815352	AG04450	lung:	fetal

(count:64 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:144542997..144547075-chr2:5772380..5776386,6	MCF-7	breast:
2	chr1:144866768..144869173-chr1:144870721..144874864,3	K562	blood:
3	chr1:144863488..144865055-chr1:144865799..144868536,2	K562	blood:
4	chr1:144535050..144535880-chr1:144697650..144698167,2	MCF-7	breast:
5	chr1:17231777..17233966-chr1:144546760..144549035,2	K562	blood:
6	chr1:144594107..144594639-chr1:148556298..148556816,2	Hela-S3	cervix:
7	chr1:144589128..144591973-chr1:144594157..144597024,2	MCF-7	breast:
8	chr1:144593744..144594609-chr1:148555862..148556622,3	HCT-116	colon:
9	chr1:144869766..144871814-chr1:144872899..144874781,2	MCF-7	breast:
10	chr1:144853163..144855008-chr1:144856698..144858225,2	K562	blood:
11	chr1:144547858..144551257-chr2:5777928..5781561,5	MCF-7	breast:
12	chr1:144545457..144547047-chr2:5776987..5778593,2	MCF-7	breast:
13	chr1:144867331..144870453-chr1:144870555..144873293,3	MCF-7	breast:
14	chr1:144589128..144591973-chr1:144594157..144597024,2	MCF-7	breast:
15	chr1:144870344..144874042-chr1:144875186..144878291,5	MCF-7	breast:
16	chr1:144858037..144860054-chr1:144867098..144869572,2	K562	blood:
17	chr1:144687969..144690729-chr1:144930762..144933228,2	MCF-7	breast:
18	chr1:144532670..144534981-chr1:144549798..144552960,4	K562	blood:
19	chr1:144532845..144535745-chr1:144588641..144591361,2	K562	blood:
20	chr1:144545436..144547669-chr1:149222363..149225506,3	K562	blood:
21	chr1:144590246..144591117-chr1:148550866..148551429,2	MCF-7	breast:
22	chr1:144547515..144550528-chr2:5777632..5780972,4	MCF-7	breast:
23	chr1:144545538..144548159-chr1:144550246..144552786,2	MCF-7	breast:
24	chr1:144696978..144697597-chr1:144972550..144973477,2	MCF-7	breast:
25	chr1:144879410..144881863-chr1:144882763..144884923,2	K562	blood:
26	chr1:144874282..144876288-chr1:144878980..144880964,2	K562	blood:
27	chr1:144858012..144861709-chr1:144865100..144867014,3	K562	blood:
28	chr1:144593716..144594289-chr1:148555892..148556883,2	MCF-7	breast:
29	chr1:144542148..144544769-chr1:144547258..144549034,2	K562	blood:
30	chr1:144861814..144863936-chr1:144885385..144887357,2	MCF-7	breast:
31	chr1:144709036..144711011-chr1:144986149..144988620,2	K562	blood:
32	chr1:144594105..144596972-chr1:148555192..148558576,3	MCF-7	breast:
33	chr1:144869766..144871814-chr1:144872899..144874781,2	MCF-7	breast:
34	chr1:144856713..144858353-chr1:144872499..144875477,2	K562	blood:
35	chr1:144873625..144876777-chr1:144880154..144883711,4	MCF-7	breast:
36	chr1:144590335..144591846-chr1:148550727..148552604,2	MCF-7	breast:
37	chr1:144543935..144546145-chr1:149223071..149224950,2	K562	blood:
38	chr1:144858012..144861709-chr1:144865100..144867014,3	K562	blood:
39	chr1:144877869..144879998-chr1:144892579..144894748,2	MCF-7	breast:
40	chr1:144858037..144860054-chr1:144867098..144869572,2	K562	blood:
41	chr1:144870185..144872708-chr1:149042100..149043905,2	MCF-7	breast:
42	chr1:144856713..144858353-chr1:144872499..144875477,2	K562	blood:
43	chr1:144855730..144858367-chr1:144880531..144882326,2	MCF-7	breast:
44	chr1:144569499..144571015-chr1:149221821..149223590,2	MCF-7	breast:
45	chr1:144593856..144595655-chr1:148555098..148556798,2	MCF-7	breast:
46	chr1:144545538..144548159-chr1:144550246..144552786,2	MCF-7	breast:
47	chr1:144566036..144568858-chr1:149222714..149224750,2	MCF-7	breast:
48	chr1:144532687..144536786-chr1:144548928..144552960,5	K562	blood:
49	chr1:144542791..144546909-chr2:5773043..5778423,6	MCF-7	breast:
50	chr1:144547084..144549074-chr2:5776610..5778586,4	K562	blood:

(count:158 , 50 per page) page: 1 2 3 4

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL592284.1-1	chr1:144618082-144618296	ENSG00000225241
2	lnc-AL592284.1-1	chr1:144619883-144620094	NR_102405
3	lnc-AL592284.1-1	chr1:144606369-144606510	ENSG00000225241
4	lnc-PDE4DIP-2	chr1:144852299-144852499	NONHSAT005852
5	lnc-AL592284.1-1	chr1:144815936-144816008	NR_102405
6	lnc-AL592284.1-1	chr1:144596451-144596473	NONHSAT005825
7	lnc-AL592284.1-1	chr1:144615096-144615303	ENSG00000225241
8	lnc-PDE4DIP-2	chr1:144851946-144852499	NONHSAT005851
9	lnc-PDE4DIP-2	chr1:144837813-144837850	NONHSAT005844
10	lnc-PPIAL4B-8	chr1:144847426-144847494	NONHSAT005850
11	lnc-PPIAL4B-6	chr1:144857640-144857728	NONHSAT005854
12	lnc-AL592284.1-1	chr1:144606369-144606510	ENSG00000225241
13	lnc-PDE4DIP-2	chr1:144837129-144837423	NONHSAT005844
14	lnc-AL592284.1-1	chr1:144618082-144618296	ENSG00000225241
15	lnc-AL592284.1-1	chr1:144606838-144607342	NONHSAT005826
16	lnc-AL592284.1-1	chr1:144604417-144604508	ENSG00000225241
17	lnc-AL592284.1-1	chr1:144619883-144620094	ENSG00000225241
18	lnc-AL592284.1-1	chr1:144618082-144618296	ENSG00000225241
19	lnc-AL592284.1-1	chr1:144815936-144816049	NONHSAT005837
20	lnc-AL592284.1-1	chr1:144619883-144620039	ENSG00000225241
21	lnc-AL592284.1-1	chr1:144604410-144604508	ENSG00000225241
22	lnc-AL592284.1-1	chr1:144614532-144614993	ENSG00000225241
23	lnc-AL592284.1-1	chr1:144619347-144619419	ENSG00000225241
24	lnc-AL592284.1-1	chr1:144816316-144816795	NONHSAT005838
25	lnc-AL592284.1-1	chr1:144606369-144606510	NONHSAT005825
26	lnc-AL592284.1-1	chr1:144606369-144606510	NONHSAT005826
27	lnc-AL592284.1-1	chr1:144606129-144606278	ENSG00000225241
28	lnc-PPIAL4B-8	chr1:144848404-144848435	NONHSAT005850
29	lnc-AL592284.1-1	chr1:144598512-144598780	NONHSAT005822
30	lnc-AL592284.1-1	chr1:144614959-144615303	NR_102405
31	lnc-AL592284.1-1	chr1:144598614-144598780	ENSG00000225241
32	lnc-NBPF9-2	chr1:144874945-144874987	ENSG00000254913.1
33	lnc-AL592284.1-1	chr1:144598655-144598780	ENSG00000225241
34	lnc-PDE4DIP-4	chr1:144832200-144833038	NONHSAT005840
35	lnc-AL592284.1-1	chr1:144615096-144615303	ENSG00000225241
36	lnc-AL592284.1-1	chr1:144816473-144816678	NR_102405
37	lnc-AL592284.1-1	chr1:144813742-144813844	NR_102405
38	lnc-AL592284.1-1	chr1:144621447-144621656	ENSG00000225241
39	lnc-AL592284.1-1	chr1:144619883-144620094	ENSG00000225241
40	lnc-AL592284.1-1	chr1:144825353-144825525	NR_102405
41	lnc-NBPF9-2	chr1:144877872-144878163	ENSG00000254913.1
42	lnc-PPIAL4B-8	chr1:144869790-144869871	NONHSAT005850
43	lnc-AL592284.1-1	chr1:144606938-144607061	ENSG00000225241
44	lnc-NBPF9-1	chr1:144858211-144858781	ENSG00000255148.1
45	lnc-AL592284.1-1	chr1:144612349-144612562	NONHSAT005822
46	lnc-PDE4DIP-3	chr1:144833913-144834808	NONHSAT005843
47	lnc-AL592284.1-1	chr1:144617150-144617252	ENSG00000225241
48	lnc-AL592284.1-1	chr1:144596281-144596473	NONHSAT005823
49	lnc-AL592284.1-1	chr1:144621447-144621656	ENSG00000225241
50	lnc-NBPF9-2	chr1:144877226-144877296	ENSG00000254913.1

No data

(count:1 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PDE4DIP	hsa-let-7a-5p	chr1:144851770-144851794

Variant related genes	Relation type
NBPF9	TF binding region
ENSG00000225241	TF binding region
PFN1P2	TF binding region
PDE4DIP	TF binding region
ENSG00000255148	TF binding region
ENSG00000254913	TF binding region
ENSG00000266739	TF binding region
ENSG00000215861	TF binding region
ENSG00000254539	TF binding region
NBPF9	CpG island
ENSG00000225241	CpG island
PFN1P2	CpG island
PDE4DIP	CpG island
ENSG00000255148	CpG island
ENSG00000254913	CpG island
ENSG00000266739	CpG island
ENSG00000215861	CpG island
ENSG00000254539	CpG island
ENSG00000266739	chromatin interactions
ENSG00000255148	chromatin interactions
ENSG00000178104	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000243452	chromatin interactions
ENSG00000254913	chromatin interactions
ENSG00000201699	chromatin interactions

Extended variants
information (count: 8032 )
Associated
traits (count: 170 )

Variant overlapped rSNPs/rCNVs (count:8032 , 50 per page) page: 1 2 3 4 5 6 7 ... 161

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550379	chr1:144544101-144544102	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs141208411	chr1:144544126-144544127	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs369749254	chr1:144544238-144544239	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs587725006	chr1:144544243-144544244	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs374539175	chr1:144544246-144544247	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs111688530	chr1:144544259-144544260	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs587676013	chr1:144544299-144544300	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs375427035	chr1:144544305-144544306	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs587611173	chr1:144544359-144544360	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs75867514	chr1:144544392-144544393	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs200069665	chr1:144544416-144544417	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs9441115	chr1:144544432-144544433	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs587663029	chr1:144544436-144544437	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs587742971	chr1:144544448-144544449	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs79252703	chr1:144544458-144544459	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs199921285	chr1:144544473-144544474	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs587667945	chr1:144544480-144544481	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs587727016	chr1:144544502-144544503	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs9441116	chr1:144544517-144544518	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs587618777	chr1:144544523-144544524	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs12088661	chr1:144544557-144544558	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs587762253	chr1:144544586-144544587	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs587727915	chr1:144544593-144544594	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs12408880	chr1:144544608-144544609	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs587653887	chr1:144544620-144544621	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs9441163	chr1:144544632-144544633	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs12407437	chr1:144544642-144544643	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs148781562	chr1:144544653-144544654	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs587711321	chr1:144544674-144544675	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs78248092	chr1:144544678-144544679	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs201745489	chr1:144544682-144544683	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs587646515	chr1:144544683-144544684	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs4247157	chr1:144544725-144544726	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs146666089	chr1:144544730-144544731	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs139413663	chr1:144544734-144544735	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs587647411	chr1:144544744-144544745	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs587712328	chr1:144544745-144544746	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs587606775	chr1:144544786-144544787	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs587640512	chr1:144544787-144544788	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs587597833	chr1:144544789-144544790	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs1938242	chr1:144544817-144544818	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs61801166	chr1:144544875-144544876	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs587670219	chr1:144544926-144544927	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs587722028	chr1:144544988-144544989	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs587605932	chr1:144545027-144545028	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs587653638	chr1:144545036-144545037	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs61801167	chr1:144545057-144545058	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs200698013	chr1:144545059-144545060	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs587747217	chr1:144545084-144545085	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs587756257	chr1:144545104-144545105	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:170)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17142309	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Williams Syndrome	20824207	CNVD
Tetralogy of Fallot	22912587	CNVD
Autism	18522746	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Schizophrenia	19197363	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Schizophrenia	23813976	CNVD
Lung adenocarcinoma	21935476	CNVD
idiopathic generalized epilepsy	19843651	CNVD
Schizophrenia	19843651	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Autism	20531469	CNVD

Chromatin state (count:3039 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144540000-144546800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:144540000-144546800	Weak transcription	Spleen	Spleen
3	chr1:144540200-144544600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:144540200-144545600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:144540200-144546800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:144540200-144546800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:144540200-144546800	Weak transcription	K562	blood
8	chr1:144540400-144545200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:144540400-144545200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:144541400-144544400	Active TSS	HSMMtube	muscle
11	chr1:144541400-144546800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr1:144541400-144547200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:144541400-144551000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:144541600-144546200	Weak transcription	NH-A	brain
15	chr1:144541600-144546200	Weak transcription	NHLF	lung
16	chr1:144541800-144546000	Weak transcription	Osteobl	bone
17	chr1:144543600-144546400	Enhancers	HMEC	breast
18	chr1:144544000-144545200	Weak transcription	NHDF-Ad	bronchial
19	chr1:144544000-144545400	Weak transcription	HSMM	muscle
20	chr1:144544400-144545200	Enhancers	HSMMtube	muscle
21	chr1:144544600-144544800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:144544800-144545200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:144545200-144545600	Flanking Active TSS	HSMMtube	muscle
24	chr1:144545200-144546400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:144545200-144546800	Enhancers	NHDF-Ad	bronchial
26	chr1:144545200-144547200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:144545200-144547200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:144545400-144547200	Enhancers	HSMM	muscle
29	chr1:144545600-144546200	Enhancers	HSMMtube	muscle
30	chr1:144545800-144546600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:144546000-144546800	Enhancers	Osteobl	bone
32	chr1:144546200-144546400	Flanking Active TSS	HSMMtube	muscle
33	chr1:144546200-144546800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:144546200-144546800	Enhancers	NHLF	lung
35	chr1:144546200-144547000	Enhancers	NH-A	brain
36	chr1:144546200-144547200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr1:144546400-144546800	Enhancers	HSMMtube	muscle
38	chr1:144546600-144547200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:144546800-144547000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:144546800-144547000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:144546800-144547000	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr1:144546800-144547000	Bivalent Enhancer	Fetal Heart	heart
43	chr1:144546800-144547000	Bivalent Enhancer	Fetal Muscle Leg	muscle
44	chr1:144546800-144547000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
45	chr1:144546800-144547000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
46	chr1:144546800-144547000	Flanking Active TSS	NHDF-Ad	bronchial
47	chr1:144546800-144547000	Flanking Active TSS	Osteobl	bone
48	chr1:144546800-144547200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr1:144546800-144547200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:144546800-144547200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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