Variant report

Variant	esv1832561
Chromosome Location	chr1:144590080-144830258
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1664)
CpG islands
(count:1282)
Chromatin interactive
region (count:15)
LncRNA
region (count:122)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1664 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr1:144604582-144604786	GM12878	blood:	n/a	n/a
2	BATF	chr1:144816769-144817077	GM12878	blood:	n/a	n/a
3	BATF	chr1:144811689-144812035	GM12878	blood:	n/a	n/a
4	BATF	chr1:144829153-144829560	GM12878	blood:	n/a	n/a
5	BATF	chr1:144594146-144594619	GM12878	blood:	n/a	n/a
6	BATF	chr1:144816815-144817082	GM12878	blood:	n/a	n/a
7	BATF	chr1:144672666-144672904	GM12878	blood:	n/a	n/a
8	BATF	chr1:144618285-144618435	GM12878	blood:	n/a	n/a
9	BATF	chr1:144615010-144615375	GM12878	blood:	n/a	n/a
10	BATF	chr1:144829689-144829978	GM12878	blood:	n/a	n/a
11	BATF	chr1:144614537-144614797	GM12878	blood:	n/a	n/a
12	BATF	chr1:144822461-144822911	GM12878	blood:	n/a	n/a
13	BATF	chr1:144822457-144822900	GM12878	blood:	n/a	n/a
14	BATF	chr1:144811804-144812040	GM12878	blood:	n/a	n/a
15	BATF	chr1:144828481-144829126	GM12878	blood:	n/a	n/a
16	BATF	chr1:144679543-144679819	GM12878	blood:	n/a	n/a
17	BATF	chr1:144690283-144690581	GM12878	blood:	n/a	chr1:144690289-144690297 chr1:144690402-144690411
18	BATF	chr1:144618572-144618830	GM12878	blood:	n/a	n/a
19	BATF	chr1:144828408-144829114	GM12878	blood:	n/a	n/a
20	BATF	chr1:144621396-144621792	GM12878	blood:	n/a	n/a
21	BATF	chr1:144615131-144615468	GM12878	blood:	n/a	n/a
22	BATF	chr1:144679564-144679880	GM12878	blood:	n/a	n/a
23	BATF	chr1:144690796-144691031	GM12878	blood:	n/a	n/a
24	BATF	chr1:144617485-144617685	GM12878	blood:	n/a	n/a
25	BATF	chr1:144829180-144829396	GM12878	blood:	n/a	n/a
26	BATF	chr1:144614551-144615001	GM12878	blood:	n/a	n/a
27	BATF	chr1:144618840-144619109	GM12878	blood:	n/a	n/a
28	BATF	chr1:144594992-144595236	GM12878	blood:	n/a	n/a
29	BATF	chr1:144593349-144593687	GM12878	blood:	n/a	n/a
30	BCL11A	chr1:144690657-144691064	GM12878	blood:	n/a	n/a
31	BCL11A	chr1:144618530-144618828	GM12878	blood:	n/a	n/a
32	BCL11A	chr1:144687719-144687979	GM12878	blood:	n/a	n/a
33	BCL11A	chr1:144594216-144594609	GM12878	blood:	n/a	n/a
34	BCL11A	chr1:144594908-144595186	GM12878	blood:	n/a	n/a
35	BCL11A	chr1:144672707-144672942	GM12878	blood:	n/a	n/a
36	BCL11A	chr1:144829265-144829496	GM12878	blood:	n/a	n/a
37	BCL11A	chr1:144829792-144829953	GM12878	blood:	n/a	n/a
38	BCL11A	chr1:144592484-144592707	GM12878	blood:	n/a	n/a
39	BCL11A	chr1:144828446-144828898	GM12878	blood:	n/a	n/a
40	BCL11A	chr1:144593251-144593513	GM12878	blood:	n/a	n/a
41	BCL11A	chr1:144614565-144614849	GM12878	blood:	n/a	n/a
42	BCL11A	chr1:144690673-144690958	GM12878	blood:	n/a	n/a
43	BCL11A	chr1:144593207-144593737	GM12878	blood:	n/a	n/a
44	BCL11A	chr1:144618887-144619298	GM12878	blood:	n/a	n/a
45	BCL11A	chr1:144829682-144829901	GM12878	blood:	n/a	n/a
46	BCL11A	chr1:144615162-144615415	GM12878	blood:	n/a	n/a
47	BCL11A	chr1:144690359-144690638	GM12878	blood:	n/a	n/a
48	BCL11A	chr1:144594234-144594691	GM12878	blood:	n/a	n/a
49	BCL11A	chr1:144614491-144614868	GM12878	blood:	n/a	n/a
50	BCL11A	chr1:144618876-144619331	GM12878	blood:	n/a	n/a

(count:1282 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:144597135-144597185	HCF	heart:	n/a
2	chr1:144597135-144597185	HCF	heart:	n/a
3	chr1:144593343-144593393	Caco-2	colon:	n/a
4	chr1:144620428-144620478	Caco-2	colon:	n/a
5	chr1:144612646-144612696	SK-N-SH_RA	brain:	n/a
6	chr1:144597135-144597185	U87	brain:	n/a
7	chr1:144594107-144594157	A549	lung:	n/a
8	chr1:144593341-144593391	ProgFib	skin:	n/a
9	chr1:144595718-144595768	Hepatocyte	liver:	n/a
10	chr1:144811373-144811423	HL-60	blood:	n/a
11	chr1:144811373-144811423	SAEC	small airway:	n/a
12	chr1:144615272-144615322	HUVEC	blood vessel:	n/a
13	chr1:144593903-144593953	Hela-S3	cervix:	n/a
14	chr1:144692074-144692124	K562	blood:	n/a
15	chr1:144595718-144595768	HCT-116	colon:	n/a
16	chr1:144620428-144620478	HRE	kidney:	n/a
17	chr1:144594085-144594135	HIPEpiC	eye:	n/a
18	chr1:144594107-144594157	HMEC	breast:	n/a
19	chr1:144814628-144814678	ProgFib	skin:	n/a
20	chr1:144593343-144593393	A549	lung:	n/a
21	chr1:144815915-144815965	NB4	blood:	n/a
22	chr1:144815915-144815965	HRPEpiC	eye:	n/a
23	chr1:144615272-144615322	MCF10A-Er-Src	breast:	n/a
24	chr1:144619354-144619404	BE2_C	brain:	n/a
25	chr1:144595718-144595768	HCF	heart:	n/a
26	chr1:144594085-144594135	AG09309	skin:	n/a
27	chr1:144595718-144595768	HCPEpiC	choroid plexus:	n/a
28	chr1:144815915-144815965	SAEC	small airway:	n/a
29	chr1:144597135-144597185	AG04449	skin:	fetal
30	chr1:144596061-144596111	GM12892	blood:	n/a
31	chr1:144593341-144593391	HepG2	liver:	n/a
32	chr1:144620428-144620478	HMEC	breast:	n/a
33	chr1:144615272-144615322	HPAEpiC	pulmonary alveolar:	n/a
34	chr1:144692074-144692124	SK-N-SH_RA	brain:	n/a
35	chr1:144612358-144612408	HRPEpiC	eye:	n/a
36	chr1:144612358-144612408	ProgFib	skin:	n/a
37	chr1:144811373-144811423	NH-A	brain:	n/a
38	chr1:144593341-144593391	AG09319	gingival:	n/a
39	chr1:144814628-144814678	HCM	heart:	n/a
40	chr1:144595718-144595768	U87	brain:	n/a
41	chr1:144596061-144596111	HCPEpiC	choroid plexus:	n/a
42	chr1:144594006-144594056	Hela-S3	cervix:	n/a
43	chr1:144597135-144597185	MCF-7	breast:	n/a
44	chr1:144620428-144620478	AG09309	skin:	n/a
45	chr1:144595718-144595768	AoSMC	blood vessel:	n/a
46	chr1:144596061-144596111	AG10803	skin:	n/a
47	chr1:144815915-144815965	HRE	kidney:	n/a
48	chr1:144814628-144814678	GM06990	blood:	n/a
49	chr1:144592392-144592442	HRE	kidney:	n/a
50	chr1:144593341-144593391	HL-60	blood:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:144594107..144594639-chr1:148556298..148556816,2	Hela-S3	cervix:
2	chr1:144709036..144711011-chr1:144986149..144988620,2	K562	blood:
3	chr1:144696978..144697597-chr1:144972550..144973477,2	MCF-7	breast:
4	chr1:144594105..144596972-chr1:148555192..148558576,3	MCF-7	breast:
5	chr1:144590335..144591846-chr1:148550727..148552604,2	MCF-7	breast:
6	chr1:144589128..144591973-chr1:144594157..144597024,2	MCF-7	breast:
7	chr1:144589128..144591973-chr1:144594157..144597024,2	MCF-7	breast:
8	chr1:144535050..144535880-chr1:144697650..144698167,2	MCF-7	breast:
9	chr1:144687969..144690729-chr1:144930762..144933228,2	MCF-7	breast:
10	chr1:144708092..144711018-chr1:144989311..144991763,2	K562	blood:
11	chr1:144593716..144594289-chr1:148555892..148556883,2	MCF-7	breast:
12	chr1:144593744..144594609-chr1:148555862..148556622,3	HCT-116	colon:
13	chr1:144532845..144535745-chr1:144588641..144591361,2	K562	blood:
14	chr1:144593856..144595655-chr1:148555098..148556798,2	MCF-7	breast:
15	chr1:144590246..144591117-chr1:148550866..148551429,2	MCF-7	breast:

(count:122 , 50 per page) page: 1 2 3

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL592284.1-1	chr1:144621447-144621656	ENSG00000225241
2	lnc-AL592284.1-1	chr1:144606369-144606510	ENSG00000225241
3	lnc-AL592284.1-1	chr1:144617150-144617252	ENSG00000225241
4	lnc-AL592284.1-1	chr1:144614840-144614993	ENSG00000225241
5	lnc-AL592284.1-1	chr1:144619883-144620094	ENSG00000225241
6	lnc-AL592284.1-1	chr1:144615096-144615303	ENSG00000225241
7	lnc-AL592284.1-1	chr1:144619347-144619419	ENSG00000225241
8	lnc-AL592284.1-1	chr1:144593907-144593936	ENSG00000225241
9	lnc-AL592284.1-1	chr1:144606369-144606562	NONHSAT005824
10	lnc-AL592284.1-1	chr1:144619883-144620039	ENSG00000225241
11	lnc-AL592284.1-1	chr1:144828541-144830407	NR_102405
12	lnc-AL592284.1-1	chr1:144598512-144598780	NONHSAT005822
13	lnc-AL592284.1-1	chr1:144615096-144615303	ENSG00000225241
14	lnc-AL592284.1-1	chr1:144596281-144596473	NONHSAT005823
15	lnc-AL592284.1-1	chr1:144825353-144825525	NR_102405
16	lnc-AL592284.1-1	chr1:144604478-144604508	ENSG00000225241
17	lnc-AL592284.1-1	chr1:144618082-144618296	ENSG00000225241
18	lnc-AL592284.1-1	chr1:144619883-144620094	NR_102405
19	lnc-AL592284.1-1	chr1:144617150-144617208	NONHSAT139893
20	lnc-AL592284.1-1	chr1:144614959-144615303	NR_102405
21	lnc-AL592284.1-1	chr1:144813742-144813844	NR_102404
22	lnc-AL592284.1-1	chr1:144598391-144598780	NONHSAT005826
23	lnc-AL592284.1-1	chr1:144615096-144615303	ENSG00000225241
24	lnc-AL592284.1-1	chr1:144823813-144823985	NR_102405
25	lnc-AL592284.1-1	chr1:144823128-144823179	NR_102405
26	lnc-AL592284.1-1	chr1:144826235-144826286	NR_102404
27	lnc-AL592284.1-1	chr1:144817966-144818017	NR_102404
28	lnc-AL592284.1-1	chr1:144598651-144598780	ENSG00000225241
29	lnc-AL592284.1-1	chr1:144621447-144621656	ENSG00000225241
30	lnc-AL592284.1-1	chr1:144813742-144813844	NR_102405
31	lnc-AL592284.1-1	chr1:144619347-144619419	NR_102405
32	lnc-AL592284.1-1	chr1:144828973-144830389	NONHSAT005839
33	lnc-AL592284.1-1	chr1:144621447-144621655	ENSG00000225241
34	lnc-AL592284.1-1	chr1:144617150-144617252	NR_102404
35	lnc-AL592284.1-1	chr1:144617150-144617252	ENSG00000225241
36	lnc-AL592284.1-1	chr1:144612349-144612599	ENSG00000225241
37	lnc-AL592284.1-1	chr1:144815936-144816008	NR_102405
38	lnc-AL592284.1-1	chr1:144619347-144619419	NR_102404
39	lnc-AL592284.1-1	chr1:144604478-144604508	ENSG00000225241
40	lnc-AL592284.1-1	chr1:144598512-144598780	ENSG00000225241
41	lnc-AL592284.1-1	chr1:144826933-144827105	NR_102404
42	lnc-AL592284.1-1	chr1:144617150-144617252	ENSG00000225241
43	lnc-AL592284.1-1	chr1:144618082-144618296	ENSG00000225241
44	lnc-AL592284.1-1	chr1:144619347-144619419	ENSG00000225241
45	lnc-AL592284.1-1	chr1:144612349-144612562	NONHSAT005823
46	lnc-AL592284.1-1	chr1:144814560-144814894	NONHSAT005837
47	lnc-AL592284.1-1	chr1:144619347-144619419	ENSG00000225241
48	lnc-AL592284.1-1	chr1:144614532-144614993	ENSG00000225241
49	lnc-AL592284.1-1	chr1:144606369-144606510	ENSG00000225241
50	lnc-AL592284.1-1	chr1:144606369-144606510	NONHSAT005826

No data

Variant related genes	Relation type
PFN1P2	TF binding region
NBPF9	TF binding region
ENSG00000225241	TF binding region
ENSG00000215861	TF binding region
PFN1P2	CpG island
NBPF9	CpG island
ENSG00000225241	CpG island
ENSG00000215861	CpG island
ENSG00000201699	chromatin interactions
ENSG00000243452	chromatin interactions
ENSG00000178104	chromatin interactions

Extended variants
information (count: 4027 )
Associated
traits (count: 169 )

Variant overlapped rSNPs/rCNVs (count:4027 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376836662	chr1:144590122-144590123	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs71229036	chr1:144590136-144590137	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs1698574	chr1:144590210-144590211	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs587727952	chr1:144590274-144590275	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs587635967	chr1:144590314-144590315	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs587711484	chr1:144590316-144590317	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs149637425	chr1:144590319-144590320	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs587627476	chr1:144590324-144590325	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs114870259	chr1:144590331-144590332	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs587703121	chr1:144590355-144590356	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs78764763	chr1:144590361-144590362	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs587761179	chr1:144590412-144590413	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs3009733	chr1:144590430-144590431	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs113124003	chr1:144590431-144590432	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs587629000	chr1:144590441-144590442	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs2938039	chr1:144590470-144590471	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs587696561	chr1:144590474-144590475	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs201495560	chr1:144590480-144590481	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs587748565	chr1:144590522-144590523	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs587651075	chr1:144590545-144590546	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs6663879	chr1:144590603-144590604	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs11586195	chr1:144590610-144590611	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs368704628	chr1:144590612-144590613	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs74683925	chr1:144590614-144590615	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs587708017	chr1:144590629-144590630	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs59569874	chr1:144590644-144590645	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs587611053	chr1:144590677-144590678	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs587642911	chr1:144590684-144590685	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs587722533	chr1:144590685-144590686	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs587599052	chr1:144590709-144590710	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs587674494	chr1:144590725-144590726	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs587735525	chr1:144590827-144590828	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs587606928	chr1:144590846-144590847	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs375305774	chr1:144590854-144590855	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs369280910	chr1:144590855-144590856	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs587686999	chr1:144590869-144590870	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs12085625	chr1:144590894-144590895	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs587645979	chr1:144590896-144590897	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs12082306	chr1:144590897-144590898	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs377007306	chr1:144590924-144590925	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs6666718	chr1:144590946-144590947	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs6671397	chr1:144590968-144590969	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs6666725	chr1:144590972-144590973	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs587732412	chr1:144590980-144590981	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs587617927	chr1:144590981-144590982	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs587691383	chr1:144590983-144590984	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs587752952	chr1:144590992-144590993	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs587650979	chr1:144591013-144591014	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs6674399	chr1:144591019-144591020	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs6666741	chr1:144591025-144591026	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:169)

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

Chromatin state (count:1516 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144589800-144590600	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr1:144590000-144593200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:144590600-144593200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:144592800-144593200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:144593000-144593200	Enhancers	Dnd41	blood
6	chr1:144593000-144593800	Active TSS	Primary hematopoietic stem cells	blood
7	chr1:144593000-144594200	Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr1:144593000-144595400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:144593200-144593400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:144593200-144593400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr1:144593200-144593400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:144593200-144593400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr1:144593200-144593400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:144593200-144593400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:144593200-144593400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:144593200-144593400	Flanking Active TSS	Thymus	Thymus
17	chr1:144593200-144593400	Flanking Active TSS	Dnd41	blood
18	chr1:144593200-144593400	Flanking Active TSS	HMEC	breast
19	chr1:144593200-144593400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr1:144593200-144593400	Flanking Active TSS	NH-A	brain
21	chr1:144593200-144593600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:144593200-144593600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:144593200-144593600	Enhancers	Placenta	Placenta
24	chr1:144593200-144593800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr1:144593200-144593800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:144593200-144593800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:144593200-144594000	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr1:144593200-144594000	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr1:144593200-144594000	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr1:144593200-144594000	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr1:144593200-144594000	Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr1:144593200-144594000	Active TSS	Primary B cells from cord blood	blood
33	chr1:144593200-144594000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:144593200-144594000	Active TSS	Adipose Nuclei	Adipose
35	chr1:144593200-144594000	Active TSS	Duodenum Mucosa	Duodenum
36	chr1:144593200-144594000	Active TSS	Fetal Thymus	thymus
37	chr1:144593200-144594000	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr1:144593200-144594200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:144593200-144594200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:144593200-144594200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:144593200-144594200	Active TSS	Primary monocytes fromperipheralblood	blood
42	chr1:144593200-144594200	Active TSS	Primary B cells from peripheral blood	blood
43	chr1:144593200-144594200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr1:144593200-144594200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:144593200-144594200	Active TSS	Fetal Muscle Leg	muscle
46	chr1:144593200-144594200	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr1:144593200-144594200	Active TSS	K562	blood
48	chr1:144593200-144594400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr1:144593200-144594400	Enhancers	Fetal Brain Male	brain
50	chr1:144593200-144594600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links