Variant report

Variant	nsv534326
Chromosome Location	chr5:96531217-97283481
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2737)
CpG islands
(count:672)
Chromatin interactive
region (count:68)
LncRNA
region (count:25)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2737 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:96559836-96560263	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:96869893-96870174	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:96632846-96633044	HepG2	liver:	n/a	n/a
4	ATF1	chr5:96925354-96925372	K562	blood:	n/a	n/a
5	ATF1	chr5:96566806-96567076	K562	blood:	n/a	n/a
6	ATF2	chr5:96691322-96691778	GM12878	blood:	n/a	n/a
7	ATF2	chr5:96736083-96736724	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr5:97224125-97224557	GM12878	blood:	n/a	n/a
9	ATF2	chr5:97173902-97174280	GM12878	blood:	n/a	n/a
10	ATF2	chr5:97173832-97174381	GM12878	blood:	n/a	n/a
11	ATF2	chr5:96883636-96884569	GM12878	blood:	n/a	n/a
12	ATF2	chr5:96883703-96884520	GM12878	blood:	n/a	n/a
13	ATF2	chr5:96736132-96736743	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr5:97224163-97224479	GM12878	blood:	n/a	n/a
15	BACH1	chr5:96861461-96861877	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr5:96600161-96600267	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr5:96885956-96886136	H1-hESC	embryonic stem cell:	n/a	n/a
18	BATF	chr5:96884044-96884526	GM12878	blood:	n/a	chr5:96884341-96884350
19	BATF	chr5:97173882-97174325	GM12878	blood:	n/a	chr5:97174165-97174175 chr5:97174107-97174117
20	BATF	chr5:96713332-96713631	GM12878	blood:	n/a	n/a
21	BATF	chr5:96872429-96872695	GM12878	blood:	n/a	chr5:96872552-96872563
22	BATF	chr5:96883695-96884539	GM12878	blood:	n/a	chr5:96884341-96884350
23	BATF	chr5:96872418-96872668	GM12878	blood:	n/a	chr5:96872552-96872563
24	BATF	chr5:97224123-97224497	GM12878	blood:	n/a	n/a
25	BATF	chr5:97173837-97174246	GM12878	blood:	n/a	chr5:97174165-97174175 chr5:97174107-97174117
26	BATF	chr5:96883741-96884022	GM12878	blood:	n/a	n/a
27	BATF	chr5:97224132-97224459	GM12878	blood:	n/a	n/a
28	BCL11A	chr5:97173923-97174242	GM12878	blood:	n/a	chr5:97174110-97174119 chr5:97174109-97174118 chr5:97174164-97174173
29	BCL11A	chr5:96713335-96713673	GM12878	blood:	n/a	n/a
30	BCL11A	chr5:96883801-96884003	GM12878	blood:	n/a	chr5:96883828-96883837
31	BCL11A	chr5:96736252-96736517	H1-hESC	embryonic stem cell:	n/a	n/a
32	BCL11A	chr5:96736211-96736597	H1-hESC	embryonic stem cell:	n/a	n/a
33	BCL11A	chr5:97224159-97224505	GM12878	blood:	n/a	chr5:97224311-97224320
34	BCL11A	chr5:97173980-97174260	GM12878	blood:	n/a	chr5:97174110-97174119 chr5:97174109-97174118 chr5:97174164-97174173
35	BCL11A	chr5:97224140-97224399	GM12878	blood:	n/a	chr5:97224311-97224320
36	BCL11A	chr5:97259838-97260091	GM12878	blood:	n/a	n/a
37	BCL11A	chr5:96884033-96884506	GM12878	blood:	n/a	n/a
38	BCL11A	chr5:96884015-96884504	GM12878	blood:	n/a	n/a
39	BCL3	chr5:96831847-96832152	GM12878	blood:	n/a	n/a
40	BCL3	chr5:96928285-96928637	GM12878	blood:	n/a	n/a
41	BCL3	chr5:97224086-97224486	GM12878	blood:	n/a	chr5:97224311-97224320
42	BCLAF1	chr5:96691310-96691873	GM12878	blood:	n/a	n/a
43	BCLAF1	chr5:96632712-96633177	GM12878	blood:	n/a	n/a
44	BHLHE40	chr5:96869825-96870150	GM12878	blood:	n/a	n/a
45	BHLHE40	chr5:97224143-97224411	GM12878	blood:	n/a	n/a
46	BHLHE40	chr5:96691380-96691821	GM12878	blood:	n/a	n/a
47	BHLHE40	chr5:96830650-96830767	GM12878	blood:	n/a	n/a
48	BHLHE40	chr5:96883684-96884500	GM12878	blood:	n/a	n/a
49	BHLHE40	chr5:97173921-97174267	GM12878	blood:	n/a	n/a
50	BRCA1	chr5:96761275-96761538	H1-hESC	embryonic stem cell:	n/a	n/a

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:96890257-96890307	HMEC	breast:	n/a
2	chr5:96890257-96890307	HMEC	breast:	n/a
3	chr5:96876834-96876884	HEK293	kidney:	embryo
4	chr5:96915770-96915820	GM19239	blood:	n/a
5	chr5:97191292-97191342	GM12891	blood:	n/a
6	chr5:96742935-96742985	AG10803	skin:	n/a
7	chr5:96915770-96915820	HepG2	liver:	n/a
8	chr5:97191292-97191342	AG10803	skin:	n/a
9	chr5:96915770-96915820	H1-hESC	embryonic stem cell:	embryo
10	chr5:96789385-96789435	AG10803	skin:	n/a
11	chr5:96876834-96876884	HCPEpiC	choroid plexus:	n/a
12	chr5:96881859-96881909	SKMC	muscle:	n/a
13	chr5:96845117-96845167	SKMC	muscle:	n/a
14	chr5:96845117-96845167	HMEC	breast:	n/a
15	chr5:97191292-97191342	MCF10A-Er-Src	breast:	n/a
16	chr5:96742935-96742985	T-47D	breast:	n/a
17	chr5:96743054-96743104	IMR90	lung:	fetal
18	chr5:96742935-96742985	GM12891	blood:	n/a
19	chr5:97191292-97191342	IMR90	lung:	fetal
20	chr5:96855476-96855526	PFSK-1	brain:	n/a
21	chr5:96876834-96876884	Jurkat	blood:	n/a
22	chr5:96743054-96743104	AoSMC	blood vessel:	n/a
23	chr5:96742935-96742985	HCM	heart:	n/a
24	chr5:96890257-96890307	NB4	blood:	n/a
25	chr5:96876834-96876884	Hepatocyte	liver:	n/a
26	chr5:96789385-96789435	HMEC	breast:	n/a
27	chr5:97191292-97191342	HPAEpiC	pulmonary alveolar:	n/a
28	chr5:96789385-96789435	SAEC	small airway:	n/a
29	chr5:96743054-96743104	MCF-7	breast:	n/a
30	chr5:96789385-96789435	HUVEC	blood vessel:	n/a
31	chr5:96855476-96855526	Jurkat	blood:	n/a
32	chr5:96845117-96845167	PFSK-1	brain:	n/a
33	chr5:96845117-96845167	GM12892	blood:	n/a
34	chr5:96855476-96855526	AG10803	skin:	n/a
35	chr5:96855476-96855526	Hepatocyte	liver:	n/a
36	chr5:96747223-96747273	HCT-116	colon:	n/a
37	chr5:96876834-96876884	ProgFib	skin:	n/a
38	chr5:96789385-96789435	HPAEpiC	pulmonary alveolar:	n/a
39	chr5:96742935-96742985	NH-A	brain:	n/a
40	chr5:96789385-96789435	HEK293	kidney:	embryo
41	chr5:96876834-96876884	HRPEpiC	eye:	n/a
42	chr5:96743054-96743104	Hepatocyte	liver:	n/a
43	chr5:96881859-96881909	U87	brain:	n/a
44	chr5:96743054-96743104	NH-A	brain:	n/a
45	chr5:96876834-96876884	HPAEpiC	pulmonary alveolar:	n/a
46	chr5:96915770-96915820	NB4	blood:	n/a
47	chr5:96855476-96855526	ECC-1	luminal epithelium:	n/a
48	chr5:96742935-96742985	Caco-2	colon:	n/a
49	chr5:96876834-96876884	AG09319	gingival:	n/a
50	chr5:96789385-96789435	GM12878	blood:	n/a

(count:68 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:96865281..96867677-chr5:96867921..96869530,2	K562	blood:
2	chr5:96632616..96633407-chr5:96869853..96870506,3	MCF-7	breast:
3	chr5:96720114..96721922-chr5:96728191..96729748,2	MCF-7	breast:
4	chr5:96533022..96535910-chr5:96537589..96540065,2	K562	blood:
5	chr5:96695823..96698804-chr6:142366314..142367822,2	K562	blood:
6	chr5:96869180..96869850-chr5:98103055..98104021,2	MCF-7	breast:
7	chr17:41398605..41400432-chr5:96695803..96698802,4	MCF-7	breast:
8	chr5:96566460..96567205-chr5:96869494..96870442,2	MCF-7	breast:
9	chr5:96518180..96520707-chr5:96752048..96753718,2	K562	blood:
10	chr5:96529786..96532537-chr5:96535359..96538183,3	K562	blood:
11	chr17:41380182..41383606-chr5:96695801..96698822,3	K562	blood:
12	chr5:97027188..97030158-chr5:97031253..97033564,2	K562	blood:
13	chr5:96735260..96736761-chr7:31786509..31788468,2	MCF-7	breast:
14	chr5:96656999..96658653-chr5:96658674..96662108,3	K562	blood:
15	chr17:41398650..41400853-chr5:96695801..96698804,5	K562	blood:
16	chr5:96534501..96536985-chr5:96538534..96540888,2	MCF-7	breast:
17	chr5:96566532..96567370-chr5:96632847..96633430,3	MCF-7	breast:
18	chr5:96687334..96689961-chr5:96691050..96693898,2	MCF-7	breast:
19	chr5:97162501..97165001-chr5:97167662..97169407,2	MCF-7	breast:
20	chr5:96902855..96905560-chr5:96907320..96909656,2	K562	blood:
21	chr5:96902855..96905560-chr5:96907320..96909656,2	K562	blood:
22	chr5:97207148..97208975-chr5:97213192..97214894,2	K562	blood:
23	chr5:97203818..97206757-chr5:97208812..97211809,2	K562	blood:
24	chr5:97063042..97065906-chr5:97067363..97069421,2	MCF-7	breast:
25	chr5:96521334..96524159-chr5:96530024..96533344,3	K562	blood:
26	chr5:96987103..96987619-chr5:97253568..97254119,2	MCF-7	breast:
27	chr5:97113626..97116438-chr5:97121561..97123647,2	K562	blood:
28	chr5:96517922..96519748-chr5:96562831..96564407,2	MCF-7	breast:
29	chr5:96656999..96658653-chr5:96658674..96662108,3	K562	blood:
30	chr17:41398860..41401971-chr5:96695801..96698802,6	K562	blood:
31	chr5:97160876..97163358-chr5:97164775..97167035,2	K562	blood:
32	chr3:73159507..73161444-chr5:96697302..96698824,2	K562	blood:
33	chr5:96757244..96760010-chr5:96764877..96766486,2	MCF-7	breast:
34	chr17:41464548..41466257-chr5:96697324..96698824,2	MCF-7	breast:
35	chr5:97063042..97065906-chr5:97067363..97069421,2	MCF-7	breast:
36	chr5:97207148..97208975-chr5:97213192..97214894,2	K562	blood:
37	chr5:97027188..97030158-chr5:97031253..97033564,2	K562	blood:
38	chr5:96549287..96551402-chr5:96556377..96559080,2	K562	blood:
39	chr5:96711348..96714233-chr5:96714673..96716999,2	MCF-7	breast:
40	chr5:96533022..96535910-chr5:96537589..96540065,2	K562	blood:
41	chr5:96865281..96867677-chr5:96867921..96869530,2	K562	blood:
42	chr5:96566460..96567205-chr5:96869494..96870442,2	MCF-7	breast:
43	chr5:96632479..96633406-chr5:96869339..96870359,6	MCF-7	breast:
44	chr5:96706066..96707837-chr5:96722435..96724433,2	K562	blood:
45	chr5:96517585..96519769-chr5:96537536..96540052,2	MCF-7	breast:
46	chr5:96711348..96714233-chr5:96714673..96716999,2	MCF-7	breast:
47	chr5:96706066..96707837-chr5:96722435..96724433,2	K562	blood:
48	chr5:97160876..97163358-chr5:97164775..97167035,2	K562	blood:
49	chr17:41380182..41383629-chr5:96695802..96698822,5	K562	blood:
50	chr5:96720114..96721922-chr5:96728191..96729748,2	MCF-7	breast:

(count:25 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2215E18.1.1-5	chr5:96704480-96706125	NONHSAT102928
2	lnc-CTD-2215E18.1.1-2	chr5:97004255-97004366	NR_105028
3	lnc-CTD-2215E18.1.1-2	chr5:97006297-97006750	NONHSAT102931
4	lnc-RIOK2-2	chr5:96559075-96559398	XLOC_004934
5	lnc-RIOK2-1	chr5:96537546-96537584	ENSG00000248758.1
6	lnc-CTD-2215E18.1.1-2	chr5:96856933-96856994	NR_105028
7	lnc-RIOK2-4	chr5:96786031-96786319	NONHSAT102930
8	lnc-CTD-2215E18.1.1-3	chr5:97217132-97217271	XLOC_004484
9	lnc-RIOK2-2	chr5:96563572-96563661	XLOC_004934
10	lnc-RIOK2-3	chr5:96785062-96785445	NONHSAT102929
11	lnc-CTD-2215E18.1.1-2	chr5:97006298-97006755	NR_105028
12	lnc-CTD-2215E18.1.1-3	chr5:97217124-97217271	XLOC_004484
13	lnc-CTD-2215E18.1.1-2	chr5:97004254-97004366	NONHSAT102931
14	lnc-CTD-2215E18.1.1-3	chr5:97257835-97258399	XLOC_004484
15	lnc-CTD-2215E18.1.1-6	chr5:97073598-97074617	NONHSAT102935
16	lnc-CTD-2215E18.1.1-1	chr5:96767448-96767604	ENSG00000251513.1
17	lnc-CTD-2215E18.1.1-1	chr5:96772257-96772921	ENSG00000251513.1
18	lnc-CTD-2215E18.1.1-2	chr5:96856933-96856994	XLOC_004483
19	lnc-CTD-2215E18.1.1-2	chr5:97004255-97004366	XLOC_004483
20	lnc-CTD-2215E18.1.1-2	chr5:97006298-97006750	XLOC_004483
21	lnc-CTD-2215E18.1.1-2	chr5:96840400-96840496	NR_105028
22	lnc-CTD-2215E18.1.1-2	chr5:96840399-96840496	NONHSAT102931
23	lnc-CTD-2215E18.1.1-2	chr5:96840400-96840496	XLOC_004483
24	lnc-CTD-2215E18.1.1-2	chr5:96856932-96856994	NONHSAT102931
25	lnc-CTD-2215E18.1.1-3	chr5:97235342-97235457	XLOC_004484

No data

Variant related genes	Relation type
ENSG00000251054	TF binding region
ENSG00000248202	TF binding region
ENSG00000249977	TF binding region
ENSG00000249761	TF binding region
ENSG00000248931	TF binding region
ENSG00000250331	TF binding region
ENSG00000251193	TF binding region
YTHDF1P1	TF binding region
ENSG00000248758	TF binding region
ENSG00000251054	CpG island
ENSG00000248202	CpG island
ENSG00000249977	CpG island
ENSG00000249761	CpG island
ENSG00000248931	CpG island
ENSG00000250331	CpG island
ENSG00000251193	CpG island
YTHDF1P1	CpG island
ENSG00000248758	CpG island
ENSG00000223247	chromatin interactions
ENSG00000248758	chromatin interactions
ENSG00000251513	chromatin interactions
ENSG00000236383	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000058729	chromatin interactions
DNAJB12	miRNA target sites

Extended variants
information (count: 14495 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:14495 , 50 per page) page: 1 2 3 4 5 6 7 ... 290

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572434300	chr5:96531217-96531218	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs546200847	chr5:96531220-96531221	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs113074370	chr5:96531365-96531366	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs564497198	chr5:96531368-96531369	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs566707523	chr5:96531412-96531413	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs189925572	chr5:96531425-96531426	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs558658725	chr5:96531427-96531428	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs182088286	chr5:96531431-96531432	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs550218762	chr5:96531434-96531435	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs147075389	chr5:96531452-96531453	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs529486594	chr5:96531577-96531578	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs575414978	chr5:96531580-96531581	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs548235148	chr5:96531581-96531582	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs186412673	chr5:96531601-96531602	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs4869152	chr5:96531607-96531608	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs551753521	chr5:96531623-96531624	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs570153734	chr5:96531624-96531625	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs190873770	chr5:96531681-96531682	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs9918187	chr5:96531684-96531685	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs138744631	chr5:96531688-96531689	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs374356717	chr5:96531690-96531691	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs536248562	chr5:96531693-96531694	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs535303811	chr5:96531702-96531703	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs553965326	chr5:96531742-96531743	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs537381516	chr5:96531849-96531850	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs183386940	chr5:96531872-96531873	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs546364058	chr5:96531877-96531878	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs185205679	chr5:96531881-96531882	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs542982082	chr5:96531886-96531887	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs191099516	chr5:96531930-96531931	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs60642325	chr5:96531956-96531957	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs563942071	chr5:96531975-96531976	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs367574444	chr5:96532006-96532007	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs529628331	chr5:96532051-96532052	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs73779839	chr5:96532052-96532053	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs78535735	chr5:96532059-96532060	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs142732205	chr5:96532064-96532065	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs60420848	chr5:96532077-96532078	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs570065572	chr5:96532087-96532088	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs558547569	chr5:96532115-96532116	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs545197495	chr5:96532126-96532127	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs182929077	chr5:96532153-96532154	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs112425365	chr5:96532154-96532155	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs35999971	chr5:96532182-96532183	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs188388342	chr5:96532232-96532233	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs192891951	chr5:96532296-96532297	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs535766958	chr5:96532371-96532372	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs114336020	chr5:96532433-96532434	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs565894194	chr5:96532462-96532463	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs540862179	chr5:96532493-96532494	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	19036926	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bipolar disorder	19214233	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:1334 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96520000-96531600	Weak transcription	HSMM	muscle
2	chr5:96520000-96534800	Weak transcription	Left Ventricle	heart
3	chr5:96528200-96531800	Flanking Active TSS	Dnd41	blood
4	chr5:96529400-96531400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:96529400-96533000	Weak transcription	Adipose Nuclei	Adipose
6	chr5:96530400-96537000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:96530400-96537400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:96530600-96533000	Weak transcription	Primary B cells from cord blood	blood
9	chr5:96530600-96533800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr5:96530600-96535200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr5:96530600-96536600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr5:96530800-96531400	Weak transcription	GM12878-XiMat	blood
13	chr5:96531000-96531400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr5:96531000-96534600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:96531400-96531600	Enhancers	GM12878-XiMat	blood
16	chr5:96531800-96532200	Enhancers	Dnd41	blood
17	chr5:96532200-96532800	Weak transcription	Dnd41	blood
18	chr5:96532800-96533600	Strong transcription	Dnd41	blood
19	chr5:96533000-96534800	Strong transcription	Primary B cells from cord blood	blood
20	chr5:96533600-96534800	Genic enhancers	Dnd41	blood
21	chr5:96534800-96542400	Weak transcription	Primary B cells from cord blood	blood
22	chr5:96534800-96543400	Weak transcription	Dnd41	blood
23	chr5:96535200-96537000	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr5:96536600-96537800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr5:96537000-96537800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr5:96537200-96537400	Enhancers	Aorta	Aorta
27	chr5:96537400-96537800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:96537800-96538200	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr5:96543400-96544000	Enhancers	Dnd41	blood
30	chr5:96544000-96544400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:96544000-96545000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:96544000-96545000	Flanking Active TSS	Dnd41	blood
33	chr5:96545000-96545600	Enhancers	Dnd41	blood
34	chr5:96549800-96550200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:96554400-96565400	Weak transcription	Primary B cells from peripheral blood	blood
36	chr5:96556600-96559400	Weak transcription	NHDF-Ad	bronchial
37	chr5:96558800-96560000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:96559200-96560000	Enhancers	HSMMtube	muscle
39	chr5:96559200-96560200	Enhancers	HSMM	muscle
40	chr5:96559200-96560400	Enhancers	Fetal Intestine Large	intestine
41	chr5:96559400-96560000	Enhancers	NHDF-Ad	bronchial
42	chr5:96559400-96560200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr5:96559400-96560400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:96559400-96560400	Enhancers	Liver	Liver
45	chr5:96559600-96560000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:96559600-96560200	Enhancers	NH-A	brain
47	chr5:96559600-96560200	Enhancers	Osteobl	bone
48	chr5:96559600-96560600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:96560000-96560400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:96560000-96560400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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