Variant report

Variant	nsv831338
Chromosome Location	chr8:62736394-62913048
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:738)
CpG islands
(count:610)
Chromatin interactive
region (count:61)
LncRNA
region (count:75)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:738 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:62788055-62788394	K562	blood:	n/a	n/a
2	ARID3A	chr8:62826142-62826284	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:62791305-62791686	K562	blood:	n/a	n/a
4	ARID3A	chr8:62841642-62841850	K562	blood:	n/a	n/a
5	ATF1	chr8:62841592-62841841	K562	blood:	n/a	n/a
6	ATF1	chr8:62791337-62791631	K562	blood:	n/a	n/a
7	ATF1	chr8:62852251-62852270	K562	blood:	n/a	n/a
8	ATF1	chr8:62788093-62788310	K562	blood:	n/a	n/a
9	ATF1	chr8:62765929-62766142	K562	blood:	n/a	n/a
10	ATF2	chr8:62752135-62752763	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr8:62752167-62752771	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF3	chr8:62826043-62826345	K562	blood:	n/a	n/a
13	ATF3	chr8:62788063-62788310	K562	blood:	n/a	n/a
14	BACH1	chr8:62789298-62789678	H1-hESC	embryonic stem cell:	n/a	chr8:62789501-62789515
15	BACH1	chr8:62894437-62894454	K562	blood:	n/a	n/a
16	BACH1	chr8:62789954-62790048	K562	blood:	n/a	n/a
17	BACH1	chr8:62789279-62789707	K562	blood:	n/a	chr8:62789501-62789515
18	BACH1	chr8:62841640-62841780	H1-hESC	embryonic stem cell:	n/a	n/a
19	BCL11A	chr8:62752118-62752433	H1-hESC	embryonic stem cell:	n/a	n/a
20	BHLHE40	chr8:62752528-62752663	GM12878	blood:	n/a	n/a
21	BHLHE40	chr8:62788059-62788207	K562	blood:	n/a	n/a
22	BHLHE40	chr8:62844461-62844494	K562	blood:	n/a	n/a
23	BRCA1	chr8:62826026-62826395	Hela-S3	cervix:	n/a	n/a
24	CBX3	chr8:62787935-62788457	HCT-116	colon:	n/a	n/a
25	CCNT2	chr8:62801939-62802180	K562	blood:	n/a	n/a
26	CEBPB	chr8:62826081-62826354	H1-hESC	embryonic stem cell:	n/a	chr8:62826210-62826221 chr8:62826141-62826153 chr8:62826253-62826264
27	CEBPB	chr8:62898860-62899064	IMR90	lung:	n/a	chr8:62898953-62898964
28	CEBPB	chr8:62826040-62826449	HepG2	liver:	n/a	chr8:62826210-62826221 chr8:62826141-62826153 chr8:62826253-62826264
29	CEBPB	chr8:62791277-62791517	K562	blood:	n/a	n/a
30	CEBPB	chr8:62826118-62826406	HepG2	liver:	n/a	chr8:62826210-62826221 chr8:62826141-62826153 chr8:62826253-62826264
31	CEBPB	chr8:62753682-62753979	K562	blood:	n/a	chr8:62753877-62753888
32	CEBPB	chr8:62763376-62763641	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr8:62830978-62831066	A549	lung:	n/a	n/a
34	CEBPB	chr8:62794193-62794409	HepG2	liver:	n/a	n/a
35	CEBPB	chr8:62841665-62841729	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr8:62825950-62826476	Hela-S3	cervix:	n/a	chr8:62826210-62826221 chr8:62826141-62826153 chr8:62826253-62826264
37	CEBPB	chr8:62789337-62789694	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr8:62794196-62794428	K562	blood:	n/a	n/a
39	CEBPB	chr8:62898864-62899050	K562	blood:	n/a	chr8:62898953-62898964
40	CEBPB	chr8:62740316-62740604	IMR90	lung:	n/a	chr8:62740478-62740487 chr8:62740478-62740489 chr8:62740476-62740487 chr8:62740476-62740489 chr8:62740476-62740489
41	CEBPB	chr8:62771255-62771502	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr8:62826103-62826449	A549	lung:	n/a	chr8:62826210-62826221 chr8:62826141-62826153 chr8:62826253-62826264
43	CEBPB	chr8:62826117-62826311	HepG2	liver:	n/a	chr8:62826210-62826221 chr8:62826141-62826153 chr8:62826253-62826264
44	CEBPB	chr8:62753758-62753990	Hela-S3	cervix:	n/a	chr8:62753877-62753888
45	CEBPB	chr8:62801060-62801173	HepG2	liver:	n/a	chr8:62801132-62801143 chr8:62801134-62801143
46	CEBPB	chr8:62753744-62754035	IMR90	lung:	n/a	chr8:62753877-62753888
47	CEBPB	chr8:62903389-62903589	A549	lung:	n/a	chr8:62903512-62903523
48	CEBPB	chr8:62745207-62745438	A549	lung:	n/a	n/a
49	CEBPB	chr8:62809069-62809099	HepG2	liver:	n/a	chr8:62809082-62809093
50	CEBPB	chr8:62826058-62826434	K562	blood:	n/a	chr8:62826210-62826221 chr8:62826141-62826153 chr8:62826253-62826264

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:62745100-62745150	GM12892	blood:	n/a
2	chr8:62745100-62745150	GM19239	blood:	n/a
3	chr8:62823833-62823883	GM12878	blood:	n/a
4	chr8:62745097-62745147	LNCaP	prostate:	n/a
5	chr8:62825339-62825389	HIPEpiC	eye:	n/a
6	chr8:62823894-62823944	LNCaP	prostate:	n/a
7	chr8:62825339-62825389	HPAEpiC	pulmonary alveolar:	n/a
8	chr8:62745100-62745150	Hela-S3	cervix:	n/a
9	chr8:62745100-62745150	HUVEC	blood vessel:	n/a
10	chr8:62815650-62815700	SAEC	small airway:	n/a
11	chr8:62823815-62823865	MCF10A-Er-Src	breast:	n/a
12	chr8:62825339-62825389	HMEC	breast:	n/a
13	chr8:62825339-62825389	NB4	blood:	n/a
14	chr8:62815650-62815700	K562	blood:	n/a
15	chr8:62823815-62823865	HIPEpiC	eye:	n/a
16	chr8:62745153-62745203	GM12891	blood:	n/a
17	chr8:62823815-62823865	K562	blood:	n/a
18	chr8:62815650-62815700	HMEC	breast:	n/a
19	chr8:62815595-62815645	SK-N-MC	brain:	n/a
20	chr8:62823894-62823944	HCPEpiC	choroid plexus:	n/a
21	chr8:62825339-62825389	BE2_C	brain:	n/a
22	chr8:62823833-62823883	HepG2	liver:	n/a
23	chr8:62825339-62825389	GM19239	blood:	n/a
24	chr8:62823833-62823883	SK-N-SH_RA	brain:	n/a
25	chr8:62815595-62815645	HUVEC	blood vessel:	n/a
26	chr8:62745097-62745147	AoSMC	blood vessel:	n/a
27	chr8:62823833-62823883	HEK293	kidney:	embryo
28	chr8:62745153-62745203	HEEpiC	esophagus:	n/a
29	chr8:62823815-62823865	ECC-1	luminal epithelium:	n/a
30	chr8:62815650-62815700	HNPCEpiC	eye:	n/a
31	chr8:62745100-62745150	NB4	blood:	n/a
32	chr8:62815650-62815700	MCF-7	breast:	n/a
33	chr8:62823894-62823944	RPTEC	kidney:	n/a
34	chr8:62823815-62823865	NHDF-neo	bronchial:	n/a
35	chr8:62745097-62745147	AG10803	skin:	n/a
36	chr8:62815595-62815645	HEK293	kidney:	embryo
37	chr8:62823894-62823944	Hepatocyte	liver:	n/a
38	chr8:62870065-62870115	Jurkat	blood:	n/a
39	chr8:62745100-62745150	PrEC	prostate:	n/a
40	chr8:62745097-62745147	GM12892	blood:	n/a
41	chr8:62823815-62823865	RPTEC	kidney:	n/a
42	chr8:62815650-62815700	HCT-116	colon:	n/a
43	chr8:62745097-62745147	IMR90	lung:	fetal
44	chr8:62815595-62815645	Hela-S3	cervix:	n/a
45	chr8:62745097-62745147	HPAEpiC	pulmonary alveolar:	n/a
46	chr8:62745100-62745150	IMR90	lung:	fetal
47	chr8:62823833-62823883	NHDF-neo	bronchial:	n/a
48	chr8:62823815-62823865	PANC-1	pancreas:	n/a
49	chr8:62745100-62745150	SK-N-SH_RA	brain:	n/a
50	chr8:62815650-62815700	GM12891	blood:	n/a

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:62840941..62842961-chr8:62845678..62848368,2	K562	blood:
2	chr8:62765756..62767882-chr8:62776508..62778450,2	K562	blood:
3	chr8:62860250..62862698-chr8:62867692..62870141,2	K562	blood:
4	chr8:62620565..62623407-chr8:62786770..62788455,2	K562	blood:
5	chr8:62741831..62743979-chr8:62747018..62749495,2	K562	blood:
6	chr8:62851196..62853286-chr8:62860071..62862095,2	MCF-7	breast:
7	chr8:62781573..62783288-chr8:62786712..62789501,2	K562	blood:
8	chr8:62826515..62828032-chr8:62828299..62830698,2	MCF-7	breast:
9	chr8:62851592..62853559-chr8:62856440..62858366,2	K562	blood:
10	chr8:62680044..62682717-chr8:62786976..62789790,2	K562	blood:
11	chr8:62850703..62853092-chr8:62855919..62858366,2	K562	blood:
12	chr8:62860250..62862698-chr8:62867692..62870141,2	K562	blood:
13	chr8:62715569..62718009-chr8:62781744..62783321,2	K562	blood:
14	chr8:62642768..62644647-chr8:62786101..62787960,2	K562	blood:
15	chr8:62599050..62601390-chr8:62788513..62790714,2	K562	blood:
16	chr8:62804137..62806853-chr8:62809046..62810581,2	K562	blood:
17	chr8:62847070..62849186-chr8:62851343..62853952,2	K562	blood:
18	chr8:62764591..62766884-chr8:62781843..62783885,2	K562	blood:
19	chr8:62770464..62772123-chr8:62826774..62828899,2	K562	blood:
20	chr8:62776624..62779311-chr8:62784115..62786084,2	K562	blood:
21	chr8:62776624..62779311-chr8:62784115..62786084,2	K562	blood:
22	chr8:62851196..62853286-chr8:62860071..62862095,2	MCF-7	breast:
23	chr8:62884871..62886740-chr8:62945521..62948449,2	K562	blood:
24	chr8:62790960..62793781-chr8:62797496..62800114,3	K562	blood:
25	chr8:62823240..62824957-chr8:62833824..62836674,2	K562	blood:
26	chr8:62861198..62864190-chr8:62867423..62870141,2	K562	blood:
27	chr8:62626675..62629374-chr8:62738339..62740610,3	K562	blood:
28	chr8:62775963..62778241-chr8:62780907..62783837,2	K562	blood:
29	chr8:62804137..62806853-chr8:62809046..62810581,2	K562	blood:
30	chr8:62800065..62803153-chr8:62804374..62807393,4	K562	blood:
31	chr8:62770464..62772123-chr8:62826774..62828899,2	K562	blood:
32	chr8:62840941..62842961-chr8:62845678..62848368,2	K562	blood:
33	chr8:62765756..62767882-chr8:62776508..62778450,2	K562	blood:
34	chr8:62780628..62782972-chr8:62782976..62785697,2	K562	blood:
35	chr8:62785720..62787841-chr8:62789535..62792167,2	K562	blood:
36	chr8:62806937..62809503-chr8:62843192..62845966,2	K562	blood:
37	chr8:62826515..62828032-chr8:62828299..62830698,2	MCF-7	breast:
38	chr8:62806937..62809503-chr8:62843192..62845966,2	K562	blood:
39	chr8:62780628..62782972-chr8:62782976..62785697,2	K562	blood:
40	chr8:62847070..62849186-chr8:62851343..62853952,2	K562	blood:
41	chr8:62799541..62801529-chr8:62809372..62812166,2	MCF-7	breast:
42	chr8:62850703..62853092-chr8:62855919..62858366,2	K562	blood:
43	chr8:62815283..62816844-chr8:62823393..62825914,2	K562	blood:
44	chr8:62781573..62783288-chr8:62786712..62789501,2	K562	blood:
45	chr8:62678761..62681544-chr8:62788290..62791264,2	K562	blood:
46	chr8:62861198..62864190-chr8:62867423..62870141,2	K562	blood:
47	chr8:62791156..62793257-chr8:62795639..62797220,2	K562	blood:
48	chr8:62851592..62853559-chr8:62856440..62858366,2	K562	blood:
49	chr8:62775963..62778241-chr8:62780907..62783837,2	K562	blood:
50	chr8:62817790..62821820-chr8:62830855..62832666,3	K562	blood:

(count:75 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLVS1-3	chr8:62835249-62835382	ENSG00000254119
2	lnc-CLVS1-3	chr8:62797844-62798118	NONHSAT126881
3	lnc-CLVS1-3	chr8:62747476-62747555	ENSG00000254119
4	lnc-CLVS1-3	chr8:62851896-62852093	ENSG00000254119
5	lnc-CLVS1-3	chr8:62792248-62792336	NONHSAT126881
6	lnc-ASPH-2	chr8:62737569-62737811	ENSG00000253834
7	lnc-NKAIN3-13	chr8:62899508-62899809	NONHSAT126903
8	lnc-CLVS1-3	chr8:62766942-62766993	ENSG00000254119
9	lnc-CLVS1-3	chr8:62765212-62765335	NONHSAT126881
10	lnc-CLVS1-3	chr8:62791441-62792336	ENSG00000254119
11	lnc-CLVS1-3	chr8:62765218-62765335	ENSG00000254119
12	lnc-CLVS1-3	chr8:62765212-62765335	ENSG00000254119
13	lnc-CLVS1-3	chr8:62737907-62738091	ENSG00000254119
14	lnc-CLVS1-3	chr8:62774329-62774618	XLOC_006817
15	lnc-ASPH-7	chr8:62841004-62841082	ucscGeneNc_uc003xut_2
16	lnc-CLVS1-3	chr8:62747432-62747555	ENSG00000254119
17	lnc-CLVS1-3	chr8:62807045-62807294	NONHSAT126881
18	lnc-CLVS1-3	chr8:62765218-62765335	ENSG00000254119
19	lnc-CLVS1-3	chr8:62747349-62747605	NONHSAT126881
20	lnc-CLVS1-3	chr8:62765218-62765335	ENSG00000254119
21	lnc-CLVS1-3	chr8:62738028-62738091	ENSG00000254119
22	lnc-CLVS1-3	chr8:62765218-62765335	XLOC_006817
23	lnc-ASPH-7	chr8:62834214-62836877	ucscGeneNc_uc003xut_2
24	lnc-CLVS1-3	chr8:62781916-62781921	XLOC_006817
25	lnc-CLVS1-3	chr8:62737627-62738091	XLOC_006817
26	lnc-CLVS1-3	chr8:62747432-62747555	XLOC_006817
27	lnc-CLVS1-3	chr8:62740494-62740536	XLOC_006817
28	lnc-CLVS1-3	chr8:62765218-62765335	ENSG00000254119
29	lnc-NKAIN3-5	chr8:62805893-62806033	ENSG00000254120
30	lnc-CLVS1-3	chr8:62856698-62856739	ENSG00000254119
31	lnc-CLVS1-3	chr8:62774329-62775193	XLOC_006817
32	lnc-CLVS1-3	chr8:62747432-62747555	XLOC_006817
33	lnc-NKAIN3-5	chr8:62806676-62806765	ENSG00000254120
34	lnc-NKAIN3-12	chr8:62902932-62903090	l_3612_chr8:62900432-62937354_testes
35	lnc-CLVS1-3	chr8:62747507-62747555	ENSG00000254119
36	lnc-CLVS1-3	chr8:62768223-62768411	NONHSAT126881
37	lnc-CLVS1-3	chr8:62765218-62765335	ENSG00000254119
38	lnc-CLVS1-3	chr8:62797845-62798118	ENSG00000254119
39	lnc-NKAIN3-12	chr8:62909986-62910109	l_3612_chr8:62900432-62937354_testes
40	lnc-CLVS1-3	chr8:62747515-62747555	ENSG00000254119
41	lnc-CLVS1-3	chr8:62768223-62768411	ENSG00000254119
42	lnc-CLVS1-3	chr8:62747432-62747555	XLOC_006817
43	lnc-CLVS1-3	chr8:62786615-62786738	ENSG00000254119
44	lnc-CLVS1-3	chr8:62774305-62775193	NONHSAT126881
45	lnc-CLVS1-3	chr8:62792248-62792336	ENSG00000254119
46	lnc-CLVS1-3	chr8:62797845-62798104	XLOC_006817
47	lnc-CLVS1-3	chr8:62765218-62765335	ENSG00000254119
48	lnc-NKAIN3-5	chr8:62802398-62802434	ENSG00000254120
49	lnc-CLVS1-3	chr8:62747432-62747555	ENSG00000254119
50	lnc-CLVS1-3	chr8:62740378-62740536	NONHSAT126881

No data

Variant related genes	Relation type
ENSG00000254120	TF binding region
ENSG00000253834	TF binding region
ENSG00000253544	TF binding region
ENSG00000254119	TF binding region
ENSG00000254120	CpG island
ENSG00000253834	CpG island
ENSG00000253544	CpG island
ENSG00000254119	CpG island
ENSG00000198363	chromatin interactions
ENSG00000254119	chromatin interactions
ENSG00000254120	chromatin interactions
ENSG00000253544	chromatin interactions
ENSG00000264408	chromatin interactions
BTG2	miRNA target sites
BTBD9	miRNA target sites

Extended variants
information (count: 3406 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:3406 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190827507	chr8:62736396-62736397	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs541270477	chr8:62736411-62736412	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs559945122	chr8:62736451-62736452	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs530129504	chr8:62736463-62736464	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs548311638	chr8:62736520-62736521	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs569693407	chr8:62736540-62736541	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs530835178	chr8:62736549-62736550	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10096602	chr8:62736550-62736551	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs571460453	chr8:62736565-62736566	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538777588	chr8:62736594-62736595	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10111518	chr8:62736599-62736600	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs184063837	chr8:62736651-62736652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536335815	chr8:62736663-62736664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554731113	chr8:62736666-62736667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373749908	chr8:62736677-62736678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139905404	chr8:62736707-62736708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543454874	chr8:62736724-62736725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149980250	chr8:62736753-62736754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577467124	chr8:62736816-62736817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188405770	chr8:62736817-62736818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559677295	chr8:62736839-62736840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181140789	chr8:62736844-62736845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114055897	chr8:62736846-62736847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs80205291	chr8:62736885-62736886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563457070	chr8:62736894-62736895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532189910	chr8:62736979-62736980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574797980	chr8:62736984-62736985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115645230	chr8:62737034-62737035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550596747	chr8:62737061-62737062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1845597	chr8:62737079-62737080	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs534213321	chr8:62737096-62737097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560695236	chr8:62737116-62737117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145289797	chr8:62737135-62737136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148744405	chr8:62737143-62737144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184432408	chr8:62737156-62737157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555082948	chr8:62737160-62737161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114141804	chr8:62737170-62737171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529721053	chr8:62737204-62737205	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190218234	chr8:62737211-62737212	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569772206	chr8:62737253-62737254	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537193655	chr8:62737254-62737255	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142304258	chr8:62737270-62737271	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576807485	chr8:62737308-62737309	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146490096	chr8:62737311-62737312	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546362839	chr8:62737322-62737323	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553651786	chr8:62737335-62737336	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140987872	chr8:62737343-62737344	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138781204	chr8:62737360-62737361	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71257391	chr8:62737361-62737362	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375097427	chr8:62737362-62737363	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Salivary gland tumor	18059337	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:339 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62734000-62737000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:62735200-62736800	Enhancers	H1 Cell Line	embryonic stem cell
3	chr8:62735200-62737000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr8:62735400-62736400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:62735400-62736800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr8:62735400-62736800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:62735400-62745000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:62735600-62736600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:62735600-62736800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:62735600-62740800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:62736000-62736400	Enhancers	Brain Anterior Caudate	brain
12	chr8:62736000-62736400	Enhancers	Brain Germinal Matrix	brain
13	chr8:62736000-62736400	Enhancers	Brain Substantia Nigra	brain
14	chr8:62736000-62737000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:62736200-62736800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr8:62736200-62736800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr8:62736200-62737000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr8:62736200-62738400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:62736400-62736600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr8:62736400-62736600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr8:62736600-62737000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr8:62736600-62737200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr8:62737000-62737400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:62737000-62737600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr8:62737200-62737600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr8:62737400-62737600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr8:62737600-62737800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr8:62737600-62739800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr8:62737800-62738400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
30	chr8:62737800-62739000	Weak transcription	Fetal Heart	heart
31	chr8:62738400-62740200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr8:62738800-62745000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:62739000-62739200	Enhancers	Fetal Heart	heart
34	chr8:62739200-62740400	Weak transcription	Fetal Heart	heart
35	chr8:62739400-62750000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr8:62739800-62740600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr8:62739800-62740600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:62740400-62740800	Enhancers	Fetal Heart	heart
39	chr8:62740600-62743600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr8:62740600-62743800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:62740800-62743600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:62742400-62743800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr8:62743600-62743800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:62743600-62744000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:62743600-62744200	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr8:62743600-62744400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:62743600-62744600	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr8:62743800-62744000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:62743800-62744200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:62743800-62744400	Enhancers	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links