Variant report

Variant	nsv885788
Chromosome Location	chr6:34464010-34551912
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2164)
CpG islands
(count:2690)
Chromatin interactive
region (count:200)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2164 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:34485472-34485719	K562	blood:	n/a	n/a
2	ARID3A	chr6:34494652-34494762	K562	blood:	n/a	n/a
3	ARID3A	chr6:34528420-34528567	HepG2	liver:	n/a	n/a
4	ARID3A	chr6:34530717-34531006	K562	blood:	n/a	n/a
5	ARID3A	chr6:34494959-34495288	HepG2	liver:	n/a	n/a
6	ARID3A	chr6:34528321-34529035	K562	blood:	n/a	n/a
7	ARID3A	chr6:34495041-34495171	K562	blood:	n/a	n/a
8	ARID3A	chr6:34537168-34537342	K562	blood:	n/a	n/a
9	ARID3A	chr6:34535143-34535361	HepG2	liver:	n/a	n/a
10	ATF1	chr6:34530640-34531020	K562	blood:	n/a	n/a
11	ATF1	chr6:34498693-34498808	K562	blood:	n/a	n/a
12	ATF1	chr6:34528256-34528770	K562	blood:	n/a	n/a
13	ATF2	chr6:34494984-34495307	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF3	chr6:34485205-34485489	K562	blood:	n/a	n/a
15	BACH1	chr6:34525098-34525122	K562	blood:	n/a	n/a
16	BACH1	chr6:34528081-34528565	K562	blood:	n/a	n/a
17	BACH1	chr6:34494673-34494811	K562	blood:	n/a	n/a
18	BCL3	chr6:34522720-34523036	GM12878	blood:	n/a	n/a
19	BCL3	chr6:34463889-34464156	GM12878	blood:	n/a	n/a
20	BCL3	chr6:34541372-34541610	GM12878	blood:	n/a	n/a
21	BCL3	chr6:34543140-34543668	K562	blood:	n/a	chr6:34543350-34543359
22	BCL3	chr6:34522693-34523062	GM12878	blood:	n/a	n/a
23	BCLAF1	chr6:34494974-34495328	GM12878	blood:	n/a	n/a
24	BHLHE40	chr6:34535821-34536274	HepG2	liver:	n/a	n/a
25	BHLHE40	chr6:34495040-34495240	GM12878	blood:	n/a	n/a
26	BHLHE40	chr6:34527683-34529135	K562	blood:	n/a	n/a
27	BHLHE40	chr6:34525097-34525230	K562	blood:	n/a	n/a
28	BHLHE40	chr6:34530292-34531071	K562	blood:	n/a	n/a
29	BHLHE40	chr6:34526077-34526348	K562	blood:	n/a	n/a
30	BHLHE40	chr6:34498559-34498914	K562	blood:	n/a	n/a
31	BHLHE40	chr6:34494998-34495331	K562	blood:	n/a	n/a
32	BHLHE40	chr6:34531305-34531454	K562	blood:	n/a	n/a
33	BHLHE40	chr6:34481627-34482576	K562	blood:	n/a	n/a
34	BHLHE40	chr6:34512632-34512964	K562	blood:	n/a	n/a
35	BHLHE40	chr6:34528358-34529016	HepG2	liver:	n/a	n/a
36	BHLHE40	chr6:34535812-34536294	K562	blood:	n/a	n/a
37	BRCA1	chr6:34534813-34534889	H1-hESC	embryonic stem cell:	n/a	n/a
38	BRCA1	chr6:34528656-34528787	HepG2	liver:	n/a	n/a
39	BRCA1	chr6:34495142-34495167	HepG2	liver:	n/a	n/a
40	BRCA1	chr6:34495129-34495249	GM12878	blood:	n/a	n/a
41	BRCA1	chr6:34528383-34528433	HepG2	liver:	n/a	n/a
42	BRCA1	chr6:34539475-34539630	HepG2	liver:	n/a	n/a
43	CBX3	chr6:34494717-34495375	K562	blood:	n/a	n/a
44	CBX3	chr6:34504717-34505022	K562	blood:	n/a	n/a
45	CBX3	chr6:34525771-34526610	K562	blood:	n/a	n/a
46	CBX3	chr6:34540332-34540766	K562	blood:	n/a	n/a
47	CBX3	chr6:34512311-34513045	K562	blood:	n/a	n/a
48	CBX3	chr6:34528238-34529132	K562	blood:	n/a	n/a
49	CBX3	chr6:34486503-34486792	K562	blood:	n/a	n/a
50	CBX3	chr6:34530537-34531593	K562	blood:	n/a	n/a

(count:2690 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:34482479-34482529	AG09319	gingival:	n/a
2	chr6:34493129-34493179	AoSMC	blood vessel:	n/a
3	chr6:34464251-34464301	HIPEpiC	eye:	n/a
4	chr6:34482411-34482461	HAEpiC	amniotic membrane:	n/a
5	chr6:34499488-34499538	AoSMC	blood vessel:	n/a
6	chr6:34493129-34493179	HEK293	kidney:	embryo
7	chr6:34482479-34482529	AG09319	gingival:	n/a
8	chr6:34493129-34493179	AoSMC	blood vessel:	n/a
9	chr6:34464251-34464301	HIPEpiC	eye:	n/a
10	chr6:34482411-34482461	HAEpiC	amniotic membrane:	n/a
11	chr6:34499488-34499538	AoSMC	blood vessel:	n/a
12	chr6:34493129-34493179	HEK293	kidney:	embryo
13	chr6:34495124-34495174	NB4	blood:	n/a
14	chr6:34501193-34501243	HEEpiC	esophagus:	n/a
15	chr6:34502119-34502169	SKMC	muscle:	n/a
16	chr6:34499314-34499364	ProgFib	skin:	n/a
17	chr6:34514887-34514937	HIPEpiC	eye:	n/a
18	chr6:34535602-34535652	SK-N-MC	brain:	n/a
19	chr6:34514887-34514937	AG10803	skin:	n/a
20	chr6:34524698-34524748	AG04449	skin:	fetal
21	chr6:34523925-34523975	BJ	skin:	n/a
22	chr6:34495308-34495358	HIPEpiC	eye:	n/a
23	chr6:34486129-34486179	IMR90	lung:	fetal
24	chr6:34524698-34524748	RPTEC	kidney:	n/a
25	chr6:34495393-34495443	IMR90	lung:	fetal
26	chr6:34464251-34464301	SK-N-SH_RA	brain:	n/a
27	chr6:34508820-34508870	HepG2	liver:	n/a
28	chr6:34499488-34499538	ovcar-3	ovarian:	n/a
29	chr6:34495124-34495174	AG10803	skin:	n/a
30	chr6:34499314-34499364	NT2-D1	testis:	n/a
31	chr6:34498918-34498968	Hepatocyte	liver:	n/a
32	chr6:34511514-34511564	GM12892	blood:	n/a
33	chr6:34489552-34489602	T-47D	breast:	n/a
34	chr6:34502119-34502169	MCF-7	breast:	n/a
35	chr6:34524095-34524145	ProgFib	skin:	n/a
36	chr6:34524766-34524816	HAEpiC	amniotic membrane:	n/a
37	chr6:34499314-34499364	PANC-1	pancreas:	n/a
38	chr6:34494976-34495026	ECC-1	luminal epithelium:	n/a
39	chr6:34508820-34508870	MCF-7	breast:	n/a
40	chr6:34482411-34482461	GM12891	blood:	n/a
41	chr6:34505610-34505660	SKMC	muscle:	n/a
42	chr6:34543055-34543105	NB4	blood:	n/a
43	chr6:34495124-34495174	H1-hESC	embryonic stem cell:	embryo
44	chr6:34464251-34464301	GM12891	blood:	n/a
45	chr6:34499389-34499439	HMEC	breast:	n/a
46	chr6:34495124-34495174	ProgFib	skin:	n/a
47	chr6:34504890-34504940	HCF	heart:	n/a
48	chr6:34499488-34499538	HRE	kidney:	n/a
49	chr6:34482479-34482529	SKMC	muscle:	n/a
50	chr6:34524597-34524647	GM12891	blood:	n/a

(count:200 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr6:34189603..34191937-chr6:34485538..34487216,2	MCF-7	breast:
2	chr6:34527129..34530623-chr6:34530939..34533511,3	K562	blood:
3	chr6:34536153..34538160-chr6:34545936..34548526,2	MCF-7	breast:
4	chr6:34480102..34483166-chr6:34493351..34495807,3	MCF-7	breast:
5	chr6:34496972..34497706-chr6:34576720..34577905,3	MCF-7	breast:
6	chr6:34501585..34503222-chr6:34504276..34506644,2	K562	blood:
7	chr6:34491195..34497458-chr6:34528901..34533837,5	K562	blood:
8	chr6:34478801..34483587-chr6:34487248..34491572,6	K562	blood:
9	chr6:34479843..34482340-chr6:34557175..34560153,2	K562	blood:
10	chr6:34483206..34485571-chr6:34540552..34542756,2	K562	blood:
11	chr6:34495679..34498360-chr6:34503054..34505628,3	MCF-7	breast:
12	chr6:34522438..34524089-chr6:34549801..34552822,3	MCF-7	breast:
13	chr6:34438209..34440665-chr6:34531080..34532692,2	K562	blood:
14	chr6:34439344..34441190-chr6:34462039..34464180,2	K562	blood:
15	chr6:34491359..34493717-chr6:34499044..34502529,3	K562	blood:
16	chr6:34491195..34497458-chr6:34528901..34533837,5	K562	blood:
17	chr6:34505107..34506692-chr6:34515801..34518168,2	MCF-7	breast:
18	chr6:34211149..34214132-chr6:34498415..34499975,2	K562	blood:
19	chr6:34494873..34497912-chr6:34521168..34524393,3	MCF-7	breast:
20	chr6:34498077..34501386-chr6:34521162..34524580,5	MCF-7	breast:
21	chr6:34427418..34428084-chr6:34497140..34498209,3	MCF-7	breast:
22	chr6:34392344..34394131-chr6:34485515..34488152,2	MCF-7	breast:
23	chr6:34529337..34532289-chr6:34533729..34536883,4	K562	blood:
24	chr6:34514809..34519137-chr6:34522826..34525341,4	K562	blood:
25	chr6:34512842..34514603-chr6:34573896..34576620,2	MCF-7	breast:
26	chr6:34524749..34526335-chr6:34530684..34532317,2	K562	blood:
27	chr6:34502047..34504010-chr6:34512836..34514494,2	K562	blood:
28	chr18:50300436..50303454-chr6:34521553..34523812,3	MCF-7	breast:
29	chr6:34546025..34550946-chr6:34551862..34556143,7	K562	blood:
30	chr6:34514887..34517520-chr6:34540730..34542846,2	MCF-7	breast:
31	chr6:34497355..34498033-chr6:34557195..34557723,2	MCF-7	breast:
32	chr6:34490944..34493717-chr6:34499736..34502529,2	K562	blood:
33	chr6:34493632..34501782-chr6:34512451..34525873,25	MCF-7	breast:
34	chr6:34501160..34503078-chr6:34510332..34511859,2	K562	blood:
35	chr6:34494049..34496847-chr6:34497897..34503319,6	K562	blood:
36	chr6:34470873..34473363-chr6:34480667..34483208,2	MCF-7	breast:
37	chr6:34508361..34510823-chr6:34510978..34513076,2	MCF-7	breast:
38	chr6:34439690..34441668-chr6:34462680..34464330,2	K562	blood:
39	chr6:34494545..34497462-chr6:34498275..34503019,6	MCF-7	breast:
40	chr6:34524749..34526335-chr6:34530684..34532317,2	K562	blood:
41	chr20:52484501..52486317-chr6:34526583..34529198,2	MCF-7	breast:
42	chr6:34509583..34511363-chr6:34518250..34520010,2	K562	blood:
43	chr6:34527055..34529917-chr6:34543453..34544974,2	MCF-7	breast:
44	chr6:34495679..34498360-chr6:34503054..34505628,3	MCF-7	breast:
45	chr6:34483206..34485571-chr6:34540552..34542756,2	K562	blood:
46	chr6:34473007..34475169-chr6:34486448..34488656,2	K562	blood:
47	chr6:34528409..34535112-chr6:34539790..34543716,10	K562	blood:
48	chr6:34528981..34530580-chr6:34530582..34532257,2	MCF-7	breast:
49	chr6:34503128..34505845-chr6:34536309..34539232,2	K562	blood:
50	chr6:34550788..34556388-chr6:34565460..34570894,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000196114	TF binding region
SPDEF	TF binding region
PACSIN1	TF binding region
ENSG00000196114	CpG island
SPDEF	CpG island
PACSIN1	CpG island
ENSG00000137309	chromatin interactions
ENSG00000204257	chromatin interactions
ENSG00000270800	chromatin interactions
ENSG00000204256	chromatin interactions
ENSG00000196114	chromatin interactions
ENSG00000221635	chromatin interactions
ENSG00000124614	chromatin interactions
ENSG00000124507	chromatin interactions
ENSG00000223837	chromatin interactions
ENSG00000186577	chromatin interactions
ENSG00000124664	chromatin interactions

Extended variants
information (count: 3700 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:3700 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3904668	chr6:34464010-34464011	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573443947	chr6:34464024-34464025	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111265425	chr6:34464062-34464063	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184045553	chr6:34464078-34464079	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115171042	chr6:34464099-34464100	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141379720	chr6:34464117-34464118	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147423869	chr6:34464166-34464167	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554391450	chr6:34464179-34464180	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574167437	chr6:34464213-34464214	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532975799	chr6:34464238-34464239	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551349618	chr6:34464239-34464240	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187686492	chr6:34464252-34464253	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372360074	chr6:34464263-34464264	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543279136	chr6:34464303-34464304	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138130357	chr6:34464348-34464349	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533692680	chr6:34464359-34464360	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548774570	chr6:34464478-34464479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567163043	chr6:34464484-34464485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7768481	chr6:34464510-34464511	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs557458453	chr6:34464583-34464584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143587911	chr6:34464621-34464622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368964108	chr6:34464649-34464650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550993628	chr6:34464672-34464673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201896500	chr6:34464681-34464682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374111001	chr6:34464682-34464683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200613327	chr6:34464718-34464719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11464603	chr6:34464719-34464720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72034615	chr6:34464738-34464739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539837251	chr6:34464795-34464796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189790269	chr6:34464819-34464820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182087614	chr6:34464870-34464871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10947506	chr6:34464881-34464882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs555989912	chr6:34464946-34464947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563788583	chr6:34464947-34464948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543955731	chr6:34464975-34464976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532844697	chr6:34464979-34464980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532763294	chr6:34465017-34465018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11967985	chr6:34465041-34465042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559975985	chr6:34465048-34465049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs61316456	chr6:34465056-34465057	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs548913616	chr6:34465163-34465164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs57018638	chr6:34465213-34465214	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs75776386	chr6:34465215-34465216	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs58206657	chr6:34465221-34465222	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139828209	chr6:34465294-34465295	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569357282	chr6:34465306-34465307	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373735539	chr6:34465337-34465338	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539406729	chr6:34465347-34465348	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558195099	chr6:34465350-34465351	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78819869	chr6:34465377-34465378	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1623 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34441400-34494000	Weak transcription	Right Atrium	heart
2	chr6:34444600-34468200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:34454400-34464800	Weak transcription	Thymus	Thymus
4	chr6:34463800-34464200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:34463800-34464400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:34463800-34464400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:34464000-34464600	Enhancers	Brain Germinal Matrix	brain
8	chr6:34464200-34466000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:34465000-34465600	Enhancers	Placenta	Placenta
10	chr6:34465200-34465400	Enhancers	K562	blood
11	chr6:34465200-34465600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:34468200-34468800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:34471200-34471400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:34471400-34474400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:34473600-34474400	Weak transcription	HSMMtube	muscle
16	chr6:34474000-34475200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr6:34474400-34474600	Enhancers	Lung	lung
18	chr6:34474400-34474800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr6:34474400-34474800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr6:34474400-34474800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:34474400-34474800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:34474400-34475000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr6:34474400-34475200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr6:34474400-34475200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:34474400-34475200	Enhancers	HSMMtube	muscle
26	chr6:34474600-34475000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr6:34474600-34475200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr6:34474600-34475600	Enhancers	K562	blood
29	chr6:34474800-34475200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr6:34474800-34479600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr6:34474800-34481400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr6:34474800-34481600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr6:34475000-34475400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:34475000-34479800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr6:34475200-34475400	Weak transcription	HSMMtube	muscle
36	chr6:34475200-34479600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr6:34475200-34480400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr6:34475200-34480600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr6:34475200-34480800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:34475400-34475600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:34475600-34480400	Weak transcription	K562	blood
42	chr6:34475600-34480800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr6:34479000-34479600	Enhancers	Brain Germinal Matrix	brain
44	chr6:34479000-34480600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr6:34479000-34480600	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr6:34479000-34485200	Enhancers	Fetal Brain Male	brain
47	chr6:34479400-34480400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:34479600-34479800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr6:34479600-34479800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:34479600-34479800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links