Variant report

Variant	nsv876778
Chromosome Location	chr3:50413707-50465518
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:713)
CpG islands
(count:305)
Chromatin interactive
region (count:62)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:713 , 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	ATF1	chr3:50456353-50456629	K562	blood:	n/a	n/a
2	BHLHE40	chr3:50457010-50457416	K562	blood:	n/a	n/a
3	BHLHE40	chr3:50428069-50428269	K562	blood:	n/a	n/a
4	BHLHE40	chr3:50423119-50423245	K562	blood:	n/a	n/a
5	BHLHE40	chr3:50460992-50461317	HepG2	liver:	n/a	n/a
6	BHLHE40	chr3:50449829-50449999	K562	blood:	n/a	chr3:50449916-50449925 chr3:50449910-50449931 chr3:50449916-50449925 chr3:50449915-50449924
7	BHLHE40	chr3:50426024-50426111	K562	blood:	n/a	n/a
8	CCNT2	chr3:50443380-50443509	K562	blood:	n/a	n/a
9	CEBPB	chr3:50416390-50416430	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr3:50421997-50422262	Hela-S3	cervix:	n/a	chr3:50422147-50422158 chr3:50422101-50422109 chr3:50422146-50422157
11	CEBPB	chr3:50465407-50465708	MCF-7	breast:	n/a	n/a
12	CEBPB	chr3:50456519-50456614	K562	blood:	n/a	n/a
13	CEBPB	chr3:50427480-50427648	HepG2	liver:	n/a	chr3:50427529-50427540 chr3:50427528-50427541
14	CEBPB	chr3:50422114-50422237	A549	lung:	n/a	chr3:50422147-50422158 chr3:50422146-50422157
15	CEBPB	chr3:50422038-50422268	H1-hESC	embryonic stem cell:	n/a	chr3:50422147-50422158 chr3:50422101-50422109 chr3:50422146-50422157
16	CEBPB	chr3:50461031-50461161	HepG2	liver:	n/a	n/a
17	CEBPB	chr3:50421994-50422330	IMR90	lung:	n/a	chr3:50422147-50422158 chr3:50422101-50422109 chr3:50422146-50422157
18	CEBPB	chr3:50460960-50461267	HepG2	liver:	n/a	n/a
19	CEBPB	chr3:50421994-50422291	K562	blood:	n/a	chr3:50422147-50422158 chr3:50422101-50422109 chr3:50422146-50422157
20	CEBPB	chr3:50460977-50461256	HepG2	liver:	n/a	n/a
21	CEBPB	chr3:50442804-50442947	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr3:50422074-50422310	HepG2	liver:	n/a	chr3:50422147-50422158 chr3:50422101-50422109 chr3:50422146-50422157
23	CEBPB	chr3:50460948-50461295	MCF-7	breast:	n/a	n/a
24	CHD2	chr3:50425976-50426052	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr3:50452600-50452750	K562	blood:	n/a	n/a
26	CTCF	chr3:50457135-50457236	MCF-7	breast:	n/a	n/a
27	CTCF	chr3:50452560-50452710	HMEC	breast:	n/a	n/a
28	CTCF	chr3:50426100-50426250	HA-sp	spinal cord:	n/a	n/a
29	CTCF	chr3:50425920-50426070	GM06990	blood:	n/a	n/a
30	CTCF	chr3:50452600-50452750	HFF-Myc	foreskin:	n/a	n/a
31	CTCF	chr3:50457072-50457282	K562	blood:	n/a	n/a
32	CTCF	chr3:50452640-50452790	NB4	blood:	n/a	n/a
33	CTCF	chr3:50416401-50416402	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr3:50416460-50416610	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr3:50425840-50425990	GM12868	blood:	n/a	n/a
36	CTCF	chr3:50452638-50452765	GM12878	blood:	n/a	n/a
37	CTCF	chr3:50453760-50453910	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr3:50425858-50426148	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr3:50452620-50452770	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr3:50452800-50452950	BE2_C	brain:	n/a	n/a
41	CTCF	chr3:50452620-50452770	GM12867	blood:	n/a	n/a
42	CTCF	chr3:50452560-50452710	HPF	lung:	n/a	n/a
43	CTCF	chr3:50452655-50452763	Gliobla	brain:	n/a	n/a
44	CTCF	chr3:50465032-50466518	SK-N-SH	brain:	n/a	chr3:50466192-50466199 chr3:50465384-50465402 chr3:50465279-50465288 chr3:50465386-50465399
45	CTCF	chr3:50425800-50425950	HFF-Myc	foreskin:	n/a	n/a
46	CTCF	chr3:50457095-50457288	K562	blood:	n/a	n/a
47	CTCF	chr3:50425940-50426090	GM12873	blood:	n/a	n/a
48	CTCF	chr3:50457012-50457273	K562	blood:	n/a	n/a
49	CTCF	chr3:50465500-50465650	AG09309	skin:	n/a	n/a
50	CTCF	chr3:50425943-50426081	GM13977	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:50425602-50425652	H1-hESC	embryonic stem cell:	embryo
2	chr3:50425602-50425652	BJ	skin:	n/a
3	chr3:50426640-50426690	H1-hESC	embryonic stem cell:	embryo
4	chr3:50425698-50425748	HepG2	liver:	n/a
5	chr3:50425602-50425652	HRPEpiC	eye:	n/a
6	chr3:50426605-50426655	U87	brain:	n/a
7	chr3:50425602-50425652	GM12891	blood:	n/a
8	chr3:50425602-50425652	HMEC	breast:	n/a
9	chr3:50426605-50426655	HEK293	kidney:	embryo
10	chr3:50426605-50426655	AoSMC	blood vessel:	n/a
11	chr3:50426640-50426690	T-47D	breast:	n/a
12	chr3:50426640-50426690	HepG2	liver:	n/a
13	chr3:50425698-50425748	U87	brain:	n/a
14	chr3:50426640-50426690	SK-N-SH	brain:	n/a
15	chr3:50425602-50425652	LNCaP	prostate:	n/a
16	chr3:50425698-50425748	HRCEpiC	kidney:	n/a
17	chr3:50452888-50452938	HepG2	liver:	n/a
18	chr3:50426640-50426690	HCPEpiC	choroid plexus:	n/a
19	chr3:50426605-50426655	T-47D	breast:	n/a
20	chr3:50426640-50426690	NHDF-neo	bronchial:	n/a
21	chr3:50425698-50425748	HEEpiC	esophagus:	n/a
22	chr3:50425698-50425748	K562	blood:	n/a
23	chr3:50426640-50426690	BJ	skin:	n/a
24	chr3:50425602-50425652	HRCEpiC	kidney:	n/a
25	chr3:50425602-50425652	Hepatocyte	liver:	n/a
26	chr3:50425602-50425652	Caco-2	colon:	n/a
27	chr3:50426640-50426690	IMR90	lung:	fetal
28	chr3:50425698-50425748	PrEC	prostate:	n/a
29	chr3:50426605-50426655	HCF	heart:	n/a
30	chr3:50426605-50426655	HRPEpiC	eye:	n/a
31	chr3:50425602-50425652	AG09319	gingival:	n/a
32	chr3:50426640-50426690	NB4	blood:	n/a
33	chr3:50425698-50425748	A549	lung:	n/a
34	chr3:50426605-50426655	NHBE	bronchial:	n/a
35	chr3:50425602-50425652	HCT-116	colon:	n/a
36	chr3:50452888-50452938	HCM	heart:	n/a
37	chr3:50426605-50426655	HAEpiC	amniotic membrane:	n/a
38	chr3:50426640-50426690	LNCaP	prostate:	n/a
39	chr3:50426640-50426690	HL-60	blood:	n/a
40	chr3:50425602-50425652	PANC-1	pancreas:	n/a
41	chr3:50452888-50452938	AG10803	skin:	n/a
42	chr3:50425602-50425652	HAEpiC	amniotic membrane:	n/a
43	chr3:50425698-50425748	GM06990	blood:	n/a
44	chr3:50426605-50426655	NH-A	brain:	n/a
45	chr3:50426605-50426655	HMEC	breast:	n/a
46	chr3:50426605-50426655	HEEpiC	esophagus:	n/a
47	chr3:50452888-50452938	HL-60	blood:	n/a
48	chr3:50425602-50425652	HCM	heart:	n/a
49	chr3:50425602-50425652	SK-N-SH_RA	brain:	n/a
50	chr3:50425698-50425748	SK-N-SH	brain:	n/a

(count:62 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:50423026..50425468-chr3:50433598..50435342,2	K562	blood:
2	chr3:50434095..50435683-chr3:50439071..50441884,2	K562	blood:
3	chr3:50459643..50461705-chr3:50463877..50466245,2	MCF-7	breast:
4	chr3:50406050..50408278-chr3:50414386..50416245,2	MCF-7	breast:
5	chr3:50382316..50385000-chr3:50428533..50431219,2	K562	blood:
6	chr3:50383805..50388003-chr3:50462564..50464902,4	MCF-7	breast:
7	chr3:50394292..50396980-chr3:50412055..50414700,2	K562	blood:
8	chr3:50372057..50375135-chr3:50415126..50417223,3	K562	blood:
9	chr3:50394585..50396465-chr3:50463450..50466153,2	MCF-7	breast:
10	chr3:50443241..50445016-chr3:50452041..50453716,2	K562	blood:
11	chr3:50432433..50434398-chr3:50436180..50438200,2	K562	blood:
12	chr3:50432925..50435019-chr3:50624973..50626614,2	MCF-7	breast:
13	chr3:50415673..50418244-chr3:50436482..50438433,2	K562	blood:
14	chr3:50395965..50398568-chr3:50443812..50445898,2	K562	blood:
15	chr3:50420710..50423893-chr3:50432080..50434789,3	MCF-7	breast:
16	chr1:19922789..19925060-chr3:50453288..50455682,2	MCF-7	breast:
17	chr3:50420263..50421916-chr3:50428504..50431466,2	K562	blood:
18	chr3:50401924..50404224-chr3:50431780..50433415,2	MCF-7	breast:
19	chr3:50374030..50376219-chr3:50433373..50435985,2	MCF-7	breast:
20	chr3:50384491..50385364-chr3:50453491..50454093,2	K562	blood:
21	chr3:50443241..50445016-chr3:50452041..50453716,2	K562	blood:
22	chr3:50456231..50458709-chr3:50462993..50464960,2	K562	blood:
23	chr3:50439870..50442603-chr3:50444449..50445977,2	K562	blood:
24	chr3:50335068..50338048-chr3:50427716..50429886,2	MCF-7	breast:
25	chr3:50419009..50422090-chr3:50424618..50428241,4	MCF-7	breast:
26	chr3:50459643..50461705-chr3:50463877..50466245,2	MCF-7	breast:
27	chr3:50443137..50446145-chr3:50446726..50449794,4	K562	blood:
28	chr3:50419009..50422090-chr3:50424618..50428241,4	MCF-7	breast:
29	chr3:50392667..50394424-chr3:50425965..50428609,2	MCF-7	breast:
30	chr3:50310267..50310922-chr3:50465221..50465893,2	MCF-7	breast:
31	chr3:50404490..50407147-chr3:50464074..50466361,2	K562	blood:
32	chr3:50384426..50385342-chr3:50425519..50426240,3	MCF-7	breast:
33	chr3:50430686..50433104-chr3:50437469..50439018,2	MCF-7	breast:
34	chr3:50403729..50405673-chr3:50419151..50420846,2	MCF-7	breast:
35	chr3:50433810..50435644-chr3:50457889..50460766,2	K562	blood:
36	chr3:50420263..50421916-chr3:50428504..50431466,2	K562	blood:
37	chr3:50402721..50404447-chr3:50416465..50418534,2	MCF-7	breast:
38	chr3:50450589..50453159-chr3:50453865..50456485,2	K562	blood:
39	chr3:50388707..50391851-chr3:50462980..50465822,3	MCF-7	breast:
40	chr3:50460270..50462499-chr3:50463846..50465815,2	MCF-7	breast:
41	chr3:50335932..50338448-chr3:50416398..50418130,2	K562	blood:
42	chr3:50439870..50442603-chr3:50444449..50445977,2	K562	blood:
43	chr3:50456073..50458171-chr3:50458882..50461266,2	K562	blood:
44	chr3:50464652..50467495-chr3:50469517..50472085,2	MCF-7	breast:
45	chr3:50412196..50414182-chr3:50466596..50468838,2	MCF-7	breast:
46	chr3:50430686..50433104-chr3:50437469..50439018,2	MCF-7	breast:
47	chr3:50450589..50453159-chr3:50453865..50456485,2	K562	blood:
48	chr3:50443137..50446145-chr3:50446726..50449794,4	K562	blood:
49	chr3:50402953..50405922-chr3:50425118..50426805,2	MCF-7	breast:
50	chr3:50434095..50435683-chr3:50439071..50441884,2	K562	blood:

No data

Variant related genes	Relation type
RNA5SP131	TF binding region
RNA5SP131	CpG island
ENSG00000235185	chromatin interactions
ENSG00000173436	chromatin interactions
ENSG00000114388	chromatin interactions
ENSG00000202322	chromatin interactions
ENSG00000126062	chromatin interactions
ENSG00000004838	chromatin interactions
ENSG00000068028	chromatin interactions
ENSG00000270136	chromatin interactions
ENSG00000186792	chromatin interactions
ENSG00000012171	chromatin interactions
ENSG00000007402	chromatin interactions
ENSG00000243477	chromatin interactions
ENSG00000271858	chromatin interactions

Extended variants
information (count: 1826 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1826 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7615488	chr3:50413707-50413708	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs587702936	chr3:50413711-50413712	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs587773871	chr3:50413713-50413714	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146410523	chr3:50413720-50413721	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs587658106	chr3:50413724-50413725	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs587638444	chr3:50413746-50413747	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs587688491	chr3:50413747-50413748	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs587764894	chr3:50413759-50413760	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs587646225	chr3:50413771-50413772	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs587720135	chr3:50413798-50413799	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs587600041	chr3:50413861-50413862	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs587654845	chr3:50414064-50414065	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145143753	chr3:50414122-50414123	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs587611090	chr3:50414136-50414137	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373115439	chr3:50414152-50414153	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs587741387	chr3:50414164-50414165	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs587597698	chr3:50414274-50414275	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs587674071	chr3:50414275-50414276	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs587721909	chr3:50414289-50414290	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs587649710	chr3:50414297-50414298	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115692863	chr3:50414313-50414314	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12490809	chr3:50414404-50414405	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs587652114	chr3:50414409-50414410	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193233869	chr3:50414488-50414489	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs587717407	chr3:50414537-50414538	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs587765700	chr3:50414550-50414551	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs587635035	chr3:50414570-50414571	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs587702579	chr3:50414589-50414590	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs58415636	chr3:50414620-50414621	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs587657066	chr3:50414655-50414656	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs587712532	chr3:50414676-50414677	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374244709	chr3:50414696-50414697	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs587606557	chr3:50414734-50414735	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs587637979	chr3:50414745-50414746	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79937307	chr3:50414797-50414798	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138947939	chr3:50414812-50414813	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370007437	chr3:50414868-50414869	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145152781	chr3:50414873-50414874	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149337367	chr3:50414875-50414876	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372234435	chr3:50414876-50414877	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146279759	chr3:50414898-50414899	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200816734	chr3:50414904-50414905	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375331798	chr3:50414910-50414911	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139046100	chr3:50414917-50414918	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185363085	chr3:50414977-50414978	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372212711	chr3:50414980-50414981	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs587754429	chr3:50414984-50414985	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189026800	chr3:50415032-50415033	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373516392	chr3:50415070-50415071	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs587664774	chr3:50415074-50415075	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:524 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50403200-50417200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:50404600-50415400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr3:50405000-50416400	Weak transcription	Gastric	stomach
4	chr3:50408800-50423800	Weak transcription	Fetal Brain Female	brain
5	chr3:50409000-50419600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr3:50409200-50420200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:50410200-50415800	Weak transcription	Spleen	Spleen
8	chr3:50411400-50419200	Weak transcription	Fetal Kidney	kidney
9	chr3:50411400-50422600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr3:50411400-50430000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr3:50411600-50416400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr3:50412000-50414000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:50412800-50417200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:50412800-50428000	Weak transcription	Right Ventricle	heart
15	chr3:50413000-50417600	Weak transcription	Fetal Muscle Leg	muscle
16	chr3:50413000-50418800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:50413200-50419200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:50413200-50421000	Weak transcription	Lung	lung
19	chr3:50413400-50413800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr3:50413400-50414200	Weak transcription	Brain Germinal Matrix	brain
21	chr3:50413600-50413800	Enhancers	Primary hematopoietic stem cells	blood
22	chr3:50413600-50415200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr3:50413800-50415000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr3:50414000-50415600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:50414000-50420600	Weak transcription	Fetal Intestine Small	intestine
26	chr3:50414200-50414800	Enhancers	Brain Germinal Matrix	brain
27	chr3:50414200-50415000	Enhancers	Ovary	ovary
28	chr3:50414800-50415200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:50414800-50416800	Weak transcription	Brain Germinal Matrix	brain
30	chr3:50415000-50419600	Weak transcription	Ovary	ovary
31	chr3:50415200-50417000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr3:50415200-50428400	Weak transcription	Brain Anterior Caudate	brain
33	chr3:50415400-50415600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr3:50415400-50417000	Enhancers	H1 Cell Line	embryonic stem cell
35	chr3:50415600-50416000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:50415600-50416200	Bivalent Enhancer	HepG2	liver
37	chr3:50415800-50416000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr3:50415800-50416000	Enhancers	Spleen	Spleen
39	chr3:50416000-50416400	Weak transcription	Spleen	Spleen
40	chr3:50416000-50421200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:50416400-50416800	Enhancers	Spleen	Spleen
42	chr3:50416400-50417000	Strong transcription	Gastric	stomach
43	chr3:50416400-50417400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr3:50416600-50416800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr3:50416800-50417000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr3:50416800-50417000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr3:50416800-50419600	Weak transcription	Fetal Stomach	stomach
48	chr3:50416800-50420200	Weak transcription	Spleen	Spleen
49	chr3:50416800-50420600	Enhancers	Brain Germinal Matrix	brain
50	chr3:50417000-50417400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links