Variant report

Variant	nsv984539
Chromosome Location	chr3:194945800-194984579
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1373)
CpG islands
(count:918)
Chromatin interactive
region (count:58)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1373 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:194980605-194981062	HepG2	liver:	n/a	n/a
2	ATF2	chr3:194973158-194973911	GM12878	blood:	n/a	n/a
3	ATF2	chr3:194973277-194973810	GM12878	blood:	n/a	n/a
4	ATF2	chr3:194980326-194980973	GM12878	blood:	n/a	n/a
5	ATF2	chr3:194980063-194981060	GM12878	blood:	n/a	n/a
6	ATF3	chr3:194980658-194981060	K562	blood:	n/a	n/a
7	BACH1	chr3:194973737-194973883	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr3:194980482-194980542	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr3:194980776-194980789	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr3:194980451-194980813	GM12878	blood:	n/a	n/a
11	BATF	chr3:194971776-194972135	GM12878	blood:	n/a	n/a
12	BCL11A	chr3:194980231-194980928	GM12878	blood:	n/a	chr3:194980878-194980891
13	BCL11A	chr3:194973504-194973740	GM12878	blood:	n/a	n/a
14	BCL11A	chr3:194980538-194980923	GM12878	blood:	n/a	chr3:194980878-194980891
15	BCL3	chr3:194973271-194973871	GM12878	blood:	n/a	n/a
16	BCL3	chr3:194980184-194981223	GM12878	blood:	n/a	chr3:194981091-194981104 chr3:194980878-194980891 chr3:194981004-194981013
17	BCLAF1	chr3:194980288-194981316	GM12878	blood:	n/a	chr3:194981091-194981104 chr3:194980878-194980891 chr3:194981004-194981013
18	BCLAF1	chr3:194980183-194981359	GM12878	blood:	n/a	chr3:194981091-194981104 chr3:194980878-194980891 chr3:194981004-194981013
19	BHLHE40	chr3:194979753-194981277	K562	blood:	n/a	chr3:194980430-194980446 chr3:194981064-194981080 chr3:194981212-194981228 chr3:194981089-194981105 chr3:194980439-194980455
20	BHLHE40	chr3:194947865-194948109	K562	blood:	n/a	n/a
21	BHLHE40	chr3:194980179-194981145	HepG2	liver:	n/a	chr3:194980430-194980446 chr3:194981064-194981080 chr3:194981089-194981105 chr3:194980439-194980455
22	BHLHE40	chr3:194973310-194974023	GM12878	blood:	n/a	n/a
23	BHLHE40	chr3:194971671-194972093	GM12878	blood:	n/a	n/a
24	BHLHE40	chr3:194979921-194981317	GM12878	blood:	n/a	chr3:194980430-194980446 chr3:194981064-194981080 chr3:194981212-194981228 chr3:194981089-194981105 chr3:194980439-194980455
25	BRCA1	chr3:194968528-194968718	H1-hESC	embryonic stem cell:	n/a	n/a
26	BRCA1	chr3:194981006-194981049	H1-hESC	embryonic stem cell:	n/a	n/a
27	CBX3	chr3:194979508-194980908	K562	blood:	n/a	n/a
28	CBX3	chr3:194968473-194969438	K562	blood:	n/a	n/a
29	CBX3	chr3:194947804-194948190	K562	blood:	n/a	n/a
30	CCNT2	chr3:194980297-194981307	K562	blood:	n/a	n/a
31	CEBPB	chr3:194980705-194980944	HepG2	liver:	n/a	n/a
32	CEBPB	chr3:194980665-194981201	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr3:194966632-194966833	A549	lung:	n/a	n/a
34	CEBPB	chr3:194973748-194973759	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr3:194980645-194981040	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr3:194980608-194980942	K562	blood:	n/a	n/a
37	CEBPB	chr3:194980471-194981053	ECC-1	luminal epithelium:	n/a	chr3:194980477-194980488
38	CEBPB	chr3:194980570-194980989	HepG2	liver:	n/a	n/a
39	CEBPB	chr3:194980621-194980998	HepG2	liver:	n/a	n/a
40	CEBPB	chr3:194980612-194980991	IMR90	lung:	n/a	n/a
41	CEBPB	chr3:194982313-194982508	A549	lung:	n/a	n/a
42	CEBPB	chr3:194980594-194980941	K562	blood:	n/a	n/a
43	CEBPB	chr3:194960835-194961123	HepG2	liver:	n/a	n/a
44	CEBPB	chr3:194980580-194981057	HepG2	liver:	n/a	n/a
45	CEBPB	chr3:194982301-194982463	HepG2	liver:	n/a	n/a
46	CEBPD	chr3:194980624-194981108	HepG2	liver:	n/a	n/a
47	CEBPD	chr3:194980280-194981255	HepG2	liver:	n/a	n/a
48	CHD1	chr3:194973749-194973920	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD1	chr3:194982746-194982769	GM12878	blood:	n/a	n/a
50	CHD1	chr3:194979653-194979695	GM12878	blood:	n/a	n/a

(count:918 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:194967958-194968008	T-47D	breast:	n/a
2	chr3:194968024-194968074	SK-N-SH_RA	brain:	n/a
3	chr3:194980766-194980816	HCT-116	colon:	n/a
4	chr3:194967958-194968008	T-47D	breast:	n/a
5	chr3:194968024-194968074	SK-N-SH_RA	brain:	n/a
6	chr3:194980766-194980816	HCT-116	colon:	n/a
7	chr3:194979832-194979882	SK-N-SH_RA	brain:	n/a
8	chr3:194978283-194978333	HCM	heart:	n/a
9	chr3:194979832-194979882	GM06990	blood:	n/a
10	chr3:194959645-194959695	BE2_C	brain:	n/a
11	chr3:194980397-194980447	HepG2	liver:	n/a
12	chr3:194981274-194981324	MCF-7	breast:	n/a
13	chr3:194980766-194980816	HCM	heart:	n/a
14	chr3:194959645-194959695	HUVEC	blood vessel:	n/a
15	chr3:194979346-194979396	SK-N-SH	brain:	n/a
16	chr3:194979346-194979396	BE2_C	brain:	n/a
17	chr3:194968006-194968056	Hepatocyte	liver:	n/a
18	chr3:194982497-194982547	RPTEC	kidney:	n/a
19	chr3:194978283-194978333	PANC-1	pancreas:	n/a
20	chr3:194980397-194980447	Hepatocyte	liver:	n/a
21	chr3:194979832-194979882	IMR90	lung:	fetal
22	chr3:194968024-194968074	HCF	heart:	n/a
23	chr3:194980397-194980447	HEK293	kidney:	embryo
24	chr3:194968024-194968074	RPTEC	kidney:	n/a
25	chr3:194979346-194979396	SKMC	muscle:	n/a
26	chr3:194967958-194968008	SKMC	muscle:	n/a
27	chr3:194981155-194981205	SKMC	muscle:	n/a
28	chr3:194979832-194979882	HMEC	breast:	n/a
29	chr3:194968024-194968074	AoSMC	blood vessel:	n/a
30	chr3:194980397-194980447	BJ	skin:	n/a
31	chr3:194978283-194978333	Caco-2	colon:	n/a
32	chr3:194979832-194979882	A549	lung:	n/a
33	chr3:194968006-194968056	HPAEpiC	pulmonary alveolar:	n/a
34	chr3:194980766-194980816	HNPCEpiC	eye:	n/a
35	chr3:194980766-194980816	NHBE	bronchial:	n/a
36	chr3:194980766-194980816	ECC-1	luminal epithelium:	n/a
37	chr3:194967958-194968008	RPTEC	kidney:	n/a
38	chr3:194981274-194981324	SK-N-SH_RA	brain:	n/a
39	chr3:194983438-194983488	HAEpiC	amniotic membrane:	n/a
40	chr3:194968006-194968056	Jurkat	blood:	n/a
41	chr3:194959645-194959695	PrEC	prostate:	n/a
42	chr3:194980397-194980447	HRCEpiC	kidney:	n/a
43	chr3:194979832-194979882	ovcar-3	ovarian:	n/a
44	chr3:194983438-194983488	SK-N-MC	brain:	n/a
45	chr3:194979832-194979882	SKMC	muscle:	n/a
46	chr3:194979565-194979615	LNCaP	prostate:	n/a
47	chr3:194983438-194983488	GM12878	blood:	n/a
48	chr3:194946964-194947014	NHDF-neo	bronchial:	n/a
49	chr3:194968024-194968074	Caco-2	colon:	n/a
50	chr3:194982497-194982547	HL-60	blood:	n/a

(count:58 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:194966220..194968581-chr3:194971478..194973541,3	K562	blood:
2	chr3:194956680..194958904-chr3:194960408..194963314,3	K562	blood:
3	chr3:194835818..194838322-chr3:194977897..194980111,2	K562	blood:
4	chr3:194972134..194974617-chr3:194976070..194977949,2	MCF-7	breast:
5	chr3:194966220..194968581-chr3:194971478..194973541,3	K562	blood:
6	chr3:194967605..194970943-chr3:194977628..194981159,3	K562	blood:
7	chr3:194974867..194977335-chr3:194981493..194983475,2	K562	blood:
8	chr3:194945629..194947428-chr3:194950514..194952678,2	K562	blood:
9	chr3:194972134..194974617-chr3:194976070..194977949,2	MCF-7	breast:
10	chr3:194966215..194969302-chr3:194974051..194976672,3	K562	blood:
11	chr3:194976110..194978036-chr3:194980036..194982225,2	MCF-7	breast:
12	chr3:194978258..194982064-chr3:194982349..194986625,5	MCF-7	breast:
13	chr3:194941540..194944139-chr3:194945711..194947318,2	K562	blood:
14	chr3:194971128..194973869-chr3:194974801..194977489,3	MCF-7	breast:
15	chr3:194942662..194945263-chr3:194948423..194950004,2	K562	blood:
16	chr3:194721087..194723630-chr3:194980904..194982475,2	K562	blood:
17	chr3:194406617..194407798-chr3:194980503..194981487,3	MCF-7	breast:
18	chr3:194943164..194945109-chr3:194956482..194959428,2	K562	blood:
19	chr3:194960264..194964469-chr3:194965437..194968567,4	K562	blood:
20	chr3:194960264..194964469-chr3:194965437..194968567,4	K562	blood:
21	chr3:194976111..194979050-chr3:194979100..194980799,3	K562	blood:
22	chr3:194392232..194392933-chr3:194980494..194981402,6	K562	blood:
23	chr3:194961727..194964469-chr3:194966524..194968567,2	K562	blood:
24	chr3:194967605..194970943-chr3:194977628..194981159,3	K562	blood:
25	chr3:194391105..194394740-chr3:194978001..194983059,6	K562	blood:
26	chr3:194334694..194337644-chr3:194979245..194981066,2	K562	blood:
27	chr3:194979343..194983092-chr3:194989595..194993137,5	K562	blood:
28	chr3:194980181..194984046-chr3:195161738..195167079,6	K562	blood:
29	chr3:194971855..194976497-chr3:194977999..194982150,7	K562	blood:
30	chr3:194942154..194945109-chr3:194956482..194959428,3	K562	blood:
31	chr3:194961621..194965085-chr3:194983168..194985887,3	K562	blood:
32	chr3:194404889..194408128-chr3:194979816..194983069,5	MCF-7	breast:
33	chr3:194391338..194394137-chr3:194977296..194982165,5	MCF-7	breast:
34	chr3:194409357..194411161-chr3:194972030..194973666,2	MCF-7	breast:
35	chr3:194941162..194944048-chr3:194944539..194948128,3	K562	blood:
36	chr3:194956680..194958904-chr3:194960408..194963314,3	K562	blood:
37	chr3:194406617..194409134-chr3:194977645..194979207,2	MCF-7	breast:
38	chr3:194974867..194977335-chr3:194981493..194983475,2	K562	blood:
39	chr3:194391105..194394913-chr3:194978195..194983059,8	K562	blood:
40	chr3:194885157..194887367-chr3:194945162..194946725,2	K562	blood:
41	chr3:194390925..194393722-chr3:194982636..194985275,2	MCF-7	breast:
42	chr3:194471513..194474254-chr3:194977956..194979790,2	K562	blood:
43	chr3:194939806..194942254-chr3:194946145..194947970,2	MCF-7	breast:
44	chr3:194705604..194706265-chr3:194980916..194981422,2	MCF-7	breast:
45	chr3:194945629..194947428-chr3:194950514..194952678,2	K562	blood:
46	chr1:247170817..247171398-chr3:194980386..194981232,2	Hela-S3	cervix:
47	chr3:194874240..194875817-chr3:194979341..194981767,2	K562	blood:
48	chr3:194956917..194959266-chr3:194967812..194970352,2	K562	blood:
49	chr3:194979343..194985907-chr3:194989595..194992143,7	K562	blood:
50	chr3:194826945..194827704-chr3:194947760..194948487,2	MCF-7	breast:

No data

Variant related genes	Relation type
XXYLT1	TF binding region
XXYLT1	CpG island
ENSG00000145014	chromatin interactions
ENSG00000041802	chromatin interactions
ENSG00000114331	chromatin interactions
ENSG00000185112	chromatin interactions
ENSG00000197472	chromatin interactions
ENSG00000173950	chromatin interactions

Extended variants
information (count: 1579 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1579 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61422283	chr3:194945818-194945819	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539008623	chr3:194945831-194945832	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192319132	chr3:194945890-194945891	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141573350	chr3:194945919-194945920	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543604115	chr3:194945921-194945922	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs118079875	chr3:194945925-194945926	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148430674	chr3:194945963-194945964	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141669209	chr3:194945981-194945982	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76280678	chr3:194945995-194945996	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533187672	chr3:194946048-194946049	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150671515	chr3:194946073-194946074	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570348650	chr3:194946173-194946174	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139920070	chr3:194946210-194946211	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376513779	chr3:194946229-194946230	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369567353	chr3:194946264-194946265	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114323814	chr3:194946329-194946330	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372894113	chr3:194946383-194946384	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535229430	chr3:194946387-194946388	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553938460	chr3:194946402-194946403	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572157631	chr3:194946457-194946458	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539458858	chr3:194946473-194946474	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557443714	chr3:194946487-194946488	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115551450	chr3:194946548-194946549	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543390640	chr3:194946564-194946565	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573785941	chr3:194946587-194946588	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144799273	chr3:194946598-194946599	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147968955	chr3:194946616-194946617	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540811448	chr3:194946626-194946627	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs66510151	chr3:194946733-194946734	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs533225182	chr3:194946765-194946766	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75149770	chr3:194946767-194946768	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs67484513	chr3:194946840-194946841	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs565205208	chr3:194946942-194946943	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs117014265	chr3:194946954-194946955	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549459472	chr3:194946965-194946966	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74903803	chr3:194947048-194947049	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183534735	chr3:194947091-194947092	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186423235	chr3:194947111-194947112	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7624032	chr3:194947168-194947169	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs189968521	chr3:194947229-194947230	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573576377	chr3:194947302-194947303	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539508805	chr3:194947308-194947309	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557821365	chr3:194947319-194947320	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182243429	chr3:194947327-194947328	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188336707	chr3:194947381-194947382	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555417056	chr3:194947388-194947389	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370854680	chr3:194947399-194947400	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374359584	chr3:194947410-194947411	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376209907	chr3:194947411-194947412	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116391422	chr3:194947440-194947441	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:1721 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194926400-194947600	Weak transcription	Gastric	stomach
2	chr3:194929800-194947400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr3:194931200-194948800	Weak transcription	Fetal Intestine Large	intestine
4	chr3:194931600-194946600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:194931600-194958800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:194931800-194956600	Weak transcription	K562	blood
7	chr3:194939200-194947600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr3:194939600-194948200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr3:194940200-194946000	Enhancers	Placenta	Placenta
10	chr3:194940400-194948200	Weak transcription	Fetal Kidney	kidney
11	chr3:194940400-194949600	Weak transcription	Colonic Mucosa	Colon
12	chr3:194940600-194959000	Weak transcription	Right Ventricle	heart
13	chr3:194940800-194946800	Weak transcription	Brain Germinal Matrix	brain
14	chr3:194941400-194945800	Weak transcription	Dnd41	blood
15	chr3:194941600-194945800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:194941800-194945800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:194941800-194945800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:194942000-194945800	Enhancers	NHDF-Ad	bronchial
19	chr3:194942200-194952400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr3:194942400-194945800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:194942400-194946000	Enhancers	HUVEC	blood vessel
22	chr3:194942600-194945800	Weak transcription	HepG2	liver
23	chr3:194942600-194948400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:194942800-194946000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr3:194942800-194946200	Weak transcription	Brain Anterior Caudate	brain
26	chr3:194943000-194945800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr3:194943000-194947400	Weak transcription	Fetal Lung	lung
28	chr3:194943000-194947600	Weak transcription	Fetal Heart	heart
29	chr3:194943000-194947800	Weak transcription	Esophagus	oesophagus
30	chr3:194943000-194948000	Weak transcription	Pancreas	Pancrea
31	chr3:194943000-194948600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:194943000-194951000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr3:194943200-194948000	Weak transcription	GM12878-XiMat	blood
34	chr3:194943600-194947600	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr3:194943800-194945800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr3:194944000-194946000	Enhancers	Colon Smooth Muscle	Colon
37	chr3:194944000-194948000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr3:194944200-194946000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr3:194944200-194946600	Strong transcription	Primary T cells from cord blood	blood
40	chr3:194944400-194947800	Strong transcription	Fetal Intestine Small	intestine
41	chr3:194944600-194947200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr3:194944600-194949400	Weak transcription	NHEK	skin
43	chr3:194944600-194959000	Weak transcription	Ovary	ovary
44	chr3:194944800-194947400	Genic enhancers	Fetal Thymus	thymus
45	chr3:194945000-194945800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr3:194945000-194946000	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr3:194945000-194946200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr3:194945000-194946400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr3:194945000-194946400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr3:194945000-194947800	Strong transcription	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links