Variant report

Variant	nsv590347
Chromosome Location	chr3:53079048-53088815
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:695)
CpG islands
(count:366)
Chromatin interactive
region (count:8)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:695 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:53079923-53080078	HepG2	liver:	n/a	n/a
2	ATF2	chr3:53080591-53080904	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr3:53080620-53080928	GM12878	blood:	n/a	n/a
4	BACH1	chr3:53079417-53081172	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr3:53085995-53086184	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCLAF1	chr3:53080452-53080983	GM12878	blood:	n/a	n/a
7	BCLAF1	chr3:53078329-53079258	GM12878	blood:	n/a	n/a
8	BCLAF1	chr3:53079955-53080354	GM12878	blood:	n/a	n/a
9	BHLHE40	chr3:53080387-53080740	A549	lung:	n/a	n/a
10	BHLHE40	chr3:53080388-53080805	K562	blood:	n/a	n/a
11	BHLHE40	chr3:53079770-53081260	GM12878	blood:	n/a	n/a
12	BHLHE40	chr3:53079792-53080082	K562	blood:	n/a	n/a
13	CCNT2	chr3:53079023-53080645	K562	blood:	n/a	chr3:53080122-53080131
14	CEBPB	chr3:53084039-53084293	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr3:53084000-53084311	HepG2	liver:	n/a	n/a
16	CEBPB	chr3:53084050-53084271	HepG2	liver:	n/a	n/a
17	CEBPB	chr3:53084000-53084381	HepG2	liver:	n/a	n/a
18	CEBPD	chr3:53082863-53083128	K562	blood:	n/a	n/a
19	CEBPD	chr3:53079891-53080235	HepG2	liver:	n/a	n/a
20	CEBPD	chr3:53079153-53079403	HepG2	liver:	n/a	n/a
21	CEBPD	chr3:53082869-53083135	K562	blood:	n/a	n/a
22	CHD1	chr3:53079807-53080192	GM12878	blood:	n/a	chr3:53080160-53080170
23	CHD1	chr3:53080449-53080979	GM12878	blood:	n/a	n/a
24	CHD1	chr3:53080619-53080659	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD1	chr3:53079000-53079253	GM12878	blood:	n/a	n/a
26	CHD2	chr3:53079835-53080238	K562	blood:	n/a	chr3:53080160-53080170
27	CHD2	chr3:53080423-53081123	GM12878	blood:	n/a	n/a
28	CHD2	chr3:53079844-53080219	Hela-S3	cervix:	n/a	chr3:53080160-53080170
29	CHD2	chr3:53080493-53080969	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr3:53079807-53080211	GM12878	blood:	n/a	chr3:53080160-53080170
31	CHD2	chr3:53079452-53079597	Hela-S3	cervix:	n/a	n/a
32	CREB1	chr3:53079009-53079348	A549	lung:	n/a	n/a
33	CREB1	chr3:53080497-53081113	A549	lung:	n/a	n/a
34	CREB1	chr3:53079985-53080258	A549	lung:	n/a	n/a
35	CREB1	chr3:53079608-53080444	HepG2	liver:	n/a	n/a
36	CTBP2	chr3:53080311-53081173	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr3:53080680-53080830	AoAF	blood vessel:	n/a	n/a
38	CTCF	chr3:53080640-53080790	A549	lung:	n/a	n/a
39	CTCF	chr3:53080129-53080148	GM19240	blood:	n/a	n/a
40	CTCF	chr3:53080700-53080850	GM06990	blood:	n/a	n/a
41	CTCF	chr3:53080700-53080850	NHLF	lung:	n/a	n/a
42	CTCF	chr3:53080620-53080770	GM12866	blood:	n/a	n/a
43	CTCF	chr3:53079449-53079541	MCF-7	breast:	n/a	n/a
44	CTCF	chr3:53086072-53086232	MCF-7	breast:	n/a	chr3:53086174-53086183
45	CTCF	chr3:53079408-53079563	GM19240	blood:	n/a	n/a
46	CTCF	chr3:53080720-53080870	BJ	skin:	n/a	n/a
47	CTCF	chr3:53080660-53080810	GM12873	blood:	n/a	n/a
48	CTCF	chr3:53079400-53079550	GM12865	blood:	n/a	n/a
49	CTCF	chr3:53080569-53080816	K562	blood:	n/a	n/a
50	CTCF	chr3:53080574-53080934	IMR90	lung:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:53080440-53080490	Hela-S3	cervix:	n/a
2	chr3:53079796-53079846	Jurkat	blood:	n/a
3	chr3:53080682-53080732	ECC-1	luminal epithelium:	n/a
4	chr3:53079796-53079846	PANC-1	pancreas:	n/a
5	chr3:53084209-53084259	Hela-S3	cervix:	n/a
6	chr3:53080682-53080732	GM19239	blood:	n/a
7	chr3:53079105-53079155	T-47D	breast:	n/a
8	chr3:53079796-53079846	AoSMC	blood vessel:	n/a
9	chr3:53079796-53079846	CMK	blood:	n/a
10	chr3:53080682-53080732	HMEC	breast:	n/a
11	chr3:53080682-53080732	K562	blood:	n/a
12	chr3:53079105-53079155	HUVEC	blood vessel:	n/a
13	chr3:53080176-53080226	A549	lung:	n/a
14	chr3:53084209-53084259	AG10803	skin:	n/a
15	chr3:53080440-53080490	PANC-1	pancreas:	n/a
16	chr3:53084209-53084259	NHBE	bronchial:	n/a
17	chr3:53080440-53080490	HRE	kidney:	n/a
18	chr3:53080682-53080732	AG10803	skin:	n/a
19	chr3:53080176-53080226	GM12891	blood:	n/a
20	chr3:53080176-53080226	HCT-116	colon:	n/a
21	chr3:53079105-53079155	AG04449	skin:	fetal
22	chr3:53079796-53079846	GM19239	blood:	n/a
23	chr3:53079796-53079846	HNPCEpiC	eye:	n/a
24	chr3:53080176-53080226	BJ	skin:	n/a
25	chr3:53080176-53080226	NT2-D1	testis:	n/a
26	chr3:53079796-53079846	HEEpiC	esophagus:	n/a
27	chr3:53084209-53084259	HAEpiC	amniotic membrane:	n/a
28	chr3:53084209-53084259	NB4	blood:	n/a
29	chr3:53079796-53079846	HCM	heart:	n/a
30	chr3:53084209-53084259	K562	blood:	n/a
31	chr3:53079105-53079155	HCT-116	colon:	n/a
32	chr3:53080176-53080226	NB4	blood:	n/a
33	chr3:53084209-53084259	PFSK-1	brain:	n/a
34	chr3:53084209-53084259	HPAEpiC	pulmonary alveolar:	n/a
35	chr3:53079796-53079846	IMR90	lung:	fetal
36	chr3:53079796-53079846	PrEC	prostate:	n/a
37	chr3:53080176-53080226	HUVEC	blood vessel:	n/a
38	chr3:53084209-53084259	CMK	blood:	n/a
39	chr3:53079796-53079846	Caco-2	colon:	n/a
40	chr3:53080682-53080732	HAEpiC	amniotic membrane:	n/a
41	chr3:53079796-53079846	K562	blood:	n/a
42	chr3:53080176-53080226	SK-N-SH	brain:	n/a
43	chr3:53080682-53080732	HEK293	kidney:	embryo
44	chr3:53079105-53079155	SAEC	small airway:	n/a
45	chr3:53080682-53080732	BJ	skin:	n/a
46	chr3:53080682-53080732	NT2-D1	testis:	n/a
47	chr3:53079105-53079155	GM12892	blood:	n/a
48	chr3:53080682-53080732	Caco-2	colon:	n/a
49	chr3:53080682-53080732	NH-A	brain:	n/a
50	chr3:53080682-53080732	AG09309	skin:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:52973930..52976171-chr3:53081053..53083269,2	MCF-7	breast:
2	chr3:53078502..53082899-chr3:53088396..53093067,6	K562	blood:
3	chr3:52888069..52891024-chr3:53081330..53083131,2	K562	blood:
4	chr20:33999620..34000214-chr3:53080089..53080662,2	Hela-S3	cervix:
5	chr3:53079254..53081173-chr3:53081236..53082757,2	MCF-7	breast:
6	chr3:53077653..53079153-chr3:53079208..53080925,2	K562	blood:
7	chr3:53085682..53086543-chr3:53106733..53107482,2	MCF-7	breast:
8	chr19:46273919..46274424-chr3:53078893..53079893,2	Hela-S3	cervix:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RFT1-5	chr3:53079832-53080073	NONHSAT089976
2	lnc-RFT1-5	chr3:53080476-53080766	NONHSAT089975
3	lnc-PRKCD-2	chr3:53080091-53082182	NONHSAT089977

No data

Variant related genes	Relation type
ENSG00000266635	TF binding region
SFMBT1	TF binding region
ENSG00000266635	CpG island
SFMBT1	CpG island
ENSG00000163935	chromatin interactions
ENSG00000101019	chromatin interactions
ENSG00000267395	chromatin interactions

Extended variants
information (count: 293 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144110665	chr3:53079084-53079085	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs547627584	chr3:53079097-53079098	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs77313712	chr3:53079120-53079121	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs116211523	chr3:53079125-53079126	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs548991774	chr3:53079145-53079146	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs568498260	chr3:53079175-53079176	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs528071162	chr3:53079221-53079222	Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs557430701	chr3:53079296-53079297	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs112219780	chr3:53079306-53079307	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs112661572	chr3:53079441-53079442	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs572148840	chr3:53079698-53079699	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs6808387	chr3:53079732-53079733	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs533749305	chr3:53079796-53079797	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs553654614	chr3:53079908-53079909	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs185075398	chr3:53079927-53079928	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs548907735	chr3:53079934-53079935	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs111501878	chr3:53080020-53080021	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs111290679	chr3:53080021-53080022	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs573897625	chr3:53080055-53080056	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs542533582	chr3:53080067-53080068	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs148697261	chr3:53080125-53080126	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs142052001	chr3:53080137-53080138	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs2564941	chr3:53080148-53080149	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs527745361	chr3:53080203-53080204	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs541627963	chr3:53080204-53080205	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs200910296	chr3:53080252-53080253	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs146676997	chr3:53080281-53080282	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs376079802	chr3:53080308-53080309	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs530459747	chr3:53080328-53080329	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs562214812	chr3:53080362-53080363	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs139195126	chr3:53080374-53080375	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs562193061	chr3:53080383-53080384	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs529435408	chr3:53080502-53080503	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs547598231	chr3:53080503-53080504	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs565965336	chr3:53080507-53080508	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs531211710	chr3:53080537-53080538	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs3821872	chr3:53080555-53080556	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs571028949	chr3:53080581-53080582	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs376081469	chr3:53080582-53080583	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs117010781	chr3:53080605-53080606	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs547594816	chr3:53080608-53080609	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs567331512	chr3:53080610-53080611	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs551700161	chr3:53080650-53080651	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs188228007	chr3:53080680-53080681	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs569270493	chr3:53080682-53080683	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs556493621	chr3:53080689-53080690	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs1118210	chr3:53080697-53080698	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs192442980	chr3:53080727-53080728	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs537056017	chr3:53080733-53080734	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs539043669	chr3:53080743-53080744	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
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
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
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
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Lung cancer	16618734	CNVD
Neuroblastoma	19686582	CNVD
Renal cell carcinoma	18765545	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53077800-53080800	Active TSS	Right Atrium	heart
2	chr3:53078000-53081200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:53078200-53080200	Active TSS	Colonic Mucosa	Colon
4	chr3:53078200-53080800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr3:53078200-53080800	Active TSS	Small Intestine	intestine
6	chr3:53078200-53081200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr3:53078400-53079200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr3:53078400-53079200	Flanking Active TSS	Hela-S3	cervix
9	chr3:53078400-53079800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:53078400-53079800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:53078400-53080200	Active TSS	Right Ventricle	heart
12	chr3:53078400-53080600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr3:53078400-53080600	Active TSS	Placenta	Placenta
14	chr3:53078400-53080600	Active TSS	Pancreas	Pancrea
15	chr3:53078400-53080800	Active TSS	Esophagus	oesophagus
16	chr3:53078400-53081200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr3:53078400-53081200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:53078400-53081200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr3:53078600-53079200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr3:53078600-53079200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr3:53078600-53079200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:53078600-53079800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:53078600-53079800	Active TSS	Fetal Muscle Leg	muscle
24	chr3:53078600-53080200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:53078600-53080200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr3:53078600-53080400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:53078600-53080400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr3:53078600-53080400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr3:53078600-53080400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr3:53078600-53080400	Active TSS	Gastric	stomach
31	chr3:53078600-53080400	Active TSS	Left Ventricle	heart
32	chr3:53078600-53080400	Active TSS	GM12878-XiMat	blood
33	chr3:53078600-53080600	Active TSS	Brain Hippocampus Middle	brain
34	chr3:53078600-53080600	Active TSS	Placenta Amnion	Placenta Amnion
35	chr3:53078600-53080600	Active TSS	Psoas Muscle	Psoas
36	chr3:53078600-53080800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr3:53078600-53080800	Active TSS	Brain Cingulate Gyrus	brain
38	chr3:53078600-53080800	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr3:53078600-53080800	Active TSS	Fetal Intestine Small	intestine
40	chr3:53078600-53080800	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr3:53078600-53080800	Active TSS	HSMMtube	muscle
42	chr3:53078600-53081000	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr3:53078600-53081000	Active TSS	Aorta	Aorta
44	chr3:53078600-53081000	Active TSS	Colon Smooth Muscle	Colon
45	chr3:53078600-53081000	Active TSS	Ovary	ovary
46	chr3:53078600-53081200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr3:53078600-53081200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr3:53078600-53081200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr3:53078600-53081200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr3:53078600-53081200	Active TSS	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links