Variant report

Variant	nsv549908
Chromosome Location	chr10:6018225-6021547
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:6019794-6019867	K562	blood:	n/a	n/a
2	ATF2	chr10:6017796-6018336	GM12878	blood:	n/a	n/a
3	ATF2	chr10:6017736-6018370	GM12878	blood:	n/a	n/a
4	ATF3	chr10:6019368-6019831	K562	blood:	n/a	n/a
5	BACH1	chr10:6019541-6020062	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr10:6018595-6018754	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr10:6018987-6019236	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr10:6017802-6018339	GM12878	blood:	n/a	n/a
9	BCL11A	chr10:6017831-6018249	GM12878	blood:	n/a	chr10:6018056-6018065 chr10:6018175-6018184
10	BCL3	chr10:6017819-6018303	GM12878	blood:	n/a	chr10:6018056-6018065 chr10:6018175-6018184
11	BCL3	chr10:6017974-6018293	GM12878	blood:	n/a	chr10:6018056-6018065 chr10:6018175-6018184
12	BCLAF1	chr10:6019627-6020252	GM12878	blood:	n/a	chr10:6019666-6019675 chr10:6019657-6019670 chr10:6019667-6019680 chr10:6019657-6019670 chr10:6019949-6019958 chr10:6019661-6019674 chr10:6020188-6020197
13	BCLAF1	chr10:6017782-6018403	GM12878	blood:	n/a	chr10:6018056-6018065 chr10:6018175-6018184
14	BCLAF1	chr10:6017797-6018337	GM12878	blood:	n/a	chr10:6018056-6018065 chr10:6018175-6018184
15	BHLHE40	chr10:6019027-6019301	HepG2	liver:	n/a	chr10:6019144-6019160
16	BHLHE40	chr10:6018800-6020072	K562	blood:	n/a	chr10:6019144-6019160 chr10:6019658-6019674
17	BHLHE40	chr10:6017891-6018459	GM12878	blood:	n/a	n/a
18	BHLHE40	chr10:6018883-6020214	GM12878	blood:	n/a	chr10:6019144-6019160 chr10:6019658-6019674 chr10:6020067-6020083
19	BRCA1	chr10:6019805-6019918	Hela-S3	cervix:	n/a	n/a
20	CBX3	chr10:6019409-6019929	K562	blood:	n/a	n/a
21	CBX3	chr10:6018791-6019236	K562	blood:	n/a	n/a
22	CCNT2	chr10:6018906-6020211	K562	blood:	n/a	chr10:6019634-6019643
23	CEBPB	chr10:6017887-6018245	MCF-7	breast:	n/a	chr10:6018066-6018077 chr10:6018067-6018078 chr10:6018068-6018077
24	CEBPB	chr10:6017894-6018250	K562	blood:	n/a	chr10:6018066-6018077 chr10:6018067-6018078 chr10:6018068-6018077
25	CEBPB	chr10:6017717-6018439	GM12878	blood:	n/a	chr10:6018066-6018077 chr10:6018067-6018078 chr10:6018068-6018077
26	CEBPB	chr10:6017878-6018233	K562	blood:	n/a	chr10:6018066-6018077 chr10:6018067-6018078 chr10:6018068-6018077
27	CEBPB	chr10:6017884-6018250	IMR90	lung:	n/a	chr10:6018066-6018077 chr10:6018067-6018078 chr10:6018068-6018077
28	CEBPB	chr10:6017880-6018472	Hela-S3	cervix:	n/a	chr10:6018066-6018077 chr10:6018067-6018078 chr10:6018068-6018077
29	CEBPB	chr10:6017931-6018243	HepG2	liver:	n/a	chr10:6018066-6018077 chr10:6018067-6018078 chr10:6018068-6018077
30	CEBPB	chr10:6018811-6019156	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr10:6019521-6020094	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr10:6017927-6018235	GM12878	blood:	n/a	chr10:6018066-6018077 chr10:6018067-6018078 chr10:6018068-6018077
33	CHD1	chr10:6019645-6020161	GM12878	blood:	n/a	n/a
34	CHD1	chr10:6018918-6019100	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD1	chr10:6018570-6019199	GM12878	blood:	n/a	n/a
36	CHD1	chr10:6019606-6020087	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD2	chr10:6019421-6020118	GM12878	blood:	n/a	chr10:6019510-6019520
38	CHD2	chr10:6019615-6019982	K562	blood:	n/a	n/a
39	CHD2	chr10:6019842-6020015	HepG2	liver:	n/a	n/a
40	CHD2	chr10:6018859-6019298	K562	blood:	n/a	n/a
41	CHD2	chr10:6018616-6020252	Hela-S3	cervix:	n/a	chr10:6019510-6019520
42	CHD2	chr10:6017914-6018318	GM12878	blood:	n/a	n/a
43	CHD2	chr10:6018573-6019021	GM12878	blood:	n/a	n/a
44	CREB1	chr10:6017770-6018400	GM12878	blood:	n/a	n/a
45	CTBP2	chr10:6018739-6020287	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr10:6019158-6019346	GM12891	blood:	n/a	n/a
47	CTCF	chr10:6020000-6020071	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr10:6019200-6019350	GM12871	blood:	n/a	n/a
49	CTCF	chr10:6020000-6020150	HMEC	breast:	n/a	chr10:6020076-6020084 chr10:6020070-6020086 chr10:6020071-6020084 chr10:6020064-6020085
50	CTCF	chr10:6019940-6020090	GM12872	blood:	n/a	chr10:6020076-6020084 chr10:6020070-6020086 chr10:6020071-6020084 chr10:6020064-6020085

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:6020009-6020059	NHBE	bronchial:	n/a
2	chr10:6020009-6020059	NHBE	bronchial:	n/a
3	chr10:6020387-6020437	IMR90	lung:	fetal
4	chr10:6019621-6019671	Jurkat	blood:	n/a
5	chr10:6019526-6019576	GM19239	blood:	n/a
6	chr10:6020387-6020437	HEK293	kidney:	embryo
7	chr10:6020369-6020419	HPAEpiC	pulmonary alveolar:	n/a
8	chr10:6020369-6020419	HIPEpiC	eye:	n/a
9	chr10:6020387-6020437	HPAEpiC	pulmonary alveolar:	n/a
10	chr10:6018955-6019005	NHBE	bronchial:	n/a
11	chr10:6020369-6020419	RPTEC	kidney:	n/a
12	chr10:6018610-6018660	BJ	skin:	n/a
13	chr10:6019621-6019671	AG04450	lung:	fetal
14	chr10:6020330-6020380	HMEC	breast:	n/a
15	chr10:6020009-6020059	NB4	blood:	n/a
16	chr10:6019526-6019576	HRCEpiC	kidney:	n/a
17	chr10:6019609-6019659	Jurkat	blood:	n/a
18	chr10:6020009-6020059	CMK	blood:	n/a
19	chr10:6020369-6020419	HEK293	kidney:	embryo
20	chr10:6020369-6020419	Hela-S3	cervix:	n/a
21	chr10:6018955-6019005	Caco-2	colon:	n/a
22	chr10:6020369-6020419	PrEC	prostate:	n/a
23	chr10:6019609-6019659	SAEC	small airway:	n/a
24	chr10:6018955-6019005	ProgFib	skin:	n/a
25	chr10:6020369-6020419	AG10803	skin:	n/a
26	chr10:6019877-6019927	HMEC	breast:	n/a
27	chr10:6020387-6020437	HRCEpiC	kidney:	n/a
28	chr10:6019877-6019927	RPTEC	kidney:	n/a
29	chr10:6020369-6020419	ovcar-3	ovarian:	n/a
30	chr10:6020009-6020059	LNCaP	prostate:	n/a
31	chr10:6018955-6019005	PANC-1	pancreas:	n/a
32	chr10:6020330-6020380	PrEC	prostate:	n/a
33	chr10:6018610-6018660	HNPCEpiC	eye:	n/a
34	chr10:6019609-6019659	GM06990	blood:	n/a
35	chr10:6020585-6020635	HEK293	kidney:	embryo
36	chr10:6020009-6020059	T-47D	breast:	n/a
37	chr10:6019526-6019576	AoSMC	blood vessel:	n/a
38	chr10:6020585-6020635	HIPEpiC	eye:	n/a
39	chr10:6020330-6020380	HRCEpiC	kidney:	n/a
40	chr10:6020585-6020635	PrEC	prostate:	n/a
41	chr10:6020387-6020437	ProgFib	skin:	n/a
42	chr10:6020585-6020635	HCPEpiC	choroid plexus:	n/a
43	chr10:6019609-6019659	GM19239	blood:	n/a
44	chr10:6019526-6019576	HL-60	blood:	n/a
45	chr10:6020009-6020059	HRE	kidney:	n/a
46	chr10:6019609-6019659	H1-hESC	embryonic stem cell:	embryo
47	chr10:6019526-6019576	ovcar-3	ovarian:	n/a
48	chr10:6020369-6020419	HEEpiC	esophagus:	n/a
49	chr10:6018610-6018660	AG04450	lung:	fetal
50	chr10:6018610-6018660	CMK	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:5987354..5989797-chr10:6018047..6020538,2	MCF-7	breast:
2	chr10:6020440..6022335-chr10:6023498..6026826,3	MCF-7	breast:
3	chr10:5931810..5933817-chr10:6018457..6020176,2	MCF-7	breast:
4	chr10:6018064..6019912-chr10:6129955..6132156,2	K562	blood:
5	chr10:5853517..5856397-chr10:6017987..6020051,2	MCF-7	breast:
6	chr10:6019647..6020148-chr10:6130484..6131213,2	MCF-7	breast:
7	chr10:6018551..6021640-chr10:6130714..6134315,5	MCF-7	breast:
8	chr10:6018064..6021783-chr10:6129304..6132316,4	K562	blood:
9	chr10:6018278..6019533-chr10:6130531..6131243,3	MCF-7	breast:
10	chr10:6003571..6011080-chr10:6014794..6021269,11	K562	blood:
11	chr10:5929157..5931311-chr10:6018059..6019673,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXO18-2	chr10:6019377-6021681	NONHSAT011200
2	lnc-IL15RA-2	chr10:6019740-6020150	NONHSAT011198
3	lnc-IL15RA-2	chr10:6019740-6020150	NONHSAT011197
4	lnc-IL15RA-2	chr10:6019740-6020001	NONHSAT011199

Variant related genes	Relation type
IL15RA	TF binding region
IL15RA	CpG island
ENSG00000232807	chromatin interactions
ENSG00000134470	chromatin interactions
ENSG00000134452	chromatin interactions
ENSG00000134461	chromatin interactions
ENSG00000272764	chromatin interactions
ENSG00000134453	chromatin interactions
ENSG00000057608	chromatin interactions

Extended variants
information (count: 122 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8177766	chr10:6018225-6018226	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540743683	chr10:6018246-6018247	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs7076858	chr10:6018248-6018249	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs113528342	chr10:6018274-6018275	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs138276366	chr10:6018295-6018296	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs186914018	chr10:6018317-6018318	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs192439456	chr10:6018372-6018373	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs376249838	chr10:6018400-6018401	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs531137384	chr10:6018404-6018405	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs149472015	chr10:6018410-6018411	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs539995121	chr10:6018417-6018418	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs8177765	chr10:6018498-6018499	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs528705496	chr10:6018503-6018504	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs546649821	chr10:6018555-6018556	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs568257787	chr10:6018578-6018579	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs8177764	chr10:6018582-6018583	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs8177636	chr10:6018594-6018595	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs550589825	chr10:6018655-6018656	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs143982235	chr10:6018669-6018670	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs8177635	chr10:6018676-6018677	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs558837590	chr10:6018683-6018684	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs576919914	chr10:6018697-6018698	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs8177634	chr10:6018724-6018725	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs201893026	chr10:6018754-6018755	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs534818740	chr10:6018768-6018769	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs556073666	chr10:6018801-6018802	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs553093489	chr10:6018849-6018850	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs4749856	chr10:6018880-6018881	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs541821669	chr10:6018933-6018934	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs36055263	chr10:6018970-6018971	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs373972052	chr10:6019000-6019001	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs8177633	chr10:6019015-6019016	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs546150725	chr10:6019019-6019020	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs11256192	chr10:6019041-6019042	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs528669893	chr10:6019057-6019058	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs546837352	chr10:6019117-6019118	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs561825517	chr10:6019176-6019177	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs2274035	chr10:6019180-6019181	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs8177632	chr10:6019190-6019191	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs113162109	chr10:6019193-6019194	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs2274034	chr10:6019248-6019249	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs539825103	chr10:6019266-6019267	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs552144666	chr10:6019271-6019272	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs8177631	chr10:6019279-6019280	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs534806019	chr10:6019296-6019297	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs553230426	chr10:6019297-6019298	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs568145524	chr10:6019301-6019302	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs535507050	chr10:6019450-6019451	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
49	rs8177763	chr10:6019546-6019547	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
50	rs8177630	chr10:6019631-6019632	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Ovarian cancer	22355333	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:362 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5986200-6018600	Weak transcription	Aorta	Aorta
2	chr10:6017400-6018400	Flanking Active TSS	Duodenum Mucosa	Duodenum
3	chr10:6017400-6018800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
4	chr10:6017400-6019200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr10:6017600-6018400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr10:6017600-6018600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr10:6017600-6018800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr10:6017600-6020800	Active TSS	Colonic Mucosa	Colon
9	chr10:6017800-6018400	Enhancers	Placenta	Placenta
10	chr10:6017800-6018600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr10:6017800-6018800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr10:6017800-6018800	Flanking Active TSS	Primary B cells from peripheral blood	blood
13	chr10:6017800-6018800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr10:6017800-6018800	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr10:6017800-6018800	Flanking Active TSS	HUVEC	blood vessel
16	chr10:6017800-6019200	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr10:6017800-6020200	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr10:6017800-6020400	Active TSS	Brain Anterior Caudate	brain
19	chr10:6017800-6020400	Active TSS	NHDF-Ad	bronchial
20	chr10:6017800-6020800	Active TSS	Lung	lung
21	chr10:6017800-6020800	Active TSS	Rectal Smooth Muscle	rectum
22	chr10:6017800-6021000	Active TSS	Right Atrium	heart
23	chr10:6018000-6018400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
24	chr10:6018000-6018400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
25	chr10:6018000-6018400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr10:6018000-6018400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr10:6018000-6018400	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr10:6018000-6018400	Flanking Active TSS	Pancreas	Pancrea
29	chr10:6018000-6018400	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr10:6018000-6018400	Active TSS	NHLF	lung
31	chr10:6018000-6018600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr10:6018000-6018600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr10:6018000-6018600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr10:6018000-6018600	Bivalent Enhancer	Fetal Stomach	stomach
35	chr10:6018000-6018600	Flanking Active TSS	Hela-S3	cervix
36	chr10:6018000-6018800	Flanking Active TSS	Thymus	Thymus
37	chr10:6018000-6019000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr10:6018000-6019000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr10:6018000-6019200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr10:6018000-6020200	Active TSS	Primary monocytes fromperipheralblood	blood
41	chr10:6018000-6020200	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr10:6018000-6020200	Active TSS	Stomach Mucosa	stomach
43	chr10:6018000-6020200	Active TSS	Osteobl	bone
44	chr10:6018000-6020400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr10:6018000-6020400	Active TSS	Brain Cingulate Gyrus	brain
46	chr10:6018000-6020400	Active TSS	Brain Hippocampus Middle	brain
47	chr10:6018000-6020400	Active TSS	Small Intestine	intestine
48	chr10:6018000-6020400	Active TSS	GM12878-XiMat	blood
49	chr10:6018000-6020600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr10:6018000-6020600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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