Variant report

Variant	esv3327000
Chromosome Location	chr10:43571771-43574319
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	CTCF	chr10:43571860-43572010	HFF	foreskin:	n/a	chr10:43571958-43571971 chr10:43571942-43571955
2	CTCF	chr10:43571900-43572050	SK-N-SH_RA	brain:	n/a	chr10:43571958-43571971 chr10:43571942-43571955
3	CTCF	chr10:43574304-43574760	HCT-116	colon:	n/a	chr10:43574535-43574553 chr10:43574530-43574551 chr10:43574537-43574550 chr10:43574536-43574552
4	CTCF	chr10:43574305-43574718	HepG2	liver:	n/a	chr10:43574535-43574553 chr10:43574530-43574551 chr10:43574537-43574550 chr10:43574536-43574552
5	CTCF	chr10:43571860-43572010	NHEK	skin:	n/a	chr10:43571958-43571971 chr10:43571942-43571955
6	CTCF	chr10:43571880-43572030	HUVEC	blood vessel:	n/a	chr10:43571958-43571971 chr10:43571942-43571955
7	CTCF	chr10:43571920-43572070	HL-60	blood:	n/a	chr10:43571958-43571971 chr10:43571942-43571955
8	CTCF	chr10:43574207-43574807	K562	blood:	n/a	chr10:43574535-43574553 chr10:43574530-43574551 chr10:43574537-43574550 chr10:43574536-43574552
9	CTCF	chr10:43572000-43572150	BE2_C	brain:	n/a	n/a
10	CTCF	chr10:43571820-43571970	GM12864	blood:	n/a	chr10:43571942-43571955
11	CTCF	chr10:43572097-43572099	MCF-7	breast:	n/a	n/a
12	CTCF	chr10:43572500-43572650	SK-N-SH_RA	brain:	n/a	n/a
13	CTCF	chr10:43571908-43572051	MCF-7	breast:	n/a	chr10:43571958-43571971 chr10:43571942-43571955
14	CTCF	chr10:43574160-43574310	GM12870	blood:	n/a	n/a
15	CTCF	chr10:43573840-43573990	BE2_C	brain:	n/a	n/a
16	CTCF	chr10:43574280-43574764	H1-hESC	embryonic stem cell:	n/a	chr10:43574535-43574553 chr10:43574530-43574551 chr10:43574537-43574550 chr10:43574536-43574552
17	CTCF	chr10:43571860-43572010	HCM	heart:	n/a	chr10:43571958-43571971 chr10:43571942-43571955
18	CTCF	chr10:43571898-43572035	NHEK	skin:	n/a	chr10:43571958-43571971 chr10:43571942-43571955
19	CTCF	chr10:43571860-43572010	HEK293	kidney:	n/a	chr10:43571958-43571971 chr10:43571942-43571955
20	CTCF	chr10:43571920-43572070	WERI-Rb-1	eye:	n/a	chr10:43571958-43571971 chr10:43571942-43571955
21	CTCF	chr10:43571640-43571790	A549	lung:	n/a	n/a
22	CTCF	chr10:43571916-43572036	MCF-7	breast:	n/a	chr10:43571958-43571971 chr10:43571942-43571955
23	CTCF	chr10:43571886-43572056	MCF-7	breast:	n/a	chr10:43571958-43571971 chr10:43571942-43571955
24	CTCF	chr10:43572719-43572729	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr10:43572553-43572602	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr10:43572537-43572616	MCF-7	breast:	n/a	n/a
27	CTCF	chr10:43574060-43574210	GM12865	blood:	n/a	n/a
28	CTCF	chr10:43574040-43574190	HCM	heart:	n/a	n/a
29	CTCF	chr10:43574153-43574798	A549	lung:	n/a	chr10:43574535-43574553 chr10:43574530-43574551 chr10:43574537-43574550 chr10:43574536-43574552
30	CTCF	chr10:43571820-43571970	BE2_C	brain:	n/a	chr10:43571942-43571955
31	CTCF	chr10:43573632-43574993	SK-N-SH	brain:	n/a	chr10:43574824-43574832 chr10:43574535-43574553 chr10:43574530-43574551 chr10:43574537-43574550 chr10:43574536-43574552
32	CTCF	chr10:43573800-43573950	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr10:43571952-43571969	GM12891	blood:	n/a	n/a
34	CTCF	chr10:43571780-43571930	HCPEpiC	choroid plexus:	n/a	n/a
35	CTCF	chr10:43571860-43572010	HMEC	breast:	n/a	chr10:43571958-43571971 chr10:43571942-43571955
36	CTCF	chr10:43572496-43572610	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr10:43571840-43571990	A549	lung:	n/a	chr10:43571958-43571971 chr10:43571942-43571955
38	CTCF	chr10:43571900-43572050	BJ	skin:	n/a	chr10:43571958-43571971 chr10:43571942-43571955
39	CTCF	chr10:43571900-43572050	Caco-2	colon:	n/a	chr10:43571958-43571971 chr10:43571942-43571955
40	CTCF	chr10:43574171-43574863	MCF-7	breast:	n/a	chr10:43574824-43574832 chr10:43574535-43574553 chr10:43574530-43574551 chr10:43574537-43574550 chr10:43574536-43574552
41	CTCF	chr10:43571902-43572096	MCF-7	breast:	n/a	chr10:43571958-43571971 chr10:43571942-43571955
42	CTCF	chr10:43572480-43572630	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr10:43571800-43571950	MCF-7	breast:	n/a	n/a
44	CTCF	chr10:43574260-43574410	A549	lung:	n/a	n/a
45	CTCF	chr10:43574273-43574964	HCT-116	colon:	n/a	chr10:43574824-43574832 chr10:43574535-43574553 chr10:43574530-43574551 chr10:43574537-43574550 chr10:43574536-43574552
46	CTCF	chr10:43573920-43574070	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr10:43571820-43571970	NB4	blood:	n/a	chr10:43571942-43571955
48	E2F6	chr10:43572454-43572630	K562	blood:	n/a	chr10:43572494-43572504
49	E2F6	chr10:43573066-43573704	H1-hESC	embryonic stem cell:	n/a	chr10:43573225-43573232 chr10:43573220-43573235 chr10:43573225-43573232 chr10:43573088-43573095 chr10:43573326-43573334 chr10:43573225-43573232
50	E2F6	chr10:43573023-43573508	H1-hESC	embryonic stem cell:	n/a	chr10:43573225-43573232 chr10:43573220-43573235 chr10:43573225-43573232 chr10:43573088-43573095 chr10:43573326-43573334 chr10:43573225-43573232

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:43572359-43572409	T-47D	breast:	n/a
2	chr10:43573332-43573382	HMEC	breast:	n/a
3	chr10:43572359-43572409	AoSMC	blood vessel:	n/a
4	chr10:43572244-43572294	GM19239	blood:	n/a
5	chr10:43572467-43572517	HepG2	liver:	n/a
6	chr10:43572424-43572474	AoSMC	blood vessel:	n/a
7	chr10:43573319-43573369	SK-N-SH	brain:	n/a
8	chr10:43573332-43573382	NT2-D1	testis:	n/a
9	chr10:43572621-43572671	PANC-1	pancreas:	n/a
10	chr10:43572430-43572480	SKMC	muscle:	n/a
11	chr10:43572424-43572474	H1-hESC	embryonic stem cell:	embryo
12	chr10:43573332-43573382	HepG2	liver:	n/a
13	chr10:43572359-43572409	ECC-1	luminal epithelium:	n/a
14	chr10:43573319-43573369	U87	brain:	n/a
15	chr10:43572065-43572115	HRE	kidney:	n/a
16	chr10:43573332-43573382	HRE	kidney:	n/a
17	chr10:43572359-43572409	LNCaP	prostate:	n/a
18	chr10:43572413-43572463	ProgFib	skin:	n/a
19	chr10:43572065-43572115	A549	lung:	n/a
20	chr10:43572621-43572671	SK-N-MC	brain:	n/a
21	chr10:43572424-43572474	GM12891	blood:	n/a
22	chr10:43572244-43572294	SKMC	muscle:	n/a
23	chr10:43573332-43573382	NHBE	bronchial:	n/a
24	chr10:43572359-43572409	ovcar-3	ovarian:	n/a
25	chr10:43572244-43572294	A549	lung:	n/a
26	chr10:43572244-43572294	AG04449	skin:	fetal
27	chr10:43573332-43573382	AG09309	skin:	n/a
28	chr10:43572795-43572845	AG09309	skin:	n/a
29	chr10:43572467-43572517	HIPEpiC	eye:	n/a
30	chr10:43572795-43572845	HNPCEpiC	eye:	n/a
31	chr10:43573195-43573245	ovcar-3	ovarian:	n/a
32	chr10:43572359-43572409	Jurkat	blood:	n/a
33	chr10:43572621-43572671	ovcar-3	ovarian:	n/a
34	chr10:43572244-43572294	GM12878	blood:	n/a
35	chr10:43573195-43573245	Jurkat	blood:	n/a
36	chr10:43573332-43573382	HIPEpiC	eye:	n/a
37	chr10:43573195-43573245	U87	brain:	n/a
38	chr10:43572430-43572480	PrEC	prostate:	n/a
39	chr10:43573195-43573245	HUVEC	blood vessel:	n/a
40	chr10:43573332-43573382	ECC-1	luminal epithelium:	n/a
41	chr10:43573319-43573369	ProgFib	skin:	n/a
42	chr10:43572467-43572517	ProgFib	skin:	n/a
43	chr10:43572413-43572463	SK-N-SH_RA	brain:	n/a
44	chr10:43572430-43572480	ovcar-3	ovarian:	n/a
45	chr10:43572413-43572463	HEEpiC	esophagus:	n/a
46	chr10:43573195-43573245	NHDF-neo	bronchial:	n/a
47	chr10:43572430-43572480	HCF	heart:	n/a
48	chr10:43572795-43572845	HEK293	kidney:	embryo
49	chr10:43572413-43572463	HRPEpiC	eye:	n/a
50	chr10:43572244-43572294	AG09309	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:43362412..43363000-chr10:43573894..43574641,2	MCF-7	breast:
2	chr10:43361782..43362789-chr10:43574108..43574983,3	K562	blood:
3	chr10:43470988..43471723-chr10:43574194..43574824,2	MCF-7	breast:
4	chr10:43322775..43323340-chr10:43574006..43574597,2	MCF-7	breast:
5	chr10:43363801..43367756-chr10:43571423..43575718,4	MCF-7	breast:
6	chr10:43517701..43518324-chr10:43573585..43574127,2	MCF-7	breast:
7	chr10:43572567..43574576-chr10:43871912..43874300,2	MCF-7	breast:
8	chr10:43361921..43363073-chr10:43574052..43574909,5	MCF-7	breast:

Variant related genes	Relation type
RET	TF binding region
RET	CpG island
ENSG00000234944	chromatin interactions

Extended variants
information (count: 86 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186679185	chr10:43571820-43571821	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs569865826	chr10:43571844-43571845	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs536862565	chr10:43571941-43571942	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs2435366	chr10:43571988-43571989	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs567224259	chr10:43571989-43571990	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs534562399	chr10:43572116-43572117	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs553369950	chr10:43572123-43572124	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs3097561	chr10:43572180-43572181	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs369151949	chr10:43572203-43572204	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs545520300	chr10:43572253-43572254	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs557192310	chr10:43572265-43572266	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs555584951	chr10:43572274-43572275	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs115549558	chr10:43572296-43572297	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs576067603	chr10:43572319-43572320	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs561429312	chr10:43572404-43572405	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs373100342	chr10:43572414-43572415	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs528835015	chr10:43572426-43572427	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs370153745	chr10:43572470-43572471	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs386134265	chr10:43572477-43572478	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs540926474	chr10:43572481-43572482	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs373375997	chr10:43572485-43572486	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs559327425	chr10:43572491-43572492	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs532775686	chr10:43572500-43572501	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs551321384	chr10:43572506-43572507	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs10900296	chr10:43572507-43572508	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs10900297	chr10:43572511-43572512	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs112715174	chr10:43572523-43572524	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs548774475	chr10:43572546-43572547	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs567112195	chr10:43572547-43572548	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs3128725	chr10:43572639-43572640	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs112839902	chr10:43572802-43572803	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs534644888	chr10:43572812-43572813	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs12267460	chr10:43572832-43572833	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs111514357	chr10:43572883-43572884	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs538680751	chr10:43572937-43572938	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs34327391	chr10:43572950-43572951	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs12246856	chr10:43572951-43572952	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs543135334	chr10:43573051-43573052	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs555248984	chr10:43573072-43573073	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs573454207	chr10:43573073-43573074	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs188900238	chr10:43573144-43573145	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs12243954	chr10:43573168-43573169	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs577437943	chr10:43573195-43573196	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs375438940	chr10:43573211-43573212	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs544680565	chr10:43573241-43573242	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs562900942	chr10:43573261-43573262	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs530558005	chr10:43573263-43573264	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs142803979	chr10:43573265-43573266	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs560774772	chr10:43573274-43573275	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs190910602	chr10:43573320-43573321	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:359 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43554400-43572000	Weak transcription	Right Atrium	heart
2	chr10:43562800-43571800	Weak transcription	Esophagus	oesophagus
3	chr10:43563000-43572000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:43571000-43572000	Bivalent Enhancer	Fetal Stomach	stomach
5	chr10:43571200-43571800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:43571200-43572000	Bivalent Enhancer	Colonic Mucosa	Colon
7	chr10:43571400-43571800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
8	chr10:43571400-43571800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
9	chr10:43571400-43571800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
10	chr10:43571400-43571800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr10:43571400-43571800	Bivalent Enhancer	Brain Anterior Caudate	brain
12	chr10:43571400-43571800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
13	chr10:43571400-43571800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr10:43571400-43571800	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr10:43571400-43571800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
16	chr10:43571400-43571800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
17	chr10:43571400-43572000	Bivalent Enhancer	Brain Germinal Matrix	brain
18	chr10:43571400-43572600	Bivalent Enhancer	Spleen	Spleen
19	chr10:43571400-43573400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr10:43571600-43571800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
21	chr10:43571600-43571800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
22	chr10:43571600-43571800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
23	chr10:43571600-43571800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
24	chr10:43571600-43571800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
25	chr10:43571600-43571800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr10:43571600-43571800	Bivalent Enhancer	Adipose Nuclei	Adipose
27	chr10:43571600-43571800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
28	chr10:43571600-43571800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
29	chr10:43571600-43571800	Flanking Bivalent TSS/Enh	A549	lung
30	chr10:43571600-43571800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
31	chr10:43571600-43572000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
32	chr10:43571600-43572000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
33	chr10:43571600-43572000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr10:43571600-43572000	Enhancers	Liver	Liver
35	chr10:43571600-43572000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
36	chr10:43571600-43572000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
37	chr10:43571600-43572000	Bivalent Enhancer	Colon Smooth Muscle	Colon
38	chr10:43571600-43572200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr10:43571600-43572200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
40	chr10:43571600-43572200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
41	chr10:43571600-43572200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr10:43571600-43573200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
43	chr10:43571600-43573400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr10:43571600-43573600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
45	chr10:43571600-43573600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
46	chr10:43571600-43573800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
47	chr10:43571800-43572000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr10:43571800-43572000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr10:43571800-43572000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
50	chr10:43571800-43572000	Bivalent/Poised TSS	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links