Variant report

Variant	rs11250355
Chromosome Location	chr10:1286153-1286154
allele	A/G
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	RAD21	chr10:1285871-1286313	H1-hESC	embryonic stem cell:	n/a	chr10:1286128-1286147 chr10:1285944-1285956 chr10:1286131-1286144
2	CTCF	chr10:1286040-1286190	HCT-116	colon:	n/a	chr10:1286130-1286148 chr10:1286132-1286145
3	CTCF	chr10:1286080-1286230	NB4	blood:	n/a	chr10:1286130-1286148 chr10:1286132-1286145
4	CTCF	chr10:1286103-1286195	MCF-7	breast:	n/a	chr10:1286130-1286148 chr10:1286132-1286145
5	CTCF	chr10:1286067-1286233	Hela-S3	cervix:	n/a	chr10:1286130-1286148 chr10:1286132-1286145
6	ELF1	chr10:1285983-1286229	K562	blood:	n/a	n/a
7	CTCF	chr10:1286002-1286220	H1-hESC	embryonic stem cell:	n/a	chr10:1286130-1286148 chr10:1286132-1286145
8	CTCF	chr10:1286146-1286168	HepG2	liver:	n/a	n/a
9	CTCF	chr10:1285953-1286319	K562	blood:	n/a	chr10:1286130-1286148 chr10:1286132-1286145
10	CTCFL	chr10:1285989-1286176	K562	blood:	n/a	n/a
11	CTCF	chr10:1286040-1286190	HEK293	kidney:	n/a	chr10:1286130-1286148 chr10:1286132-1286145
12	RAD21	chr10:1286043-1286170	K562	blood:	n/a	chr10:1286128-1286147 chr10:1286131-1286144
13	CTCF	chr10:1286080-1286230	A549	lung:	n/a	chr10:1286130-1286148 chr10:1286132-1286145
14	CTCF	chr10:1286100-1286250	K562	blood:	n/a	chr10:1286130-1286148 chr10:1286132-1286145
15	JUND	chr10:1285954-1286320	K562	blood:	n/a	n/a
16	CTCF	chr10:1286000-1286223	A549	lung:	n/a	chr10:1286130-1286148 chr10:1286132-1286145
17	RAD21	chr10:1285952-1286197	HepG2	liver:	n/a	chr10:1286128-1286147 chr10:1286131-1286144
18	CTCF	chr10:1286060-1286210	GM12873	blood:	n/a	chr10:1286130-1286148 chr10:1286132-1286145
19	CTCF	chr10:1285976-1286298	H1-hESC	embryonic stem cell:	n/a	chr10:1286130-1286148 chr10:1286132-1286145
20	CTCF	chr10:1285952-1286333	K562	blood:	n/a	chr10:1286130-1286148 chr10:1286132-1286145
21	CTCF	chr10:1286093-1286187	GM13977	blood:	n/a	chr10:1286130-1286148 chr10:1286132-1286145
22	CTCF	chr10:1286040-1286190	WERI-Rb-1	eye:	n/a	chr10:1286130-1286148 chr10:1286132-1286145
23	CTCF	chr10:1286040-1286190	HepG2	liver:	n/a	chr10:1286130-1286148 chr10:1286132-1286145
24	CTCF	chr10:1286040-1286190	GM12873	blood:	n/a	chr10:1286130-1286148 chr10:1286132-1286145
25	CTCF	chr10:1286037-1286237	HepG2	liver:	n/a	chr10:1286130-1286148 chr10:1286132-1286145
26	HCFC1	chr10:1286111-1286236	K562	blood:	n/a	n/a
27	MYC	chr10:1286093-1286199	K562	blood:	n/a	n/a
28	CTCF	chr10:1286020-1286170	HRE	kidney:	n/a	chr10:1286130-1286148 chr10:1286132-1286145
29	CTCF	chr10:1286122-1286202	GM19239	blood:	n/a	chr10:1286130-1286148 chr10:1286132-1286145
30	RAD21	chr10:1285949-1286332	HepG2	liver:	n/a	chr10:1286128-1286147 chr10:1286131-1286144
31	CTCF	chr10:1285954-1286284	K562	blood:	n/a	chr10:1286130-1286148 chr10:1286132-1286145
32	SMC3	chr10:1286067-1286224	K562	blood:	n/a	chr10:1286132-1286146
33	CTCF	chr10:1286020-1286170	WERI-Rb-1	eye:	n/a	chr10:1286130-1286148 chr10:1286132-1286145
34	CTCF	chr10:1286040-1286190	SK-N-SH_RA	brain:	n/a	chr10:1286130-1286148 chr10:1286132-1286145
35	RAD21	chr10:1285994-1286292	HepG2	liver:	n/a	chr10:1286128-1286147 chr10:1286131-1286144
36	CTCF	chr10:1286037-1286254	K562	blood:	n/a	chr10:1286130-1286148 chr10:1286132-1286145
37	CTCF	chr10:1286120-1286270	GM12864	blood:	n/a	chr10:1286130-1286148 chr10:1286132-1286145
38	RAD21	chr10:1285850-1286395	H1-hESC	embryonic stem cell:	n/a	chr10:1286128-1286147 chr10:1285944-1285956 chr10:1286131-1286144
39	CTCF	chr10:1286060-1286210	HUVEC	blood vessel:	n/a	chr10:1286130-1286148 chr10:1286132-1286145
40	CTCF	chr10:1286051-1286256	H1-hESC	embryonic stem cell:	n/a	chr10:1286130-1286148 chr10:1286132-1286145
41	CTCFL	chr10:1286064-1286197	K562	blood:	n/a	n/a
42	CTCF	chr10:1286108-1286186	MCF-7	breast:	n/a	chr10:1286130-1286148 chr10:1286132-1286145
43	MAX	chr10:1286026-1286192	K562	blood:	n/a	n/a
44	CTCF	chr10:1286080-1286230	GM12869	blood:	n/a	chr10:1286130-1286148 chr10:1286132-1286145
45	CTCF	chr10:1286040-1286190	MCF-7	breast:	n/a	chr10:1286130-1286148 chr10:1286132-1286145
46	CTCF	chr10:1286125-1286245	Kidney_OC	kidney:	n/a	chr10:1286130-1286148 chr10:1286132-1286145
47	CTCF	chr10:1286029-1286209	K562	blood:	n/a	chr10:1286130-1286148 chr10:1286132-1286145
48	RAD21	chr10:1285882-1286258	HCT-116	colon:	n/a	chr10:1286128-1286147 chr10:1285944-1285956 chr10:1286131-1286144
49	BHLHE40	chr10:1285906-1286219	K562	blood:	n/a	n/a
50	CTCF	chr10:1286121-1286185	GM12892	blood:	n/a	chr10:1286130-1286148 chr10:1286132-1286145

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:1281009..1282976-chr10:1285216..1287322,2	MCF-7	breast:

Variant related genes	Relation type
ADARB2	TF binding region
ENSG00000185736	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2805572	1.00[ASN][1000 genomes]
rs7092912	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530116	chr10:776548-1401075	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1052540	chr10:887562-1300134	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv540407	chr10:887562-1300134	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv533861	chr10:945438-1382068	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv530117	chr10:945438-1729634	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv817532	chr10:964660-1885945	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv949405	chr10:1010464-1376105	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv894725	chr10:1110464-1421516	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv1041498	chr10:1117200-1760190	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv1052682	chr10:1162925-1675641	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv466699	chr10:1166400-1351088	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv549768	chr10:1166400-1351088	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv1043944	chr10:1168095-1626019	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv540411	chr10:1168095-1626019	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv1045618	chr10:1179519-1537451	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv1047911	chr10:1182123-1515126	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv1041995	chr10:1195214-1286740	Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv1046041	chr10:1195214-2189155	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
19	nsv1039304	chr10:1203718-1287772	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv527883	chr10:1218030-1314548	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
21	esv2761563	chr10:1230443-1341958	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
22	nsv894732	chr10:1230968-1492512	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	nsv1037054	chr10:1232041-1865296	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
24	nsv540413	chr10:1232041-1865296	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
25	nsv549769	chr10:1244020-1764966	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
26	nsv1048427	chr10:1284040-1388052	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	nsv540414	chr10:1284040-1388052	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1281800-1287800	Weak transcription	Right Atrium	heart
2	chr10:1283000-1286400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr10:1285600-1286800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
4	chr10:1285800-1286400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr10:1285800-1287000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:1286000-1286200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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