Variant report

Variant	rs11812356
Chromosome Location	chr10:5664715-5664716
allele	A/C
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	FOSL2	chr10:5664410-5664982	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr10:5664542-5665591	MCF-7	breast:	n/a	chr10:5665198-5665205 chr10:5664740-5664748
3	SMC3	chr10:5664571-5665704	SK-N-SH	brain:	n/a	chr10:5665310-5665318 chr10:5665283-5665297
4	FOS	chr10:5664649-5664809	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr10:5664713-5664828	MCF10A-Er-Src	breast:	n/a	n/a
6	RAD21	chr10:5664640-5665535	IMR90	lung:	n/a	chr10:5665279-5665298
7	GATA3	chr10:5664521-5665526	SK-N-SH	brain:	n/a	chr10:5665198-5665205 chr10:5664740-5664748
8	RAD21	chr10:5664523-5665702	SK-N-SH	brain:	n/a	chr10:5665279-5665298
9	GATA3	chr10:5664509-5665074	SK-N-SH	brain:	n/a	chr10:5664740-5664748

No.	Distal block	Cell Line	Cell type
1	chr10:5533027..5543195-chr10:5659124..5672516,23	MCF-7	breast:
2	chr10:5519924..5522534-chr10:5663921..5666651,2	K562	blood:
3	chr10:5483412..5484324-chr10:5664681..5665600,3	MCF-7	breast:
4	chr10:5484376..5493176-chr10:5653017..5671828,35	MCF-7	breast:
5	chr10:5491006..5493868-chr10:5664560..5666317,3	K562	blood:
6	chr10:5623488..5628108-chr10:5662504..5666628,7	MCF-7	breast:
7	chr10:5655010..5657602-chr10:5662784..5666424,4	MCF-7	breast:
8	chr10:5575744..5578406-chr10:5664031..5665635,2	MCF-7	breast:
9	chr10:5664649..5667001-chr10:5672952..5674907,2	K562	blood:
10	chr10:5453685..5455931-chr10:5663712..5666471,2	MCF-7	breast:
11	chr10:5534628..5543320-chr10:5658612..5667994,15	MCF-7	breast:
12	chr10:5538255..5539151-chr10:5664673..5665206,2	MCF-7	breast:
13	chr10:5478122..5480444-chr10:5662741..5665570,2	MCF-7	breast:
14	chr10:5483715..5496703-chr10:5653374..5669304,43	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228951	TF binding region
ENSG00000228685	TF binding region
ENSG00000173848	Chromatin interaction
ENSG00000240577	Chromatin interaction
ENSG00000178372	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11254968	0.94[ASN][1000 genomes]
rs11254973	0.94[ASN][1000 genomes]
rs11254986	0.94[ASN][1000 genomes]
rs11255033	0.98[ASN][1000 genomes]
rs11255036	0.98[ASN][1000 genomes]
rs11255037	0.98[ASN][1000 genomes]
rs11255038	0.98[ASN][1000 genomes]
rs11255075	0.98[ASN][1000 genomes]
rs11255511	1.00[ASN][1000 genomes]
rs11255587	1.00[ASN][1000 genomes]
rs11255592	1.00[ASN][1000 genomes]
rs11255641	1.00[ASN][1000 genomes]
rs11255736	1.00[ASN][1000 genomes]
rs11256040	0.84[ASN][1000 genomes]
rs17137747	0.91[ASN][1000 genomes]
rs41290303	0.84[EUR][1000 genomes]
rs60068477	0.86[EUR][1000 genomes]
rs60407789	0.86[EUR][1000 genomes]
rs60879535	0.94[ASN][1000 genomes]
rs72783916	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72783920	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats 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	68 gene(s)	inside rSNPs	diseases
2	nsv894798	chr10:5503610-5670275	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv523491	chr10:5542109-5720067	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	esv2757364	chr10:5557024-5720512	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	esv2759729	chr10:5557024-5804780	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	esv2758209	chr10:5637111-5804780	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv1040932	chr10:5637870-5665774	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv894806	chr10:5643511-5670275	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1054888	chr10:5645033-5694612	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv519582	chr10:5646103-5720067	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv894807	chr10:5647942-5691135	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv8599	chr10:5649129-5719928	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv1050965	chr10:5649760-5717125	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
14	nsv1044330	chr10:5652006-5717125	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
15	nsv975791	chr10:5652225-5711077	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer 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	22 gene(s)	inside rSNPs	diseases
16	nsv466720	chr10:5652277-5715401	Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
17	nsv549892	chr10:5652277-5715401	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
18	nsv1037709	chr10:5652739-5717125	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
19	nsv470917	chr10:5654167-5715401	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
20	nsv818742	chr10:5654167-5715401	Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
21	nsv1036492	chr10:5656962-5711147	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
22	nsv540473	chr10:5656962-5711147	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
23	nsv1036253	chr10:5657162-5711008	Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
24	nsv540474	chr10:5657162-5711008	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5651800-5665000	Weak transcription	Spleen	Spleen
2	chr10:5656000-5665000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:5656600-5665000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr10:5656600-5665000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr10:5656800-5665000	Weak transcription	Liver	Liver
6	chr10:5657400-5665000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr10:5658000-5665000	Weak transcription	Colonic Mucosa	Colon
8	chr10:5658000-5673600	Weak transcription	Left Ventricle	heart
9	chr10:5659200-5665000	Weak transcription	Pancreas	Pancrea
10	chr10:5661000-5665000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr10:5661200-5664800	Weak transcription	K562	blood
12	chr10:5661200-5665000	Weak transcription	Colon Smooth Muscle	Colon
13	chr10:5661200-5665000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr10:5661400-5665000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr10:5661400-5665000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr10:5661400-5665000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr10:5661600-5665000	Weak transcription	Brain Anterior Caudate	brain
18	chr10:5661600-5665000	Weak transcription	Psoas Muscle	Psoas
19	chr10:5661600-5665000	Weak transcription	Right Ventricle	heart
20	chr10:5661600-5667800	Weak transcription	HSMMtube	muscle
21	chr10:5661600-5670000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr10:5661600-5670200	Weak transcription	Right Atrium	heart
23	chr10:5661800-5665000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr10:5661800-5665000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr10:5661800-5665000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr10:5661800-5665000	Weak transcription	Fetal Intestine Large	intestine
27	chr10:5661800-5665000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr10:5661800-5665000	Weak transcription	HSMM	muscle
29	chr10:5662000-5664800	Weak transcription	Fetal Intestine Small	intestine
30	chr10:5662200-5665000	Weak transcription	Fetal Thymus	thymus
31	chr10:5662200-5665000	Weak transcription	Stomach Mucosa	stomach
32	chr10:5662200-5669800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr10:5662200-5670600	Weak transcription	Fetal Lung	lung
34	chr10:5662400-5664800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr10:5662400-5665000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr10:5662400-5665000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr10:5662400-5665000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr10:5662400-5665000	Weak transcription	HepG2	liver
39	chr10:5662600-5665000	Weak transcription	Esophagus	oesophagus
40	chr10:5662600-5665000	Weak transcription	NHLF	lung
41	chr10:5662600-5668400	Weak transcription	NH-A	brain
42	chr10:5662800-5664800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr10:5662800-5664800	Weak transcription	Fetal Stomach	stomach
44	chr10:5662800-5665000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr10:5662800-5665000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr10:5662800-5665000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr10:5662800-5665000	Weak transcription	Aorta	Aorta
48	chr10:5662800-5665000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr10:5662800-5665000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr10:5662800-5666600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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