Variant report

Variant	rs12056352
Chromosome Location	chr8:10589636-10589637
allele	C/T
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	POLR2A	chr8:10589339-10589874	H1-neurons	neurons:	n/a	n/a
2	SUZ12	chr8:10588365-10591223	H1-hESC	embryonic stem cell:	n/a	n/a
3	SUZ12	chr8:10586843-10591366	NT2-D1	testis:	n/a	n/a
4	CTBP2	chr8:10588662-10591163	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
SOX7	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10106886	1.00[EUR][1000 genomes]
rs11996505	1.00[EUR][1000 genomes]
rs11996795	1.00[EUR][1000 genomes]
rs12056503	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12056525	1.00[EUR][1000 genomes]
rs28438834	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3923468	1.00[EUR][1000 genomes]
rs3923469	1.00[EUR][1000 genomes]
rs4840509	1.00[EUR][1000 genomes]
rs4841423	1.00[EUR][1000 genomes]
rs4841424	1.00[EUR][1000 genomes]
rs4841433	1.00[EUR][1000 genomes]
rs5009113	1.00[EUR][1000 genomes]
rs57950332	1.00[EUR][1000 genomes]
rs58601768	1.00[EUR][1000 genomes]
rs60833323	1.00[EUR][1000 genomes]
rs60900921	1.00[EUR][1000 genomes]
rs6982679	1.00[EUR][1000 genomes]
rs7017257	1.00[EUR][1000 genomes]
rs7825147	0.92[ASN][1000 genomes]
rs7843903	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription 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 miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1021048	chr8:10504395-10591896	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
6	nsv527184	chr8:10530037-10589913	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1034829	chr8:10537081-10591896	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1022582	chr8:10571218-10636162	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv539468	chr8:10571218-10636162	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
11	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10586600-10592600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
2	chr8:10587200-10592000	Bivalent Enhancer	Fetal Brain Male	brain
3	chr8:10587400-10590400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr8:10587400-10591200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr8:10587400-10592400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr8:10587400-10592400	Bivalent Enhancer	Placenta	Placenta
7	chr8:10588000-10592000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
8	chr8:10588000-10592400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
9	chr8:10588200-10590000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr8:10588200-10590800	Enhancers	Gastric	stomach
11	chr8:10588200-10591600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
12	chr8:10588400-10591600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
13	chr8:10588400-10592000	Enhancers	Lung	lung
14	chr8:10588400-10592200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr8:10588600-10590000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
16	chr8:10588600-10590600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:10588600-10591400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr8:10588600-10591600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:10588800-10589800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:10588800-10590000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
21	chr8:10588800-10590000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr8:10588800-10590200	Enhancers	Liver	Liver
23	chr8:10588800-10590200	Weak transcription	HUVEC	blood vessel
24	chr8:10588800-10590400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
25	chr8:10588800-10590600	Weak transcription	HMEC	breast
26	chr8:10588800-10592400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
27	chr8:10588800-10592400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:10589000-10590000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:10589000-10590200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:10589000-10590200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:10589000-10590400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:10589000-10590600	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr8:10589200-10589800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:10589200-10589800	Bivalent Enhancer	Right Ventricle	heart
35	chr8:10589200-10590200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
36	chr8:10589400-10589800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
37	chr8:10589400-10589800	Weak transcription	Pancreas	Pancrea
38	chr8:10589400-10589800	Weak transcription	Right Atrium	heart
39	chr8:10589400-10590400	Bivalent Enhancer	Brain Anterior Caudate	brain
40	chr8:10589600-10589800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
41	chr8:10589600-10590000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:10589600-10590000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:10589600-10590000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
44	chr8:10589600-10590200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr8:10589600-10590200	Bivalent Enhancer	Brain Substantia Nigra	brain
46	chr8:10589600-10590200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
47	chr8:10589600-10590400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
48	chr8:10589600-10590400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr8:10589600-10590600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:10589600-10590600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain

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