Variant report

Variant	rs10820926
Chromosome Location	chr9:94713368-94713369
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	MAZ	chr9:94710719-94713473	IMR90	lung:	n/a	chr9:94710846-94710856
2	SMC3	chr9:94712049-94713651	SK-N-SH	brain:	n/a	chr9:94712523-94712533 chr9:94712653-94712663
3	TBP	chr9:94713340-94713497	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ROR2	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10820904	0.82[CEU][hapmap]
rs10820927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10820929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10820935	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10820938	0.85[CEU][hapmap]
rs10992173	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10992176	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992178	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992179	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992180	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10992183	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10992190	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10992212	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10992215	0.84[EUR][1000 genomes]
rs10992216	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs10992220	0.88[EUR][1000 genomes]
rs10992222	1.00[CEU][hapmap];0.93[JPT][hapmap];0.92[EUR][1000 genomes]
rs10992230	1.00[CEU][hapmap];0.93[JPT][hapmap];0.92[EUR][1000 genomes]
rs10992233	0.92[EUR][1000 genomes]
rs10992235	0.80[EUR][1000 genomes]
rs10992236	0.80[EUR][1000 genomes]
rs11533009	1.00[CEU][hapmap];0.93[JPT][hapmap];0.92[EUR][1000 genomes]
rs12235309	0.92[EUR][1000 genomes]
rs12235310	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs12235495	1.00[CEU][hapmap];0.93[JPT][hapmap];0.92[EUR][1000 genomes]
rs12236121	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12237221	0.81[EUR][1000 genomes]
rs12237598	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs12238682	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12554060	0.87[AMR][1000 genomes]
rs16907979	1.00[CEU][hapmap]
rs16908003	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16908021	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16908135	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs16908137	1.00[CEU][hapmap];0.93[JPT][hapmap];0.92[EUR][1000 genomes]
rs1892267	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1892269	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2096388	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3750440	0.80[MEX][hapmap]
rs3858090	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs4504700	0.84[AMR][1000 genomes]
rs4641129	0.81[EUR][1000 genomes]
rs5000044	0.88[EUR][1000 genomes]
rs5000045	0.84[EUR][1000 genomes]
rs58909848	0.92[EUR][1000 genomes]
rs59114373	0.92[EUR][1000 genomes]
rs59183854	0.92[EUR][1000 genomes]
rs59856128	0.92[EUR][1000 genomes]
rs7022553	0.92[EUR][1000 genomes]
rs7033030	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7042585	1.00[CEU][hapmap]
rs7849220	1.00[CEU][hapmap];0.93[JPT][hapmap];0.92[EUR][1000 genomes]
rs7862826	1.00[CEU][hapmap];0.93[JPT][hapmap];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv530946	chr9:94633154-94715023	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv831653	chr9:94692454-94867542	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	esv3359987	chr9:94710956-94713704	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94710000-94714000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:94710400-94713400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr9:94710600-94713400	Active TSS	Ovary	ovary
4	chr9:94710800-94713400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr9:94710800-94713400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
6	chr9:94711000-94713400	Active TSS	Stomach Smooth Muscle	stomach
7	chr9:94711000-94713400	Bivalent/Poised TSS	NHDF-Ad	bronchial
8	chr9:94711200-94717000	Weak transcription	Fetal Heart	heart
9	chr9:94712600-94713400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
10	chr9:94712600-94713600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
11	chr9:94712800-94713400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
12	chr9:94713000-94713400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
13	chr9:94713000-94713400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:94713000-94713400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
15	chr9:94713000-94713400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
16	chr9:94713000-94713400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
17	chr9:94713000-94713400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
18	chr9:94713000-94713400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
19	chr9:94713000-94713400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
20	chr9:94713000-94713600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr9:94713000-94714400	Weak transcription	Pancreas	Pancrea
22	chr9:94713000-94714800	Enhancers	K562	blood
23	chr9:94713000-94716400	Weak transcription	Gastric	stomach
24	chr9:94713200-94713400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr9:94713200-94713400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
26	chr9:94713200-94713400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:94713200-94713400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr9:94713200-94713400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
29	chr9:94713200-94713400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
30	chr9:94713200-94713400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
31	chr9:94713200-94713400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
32	chr9:94713200-94713400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr9:94713200-94713400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr9:94713200-94713400	Bivalent/Poised TSS	Primary B cells from cord blood	blood
35	chr9:94713200-94713400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
36	chr9:94713200-94713400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
37	chr9:94713200-94713400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
38	chr9:94713200-94713400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr9:94713200-94713400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr9:94713200-94713400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr9:94713200-94713400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr9:94713200-94713400	Bivalent Enhancer	Liver	Liver
43	chr9:94713200-94713400	Flanking Active TSS	Colon Smooth Muscle	Colon
44	chr9:94713200-94713400	Bivalent Enhancer	Fetal Intestine Large	intestine
45	chr9:94713200-94713400	Enhancers	Fetal Intestine Small	intestine
46	chr9:94713200-94713400	Flanking Active TSS	Fetal Kidney	kidney
47	chr9:94713200-94713400	Bivalent Enhancer	Fetal Muscle Leg	muscle
48	chr9:94713200-94713400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr9:94713200-94713400	Active TSS	Rectal Smooth Muscle	rectum
50	chr9:94713200-94713400	Bivalent Enhancer	Thymus	Thymus

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