Variant report

Variant	rs9693192
Chromosome Location	chr8:120807553-120807554
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	GATA3	chr8:120807454-120807811	SH-SY5Y	brain:	n/a	n/a

Variant related genes	Relation type
TAF2	TF binding region

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10086597	1.00[ASN][1000 genomes]
rs10088028	0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs10089043	1.00[ASN][1000 genomes]
rs10089416	1.00[ASN][1000 genomes]
rs10090726	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10093746	1.00[ASN][1000 genomes]
rs10095185	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095406	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095508	1.00[ASN][1000 genomes]
rs10095955	1.00[ASN][1000 genomes]
rs10097203	1.00[ASN][1000 genomes]
rs10097757	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10098362	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10099163	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10101222	1.00[ASN][1000 genomes]
rs10101391	1.00[ASN][1000 genomes]
rs10101842	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10101983	1.00[ASN][1000 genomes]
rs10102102	1.00[ASN][1000 genomes]
rs10102508	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10104449	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10105858	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10106425	1.00[ASN][1000 genomes]
rs10109920	1.00[ASN][1000 genomes]
rs10109941	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10110853	1.00[ASN][1000 genomes]
rs10505373	1.00[ASN][1000 genomes]
rs12334414	1.00[ASN][1000 genomes]
rs12334539	1.00[ASN][1000 genomes]
rs12334592	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12386813	1.00[ASN][1000 genomes]
rs13328369	1.00[AMR][1000 genomes]
rs13439791	0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs1433949	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs16892875	1.00[ASN][1000 genomes]
rs16893011	1.00[ASN][1000 genomes]
rs16893021	1.00[ASN][1000 genomes]
rs16893034	1.00[ASN][1000 genomes]
rs16893091	0.82[YRI][hapmap]
rs2139432	1.00[ASN][1000 genomes]
rs2164021	1.00[ASN][1000 genomes]
rs28393075	1.00[ASN][1000 genomes]
rs28436011	1.00[ASN][1000 genomes]
rs28447970	1.00[ASN][1000 genomes]
rs28449953	1.00[ASN][1000 genomes]
rs28502370	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28517862	1.00[ASN][1000 genomes]
rs28529634	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28570063	1.00[ASN][1000 genomes]
rs28575743	1.00[ASN][1000 genomes]
rs28579855	1.00[ASN][1000 genomes]
rs28589493	1.00[ASN][1000 genomes]
rs28619538	0.83[AFR][1000 genomes]
rs28636993	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28637899	1.00[ASN][1000 genomes]
rs28673002	1.00[ASN][1000 genomes]
rs28673290	1.00[ASN][1000 genomes]
rs28678910	1.00[ASN][1000 genomes]
rs28684724	1.00[ASN][1000 genomes]
rs28701610	1.00[ASN][1000 genomes]
rs28723382	1.00[ASN][1000 genomes]
rs28735236	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28852781	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871029	0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs4871774	1.00[ASN][1000 genomes]
rs4871792	0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs55834530	1.00[ASN][1000 genomes]
rs6469842	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs6469843	1.00[ASN][1000 genomes]
rs6980897	1.00[ASN][1000 genomes]
rs6981151	1.00[ASN][1000 genomes]
rs6984913	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986364	1.00[ASN][1000 genomes]
rs6989284	1.00[ASN][1000 genomes]
rs6989323	1.00[ASN][1000 genomes]
rs6990166	1.00[YRI][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6998771	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7006490	1.00[ASN][1000 genomes]
rs7009770	1.00[ASN][1000 genomes]
rs7010474	1.00[ASN][1000 genomes]
rs7010646	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7010729	1.00[ASN][1000 genomes]
rs7010887	1.00[ASN][1000 genomes]
rs72673603	1.00[ASN][1000 genomes]
rs72673616	1.00[ASN][1000 genomes]
rs72673617	1.00[ASN][1000 genomes]
rs72673639	1.00[ASN][1000 genomes]
rs72673643	1.00[ASN][1000 genomes]
rs72690149	1.00[ASN][1000 genomes]
rs73702610	1.00[ASN][1000 genomes]
rs7831321	1.00[ASN][1000 genomes]
rs7833422	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843034	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs7843631	1.00[ASN][1000 genomes]
rs956748	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs9656932	1.00[ASN][1000 genomes]
rs9987078	1.00[ASN][1000 genomes]
rs9987272	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	esv3481251	chr8:120800778-120823850	Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3481253	chr8:120800792-120823847	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120742600-120812800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:120744000-120814600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:120744400-120824400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:120781000-120813800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr8:120781200-120807800	Weak transcription	NHLF	lung
6	chr8:120781200-120812800	Weak transcription	Colonic Mucosa	Colon
7	chr8:120781200-120829400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:120781400-120812800	Weak transcription	Right Ventricle	heart
9	chr8:120781400-120813800	Weak transcription	Aorta	Aorta
10	chr8:120781600-120812800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr8:120781600-120844200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr8:120785200-120812000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr8:120785200-120812600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:120785600-120810600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr8:120785800-120808800	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr8:120785800-120810400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:120786600-120810000	Strong transcription	Fetal Thymus	thymus
18	chr8:120791000-120833200	Weak transcription	Fetal Heart	heart
19	chr8:120792400-120812600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:120793400-120814200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr8:120794800-120810800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:120795800-120812800	Weak transcription	HSMMtube	muscle
23	chr8:120797200-120812800	Weak transcription	Brain Germinal Matrix	brain
24	chr8:120798600-120811000	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr8:120800200-120821800	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:120800400-120808200	Strong transcription	Adipose Nuclei	Adipose
27	chr8:120800400-120810000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:120800400-120810200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:120800400-120810200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr8:120800400-120810400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:120800400-120810800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:120800400-120810800	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:120800400-120810800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:120800400-120812800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:120800600-120808000	Strong transcription	Osteobl	bone
36	chr8:120800600-120810000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:120800600-120810200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:120800600-120810200	Strong transcription	HSMM	muscle
39	chr8:120800600-120810600	Strong transcription	HUVEC	blood vessel
40	chr8:120800600-120811000	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr8:120800800-120808200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:120800800-120810400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr8:120801000-120808200	Strong transcription	NHDF-Ad	bronchial
44	chr8:120801600-120812800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr8:120801800-120809800	Weak transcription	K562	blood
46	chr8:120801800-120830400	Weak transcription	NHEK	skin
47	chr8:120802400-120810000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:120802600-120818200	Weak transcription	Small Intestine	intestine
49	chr8:120802800-120808400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr8:120802800-120812800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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