Variant report

Variant	rs4629869
Chromosome Location	chr8:9471265-9471266
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	KAP1	chr8:9471230-9473125	U2OS	brain:	n/a	n/a
2	GATA3	chr8:9471249-9471897	SK-N-SH	brain:	n/a	chr8:9471415-9471432
3	GATA3	chr8:9471223-9471905	SK-N-SH	brain:	n/a	chr8:9471415-9471432

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9465333..9467954-chr8:9469565..9472084,2	MCF-7	breast:

Variant related genes	Relation type
TNKS	TF binding region

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10086535	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10090277	1.00[CEU][hapmap];0.84[JPT][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10090998	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10090999	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10093972	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.81[TSI][hapmap];0.87[YRI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10105767	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10105968	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11249940	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11249944	0.86[EUR][1000 genomes]
rs11984920	0.88[CEU][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];0.83[TSI][hapmap];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11988208	0.86[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs11991831	0.86[EUR][1000 genomes]
rs11995167	0.87[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs12056794	0.87[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12234900	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs12234999	0.87[CEU][hapmap];0.97[GIH][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs12235001	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs28495967	0.80[EUR][1000 genomes]
rs28499425	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28562614	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28675389	0.88[EUR][1000 genomes]
rs3209608	0.82[EUR][1000 genomes]
rs33944167	0.90[EUR][1000 genomes]
rs34614689	0.88[EUR][1000 genomes]
rs35052906	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35420737	0.84[EUR][1000 genomes]
rs35721526	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36036709	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4319098	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.91[TSI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4348499	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4380943	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4383973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4474027	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];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4612344	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4841215	0.87[CEU][hapmap];0.90[GIH][hapmap];0.90[TSI][hapmap]
rs5002814	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5002815	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.88[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.84[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5018578	1.00[CEU][hapmap];0.82[JPT][hapmap];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55924085	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57000316	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57024674	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57331392	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57482128	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57580633	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57987233	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58458097	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58596872	0.92[EUR][1000 genomes]
rs58981097	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59201801	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59268701	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59519630	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59940446	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60051555	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60078276	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60222666	0.92[EUR][1000 genomes]
rs60801852	0.86[EUR][1000 genomes]
rs60857446	0.86[EUR][1000 genomes]
rs60942347	0.90[EUR][1000 genomes]
rs61594550	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61682841	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6422356	0.87[CEU][hapmap];0.90[GIH][hapmap];0.88[JPT][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs6601358	0.90[EUR][1000 genomes]
rs6981763	0.82[EUR][1000 genomes]
rs6984737	1.00[CEU][hapmap];0.85[CHB][hapmap];0.87[CHD][hapmap];0.84[GIH][hapmap];0.81[TSI][hapmap];0.94[EUR][1000 genomes]
rs6985140	0.94[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs6986755	0.87[CEU][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs6987259	0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes]
rs6987746	0.84[EUR][1000 genomes]
rs6990116	0.87[CEU][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs6992432	0.84[GIH][hapmap]
rs6994452	0.82[CEU][hapmap];0.86[EUR][1000 genomes]
rs6995292	0.87[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs7000182	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7001395	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs7002917	1.00[CEU][hapmap];0.85[CHB][hapmap];0.87[CHD][hapmap];0.87[GIH][hapmap];0.81[TSI][hapmap];0.94[EUR][1000 genomes]
rs7009596	0.88[EUR][1000 genomes]
rs7009863	0.90[EUR][1000 genomes]
rs7010154	0.87[CEU][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap]
rs7013369	0.82[EUR][1000 genomes]
rs7014218	0.90[EUR][1000 genomes]
rs7016632	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[EUR][1000 genomes]
rs7018268	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7018348	0.92[EUR][1000 genomes]
rs73523222	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73523224	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73523249	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73535828	0.96[EUR][1000 genomes]
rs73537955	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73537959	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73537971	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73539904	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73539907	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73662516	0.86[EUR][1000 genomes]
rs7813518	0.86[EUR][1000 genomes]
rs7815297	0.90[EUR][1000 genomes]
rs7815378	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7815506	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7815644	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7818016	0.92[EUR][1000 genomes]
rs7821007	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7827395	0.88[EUR][1000 genomes]
rs7829677	0.82[EUR][1000 genomes]
rs7837344	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7837923	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs7840161	0.98[EUR][1000 genomes]
rs7846023	0.87[CEU][hapmap];0.97[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs9644705	0.90[EUR][1000 genomes]
rs9644706	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS 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 miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9435600-9472400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:9435800-9472600	Weak transcription	HSMMtube	muscle
3	chr8:9439400-9472400	Weak transcription	HSMM	muscle
4	chr8:9450200-9472200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:9450600-9480200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr8:9455400-9471800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:9461000-9486400	Weak transcription	Fetal Intestine Small	intestine
8	chr8:9462200-9473800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:9463000-9479800	Weak transcription	Dnd41	blood
10	chr8:9463200-9480600	Weak transcription	Primary T cells from cord blood	blood
11	chr8:9466200-9473000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:9466200-9480000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:9466200-9484400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr8:9466400-9471800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:9466400-9471800	Weak transcription	NHDF-Ad	bronchial
16	chr8:9466400-9472400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:9466400-9472600	Weak transcription	Primary B cells from cord blood	blood
18	chr8:9466400-9472600	Weak transcription	Pancreas	Pancrea
19	chr8:9466400-9472600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr8:9466400-9479800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr8:9466400-9483200	Weak transcription	Liver	Liver
22	chr8:9466400-9484200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr8:9466400-9485400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr8:9466400-9491000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr8:9466800-9471600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:9467000-9471800	Weak transcription	GM12878-XiMat	blood
27	chr8:9467000-9472000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr8:9467000-9472600	Weak transcription	Right Ventricle	heart
29	chr8:9467200-9471400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:9467200-9471600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr8:9467800-9471600	Weak transcription	HUVEC	blood vessel
32	chr8:9468400-9472800	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr8:9468600-9472400	Weak transcription	Fetal Brain Female	brain
34	chr8:9468800-9471400	Weak transcription	Brain Germinal Matrix	brain
35	chr8:9468800-9472000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr8:9468800-9472400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr8:9468800-9472600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:9468800-9472800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr8:9468800-9473800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr8:9468800-9474600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:9468800-9476600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr8:9469000-9472000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr8:9469000-9473800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr8:9469000-9476600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr8:9469600-9471800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:9469600-9472200	Enhancers	Primary hematopoietic stem cells	blood
47	chr8:9469800-9472400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:9470200-9472400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:9470200-9473800	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr8:9470400-9471600	Enhancers	Brain Anterior Caudate	brain

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