Variant report

Variant	rs3098708
Chromosome Location	chr8:95569768-95569769
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	CBX3	chr8:95569680-95570225	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95568828..95570983-chr8:95731754..95733719,2	MCF-7	breast:

Variant related genes	Relation type
KIAA1429	TF binding region
ENSG00000156162	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1023766	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1372047	0.86[EUR][1000 genomes]
rs1834525	0.91[ASN][1000 genomes]
rs1866845	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2019783	0.81[JPT][hapmap]
rs2046666	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2099788	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2119460	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2246066	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2381830	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2381831	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2445721	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2450558	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2470739	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2470740	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2470742	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2515100	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2515153	1.00[CHB][hapmap]
rs2919654	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2921385	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2921387	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2930967	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2930969	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs3098707	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3098709	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3098712	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3098715	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3098716	0.92[AFR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3098718	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3098719	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3098725	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3099398	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs3099403	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3099404	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3099406	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3099407	1.00[CHB][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes]
rs3099412	1.00[CHB][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes]
rs3102841	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs3102845	0.85[EUR][1000 genomes]
rs3102847	0.82[ASN][1000 genomes]
rs3102851	0.89[ASN][1000 genomes]
rs3102855	0.84[EUR][1000 genomes]
rs3102859	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3102862	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3102874	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3102875	0.88[ASN][1000 genomes]
rs3102877	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3102878	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3133601	0.91[ASN][1000 genomes]
rs3133635	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3133637	0.83[EUR][1000 genomes]
rs3133640	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3133645	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3133648	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3133649	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3133651	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3133654	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3133656	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3133657	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3133658	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs935052	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs957446	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS 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 miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv429928	chr8:95488800-95672033	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv611750	chr8:95519205-95574634	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1017256	chr8:95555083-95570079	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1033318	chr8:95556054-95576338	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers 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	10 gene(s)	inside rSNPs	diseases
8	nsv1032065	chr8:95556054-95578349	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1016339	chr8:95556054-95585807	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv1021702	chr8:95556054-95589194	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1033345	chr8:95556375-95570533	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv1029802	chr8:95556959-95578349	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	esv3584580	chr8:95557287-95576350	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv438072	chr8:95558694-95571443	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv429929	chr8:95564533-95676894	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv971684	chr8:95566071-95577827	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95566800-95569800	Weak transcription	Stomach Mucosa	stomach
2	chr8:95566800-95573200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:95566800-95573200	Weak transcription	Spleen	Spleen
4	chr8:95566800-95575200	Weak transcription	Small Intestine	intestine
5	chr8:95566800-95576000	Weak transcription	Fetal Heart	heart
6	chr8:95567000-95569800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:95567000-95569800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:95567000-95569800	Weak transcription	Esophagus	oesophagus
9	chr8:95567000-95569800	Weak transcription	Fetal Intestine Small	intestine
10	chr8:95567000-95569800	Weak transcription	Fetal Kidney	kidney
11	chr8:95567000-95569800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr8:95567000-95569800	Weak transcription	Fetal Stomach	stomach
13	chr8:95567000-95569800	Weak transcription	Gastric	stomach
14	chr8:95567000-95569800	Weak transcription	Ovary	ovary
15	chr8:95567000-95569800	Weak transcription	Right Ventricle	heart
16	chr8:95567000-95570000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:95567000-95570000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:95567000-95570400	Weak transcription	Hela-S3	cervix
19	chr8:95567000-95570800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:95567000-95570800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr8:95567000-95571800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr8:95567000-95572200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:95567000-95573000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:95567000-95573200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr8:95567000-95573200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:95567000-95573200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:95567000-95573200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr8:95567000-95573200	Weak transcription	Left Ventricle	heart
29	chr8:95567000-95573200	Weak transcription	Thymus	Thymus
30	chr8:95567000-95575000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:95567000-95575200	Weak transcription	Brain Anterior Caudate	brain
32	chr8:95567000-95575200	Weak transcription	Fetal Brain Female	brain
33	chr8:95567000-95575200	Weak transcription	Pancreas	Pancrea
34	chr8:95567000-95575200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr8:95567000-95575400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:95567000-95575400	Weak transcription	Placenta	Placenta
37	chr8:95567000-95575800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr8:95567000-95576200	Weak transcription	Brain Angular Gyrus	brain
39	chr8:95567000-95576600	Weak transcription	Brain Hippocampus Middle	brain
40	chr8:95567000-95576600	Weak transcription	Fetal Intestine Large	intestine
41	chr8:95567000-95576800	Weak transcription	Lung	lung
42	chr8:95567000-95577000	Weak transcription	Fetal Thymus	thymus
43	chr8:95567000-95577200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr8:95567000-95577400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:95567000-95577800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:95567000-95578800	Weak transcription	Fetal Lung	lung
47	chr8:95567000-95579200	Weak transcription	Aorta	Aorta
48	chr8:95567000-95579200	Weak transcription	Colon Smooth Muscle	Colon
49	chr8:95567000-95579600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr8:95567000-95580600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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