Variant report

Variant	rs3098707
Chromosome Location	chr8:95570488-95570489
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95568828..95570983-chr8:95731754..95733719,2	MCF-7	breast:
2	chr8:95569874..95571629-chr8:95571639..95574216,2	K562	blood:
3	chr8:95564914..95567104-chr8:95570346..95572285,2	K562	blood:
4	chr8:95565950..95567882-chr8:95569895..95571408,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253704	Chromatin interaction
ENSG00000164944	Chromatin interaction
ENSG00000156162	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1023766	0.92[AFR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1372047	0.85[EUR][1000 genomes]
rs1834525	0.93[ASN][1000 genomes]
rs1866845	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2099788	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2119460	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2381830	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2381831	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3098708	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3098709	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3098712	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3098715	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3098716	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3098718	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3098719	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3098725	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3099403	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3099404	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3099406	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3099407	0.84[EUR][1000 genomes]
rs3099412	0.84[EUR][1000 genomes]
rs3102841	0.88[ASN][1000 genomes]
rs3102845	0.84[EUR][1000 genomes]
rs3102847	0.85[ASN][1000 genomes]
rs3102851	0.91[ASN][1000 genomes]
rs3102855	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3102859	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3102862	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3102874	0.97[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102875	0.90[ASN][1000 genomes]
rs3102877	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3102878	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3133601	0.93[ASN][1000 genomes]
rs3133635	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3133637	0.82[EUR][1000 genomes]
rs3133640	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3133645	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3133648	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3133649	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3133651	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3133654	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133656	0.97[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133657	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133658	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs957446	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95566800-95573200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:95566800-95573200	Weak transcription	Spleen	Spleen
3	chr8:95566800-95575200	Weak transcription	Small Intestine	intestine
4	chr8:95566800-95576000	Weak transcription	Fetal Heart	heart
5	chr8:95567000-95570800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:95567000-95570800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr8:95567000-95571800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:95567000-95572200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:95567000-95573000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:95567000-95573200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr8:95567000-95573200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:95567000-95573200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:95567000-95573200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr8:95567000-95573200	Weak transcription	Left Ventricle	heart
15	chr8:95567000-95573200	Weak transcription	Thymus	Thymus
16	chr8:95567000-95575000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:95567000-95575200	Weak transcription	Brain Anterior Caudate	brain
18	chr8:95567000-95575200	Weak transcription	Fetal Brain Female	brain
19	chr8:95567000-95575200	Weak transcription	Pancreas	Pancrea
20	chr8:95567000-95575200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr8:95567000-95575400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:95567000-95575400	Weak transcription	Placenta	Placenta
23	chr8:95567000-95575800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr8:95567000-95576200	Weak transcription	Brain Angular Gyrus	brain
25	chr8:95567000-95576600	Weak transcription	Brain Hippocampus Middle	brain
26	chr8:95567000-95576600	Weak transcription	Fetal Intestine Large	intestine
27	chr8:95567000-95576800	Weak transcription	Lung	lung
28	chr8:95567000-95577000	Weak transcription	Fetal Thymus	thymus
29	chr8:95567000-95577200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr8:95567000-95577400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:95567000-95577800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:95567000-95578800	Weak transcription	Fetal Lung	lung
33	chr8:95567000-95579200	Weak transcription	Aorta	Aorta
34	chr8:95567000-95579200	Weak transcription	Colon Smooth Muscle	Colon
35	chr8:95567000-95579600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr8:95567000-95580600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:95567000-95583000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr8:95567000-95584000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr8:95567200-95570600	Weak transcription	A549	lung
40	chr8:95567200-95570600	Weak transcription	HUVEC	blood vessel
41	chr8:95567200-95573200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:95567200-95573200	Weak transcription	Liver	Liver
43	chr8:95567200-95573200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr8:95567200-95573200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr8:95567200-95573200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr8:95567200-95573400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr8:95567200-95574800	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr8:95567200-95575000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:95567200-95575000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:95567200-95575400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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