Variant report

Variant	rs3133651
Chromosome Location	chr8:95559092-95559093
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:95559071-95559204	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:95558872-95559481	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:95556183..95559262-chr8:95651441..95653267,3	MCF-7	breast:
2	chr8:95557664..95559966-chr8:95650412..95652511,2	MCF-7	breast:
3	chr8:95558228..95561115-chr8:95906355..95909204,2	K562	blood:
4	chr8:95553642..95556255-chr8:95557800..95559824,2	K562	blood:
5	chr8:95555945..95557652-chr8:95557953..95559866,2	MCF-7	breast:

No data

Variant related genes	Relation type
KIAA1429	TF binding region
ENSG00000156170	Chromatin interaction
ENSG00000164944	Chromatin interaction
ENSG00000261437	Chromatin interaction
ENSG00000175305	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1023766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1372047	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1834525	0.88[ASN][1000 genomes]
rs1866845	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2019783	0.82[CHD][hapmap];0.81[JPT][hapmap]
rs2046666	1.00[CHB][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap]
rs2099788	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2119460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2246066	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2381830	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2381831	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445721	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2450558	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2470739	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2470740	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2470742	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2515100	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2515153	1.00[CHB][hapmap];0.84[CHD][hapmap]
rs2515165	1.00[CHB][hapmap]
rs2919654	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2921385	1.00[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap]
rs2921387	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2930967	1.00[CHB][hapmap];0.87[CHD][hapmap];0.81[JPT][hapmap]
rs2930969	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs3098707	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3098708	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3098709	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3098712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3098715	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3098716	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3098718	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3098719	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3098725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3099398	1.00[CHB][hapmap];0.96[CHD][hapmap];0.87[JPT][hapmap]
rs3099403	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3099404	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3099406	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3099407	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3099412	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3099413	0.88[EUR][1000 genomes]
rs3102841	1.00[CHB][hapmap];0.96[CHD][hapmap];0.84[GIH][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3102845	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3102847	0.80[ASN][1000 genomes]
rs3102851	0.86[ASN][1000 genomes]
rs3102855	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3102859	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3102862	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3102874	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3102875	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3102877	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3133601	0.88[ASN][1000 genomes]
rs3133635	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3133637	0.94[EUR][1000 genomes]
rs3133640	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3133645	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3133648	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];0.81[YRI][hapmap];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3133649	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3133654	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];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3133656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3133657	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3133658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4734279	0.85[CEU][hapmap]
rs935052	1.00[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap]
rs957446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv1026768	chr8:95556054-95569566	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	esv3480548	chr8:95558043-95561065	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
16	esv3480549	chr8:95558043-95561065	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
17	esv13932	chr8:95558324-95561351	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
18	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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95497200-95564200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:95541600-95563600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:95541600-95563800	Weak transcription	Stomach Mucosa	stomach
4	chr8:95543200-95563200	Weak transcription	Fetal Brain Male	brain
5	chr8:95543200-95564800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:95543200-95564800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:95543600-95564000	Weak transcription	HSMMtube	muscle
8	chr8:95545200-95564000	Weak transcription	Psoas Muscle	Psoas
9	chr8:95546200-95564800	Weak transcription	Esophagus	oesophagus
10	chr8:95546400-95564000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:95546400-95564000	Weak transcription	Aorta	Aorta
12	chr8:95546600-95563600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr8:95546800-95563600	Weak transcription	Brain Angular Gyrus	brain
14	chr8:95547000-95563000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:95547000-95564000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr8:95547000-95565000	Weak transcription	Pancreas	Pancrea
17	chr8:95547200-95563200	Weak transcription	Gastric	stomach
18	chr8:95547400-95563200	Weak transcription	Brain Substantia Nigra	brain
19	chr8:95547400-95563600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr8:95548000-95563600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:95548400-95563800	Weak transcription	Brain Hippocampus Middle	brain
22	chr8:95548400-95563800	Weak transcription	Small Intestine	intestine
23	chr8:95548800-95564000	Weak transcription	Colonic Mucosa	Colon
24	chr8:95549000-95563000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:95549000-95563800	Weak transcription	HUVEC	blood vessel
26	chr8:95549000-95564000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr8:95549000-95564000	Weak transcription	Brain Germinal Matrix	brain
28	chr8:95549400-95561800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr8:95549400-95563200	Weak transcription	Ovary	ovary
30	chr8:95549400-95563400	Weak transcription	NHDF-Ad	bronchial
31	chr8:95549400-95564000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr8:95549600-95563800	Weak transcription	Brain Anterior Caudate	brain
33	chr8:95550000-95563600	Weak transcription	NH-A	brain
34	chr8:95550400-95563200	Weak transcription	Fetal Brain Female	brain
35	chr8:95550600-95564000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr8:95550600-95564400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr8:95551600-95564800	Weak transcription	Thymus	Thymus
38	chr8:95552000-95563600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr8:95552200-95561000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:95552200-95561000	Weak transcription	Left Ventricle	heart
41	chr8:95552200-95561200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr8:95552200-95562000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr8:95552200-95563000	Weak transcription	Right Ventricle	heart
44	chr8:95552200-95563600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:95552200-95563600	Weak transcription	NHLF	lung
46	chr8:95552200-95563800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:95552200-95565000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:95552400-95559200	Weak transcription	Primary B cells from cord blood	blood
49	chr8:95552400-95561200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:95552400-95561200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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