Variant report

Variant	rs6470339
Chromosome Location	chr8:126161468-126161469
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126159214..126163322-chr8:126440490..126444259,4	MCF-7	breast:
2	chr8:126159964..126163627-chr8:126168529..126173031,5	MCF-7	breast:
3	chr8:126153172..126155886-chr8:126160389..126162801,2	K562	blood:
4	chr8:126160051..126162239-chr8:126445065..126446892,2	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10089963	0.88[MEX][hapmap]
rs10093813	0.88[MEX][hapmap]
rs10094316	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106942	0.80[CHB][hapmap]
rs10112218	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986135	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11995484	0.80[CHB][hapmap];0.85[GIH][hapmap]
rs12542820	0.81[CHB][hapmap]
rs12544146	0.86[LWK][hapmap];0.88[YRI][hapmap]
rs13249982	0.83[CHB][hapmap]
rs2384859	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2891630	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];0.80[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4300023	0.80[CHB][hapmap]
rs4330708	0.80[CHB][hapmap];0.85[GIH][hapmap]
rs4870935	1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs4871574	0.80[CHB][hapmap];0.82[GIH][hapmap]
rs5007394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470338	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6470342	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6470344	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6995096	1.00[CHB][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];0.86[MKK][hapmap];0.81[TSI][hapmap];0.92[ASN][1000 genomes]
rs7000553	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7460712	0.83[LWK][hapmap];0.88[YRI][hapmap]
rs7461756	0.83[CHB][hapmap];0.84[CHD][hapmap]
rs7813225	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816430	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817794	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7831515	0.80[CHB][hapmap];0.85[GIH][hapmap]
rs7836427	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9297712	0.80[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	nsv1022954	chr8:126117811-126180331	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126118000-126191800	Weak transcription	Thymus	Thymus
2	chr8:126137600-126213600	Weak transcription	Fetal Stomach	stomach
3	chr8:126138000-126163000	Weak transcription	Fetal Kidney	kidney
4	chr8:126138000-126163600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:126138000-126191000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr8:126138000-126197800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr8:126138200-126170400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:126138200-126200400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:126138400-126200200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr8:126140400-126162200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:126142600-126163000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:126142600-126231400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:126142800-126162000	Weak transcription	HSMM	muscle
14	chr8:126143000-126193200	Weak transcription	Left Ventricle	heart
15	chr8:126143200-126162200	Weak transcription	GM12878-XiMat	blood
16	chr8:126143200-126180600	Weak transcription	Fetal Muscle Leg	muscle
17	chr8:126143200-126186800	Weak transcription	Adipose Nuclei	Adipose
18	chr8:126143400-126162200	Weak transcription	HSMMtube	muscle
19	chr8:126143400-126163800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:126143800-126163800	Weak transcription	Fetal Lung	lung
21	chr8:126144400-126162000	Weak transcription	Hela-S3	cervix
22	chr8:126144600-126163800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:126144600-126168000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:126145000-126163000	Weak transcription	Dnd41	blood
25	chr8:126151600-126161800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:126154000-126175600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr8:126154200-126163400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr8:126154400-126163400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr8:126154400-126166600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:126155400-126162200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:126155800-126175800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr8:126156200-126162200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:126156200-126162200	Weak transcription	Osteobl	bone
34	chr8:126156200-126163400	Weak transcription	NH-A	brain
35	chr8:126156600-126161600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr8:126156600-126162200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr8:126156600-126163800	Weak transcription	HMEC	breast
38	chr8:126156600-126180600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:126156600-126185400	Weak transcription	Lung	lung
40	chr8:126156600-126199800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:126156800-126162200	Weak transcription	Esophagus	oesophagus
42	chr8:126156800-126163400	Weak transcription	NHEK	skin
43	chr8:126156800-126163800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:126156800-126164000	Weak transcription	K562	blood
45	chr8:126156800-126172600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:126157000-126162800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr8:126157000-126163400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:126157000-126170400	Weak transcription	Fetal Thymus	thymus
49	chr8:126157000-126172400	Weak transcription	Brain Anterior Caudate	brain
50	chr8:126157200-126164000	Weak transcription	Duodenum Mucosa	Duodenum

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