Variant report

Variant	rs6984286
Chromosome Location	chr8:62609022-62609023
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:62560449..62562337-chr8:62608012..62610402,2	K562	blood:
2	chr8:62608231..62611173-chr8:62624445..62626992,3	K562	blood:
3	chr8:62607580..62609927-chr8:62611220..62613385,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10090651	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10098691	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10099866	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10111006	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11986004	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];0.98[LWK][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11992990	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13255699	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16927652	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16927767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17205360	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17793991	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2350917	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[GIH][hapmap];0.95[LWK][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2350925	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2882536	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35337652	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35550451	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35683980	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4272369	0.85[CEU][hapmap];0.89[YRI][hapmap];0.81[AMR][1000 genomes]
rs4354302	0.95[CHB][hapmap];0.83[JPT][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4377960	0.84[CEU][hapmap];0.82[GIH][hapmap];0.89[YRI][hapmap]
rs4446731	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4515541	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4633055	1.00[ASW][hapmap];0.96[CEU][hapmap];0.87[CHB][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6471968	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6549	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs67189750	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6985520	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6990099	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7009611	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7015043	0.88[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7813834	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7830237	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7840731	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7842421	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv890950	chr8:62517963-62617027	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62534000-62612400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:62579400-62623000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr8:62590800-62612800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:62595600-62609200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:62596400-62612400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr8:62597800-62612400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:62600800-62612200	Weak transcription	Primary T cells from cord blood	blood
8	chr8:62601600-62611000	Weak transcription	Colonic Mucosa	Colon
9	chr8:62602800-62612400	Weak transcription	Brain Substantia Nigra	brain
10	chr8:62603000-62609400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr8:62603000-62609600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:62603000-62611200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:62603000-62612400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr8:62603000-62612400	Weak transcription	Aorta	Aorta
15	chr8:62603000-62612400	Weak transcription	HSMM	muscle
16	chr8:62603000-62612600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:62603000-62612600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:62603000-62612800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:62603000-62612800	Weak transcription	Brain Hippocampus Middle	brain
20	chr8:62603000-62613600	Weak transcription	Fetal Lung	lung
21	chr8:62603200-62609400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr8:62603200-62610600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr8:62603200-62610800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:62604200-62611200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:62604200-62614000	Transcr. at gene 5' and 3'	A549	lung
26	chr8:62604400-62610600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:62604600-62612400	Weak transcription	Fetal Heart	heart
28	chr8:62605400-62612400	Enhancers	K562	blood
29	chr8:62605800-62612400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr8:62605800-62612400	Weak transcription	Spleen	Spleen
31	chr8:62605800-62612600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:62605800-62612800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:62606000-62609800	Weak transcription	HepG2	liver
34	chr8:62606000-62612600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:62606000-62613000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:62606800-62611200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:62606800-62611400	Weak transcription	NH-A	brain
38	chr8:62607000-62610000	Weak transcription	Ovary	ovary
39	chr8:62607000-62610800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:62607000-62612800	Weak transcription	HMEC	breast
41	chr8:62607200-62609400	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr8:62607200-62609800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:62607200-62610800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr8:62607200-62619000	Weak transcription	NHEK	skin
45	chr8:62607400-62609200	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr8:62607600-62609400	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr8:62607600-62609600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr8:62607600-62609800	Enhancers	Adipose Nuclei	Adipose
49	chr8:62607800-62609200	Enhancers	GM12878-XiMat	blood
50	chr8:62607800-62610600	Enhancers	Left Ventricle	heart

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