Variant report

Variant	rs6989037
Chromosome Location	chr8:99373167-99373168
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99371126..99375307-chr8:99376656..99381075,4	K562	blood:
2	chr8:99373069..99375307-chr8:99379575..99381805,2	K562	blood:
3	chr8:99364130..99368810-chr8:99369067..99373271,6	MCF-7	breast:
4	chr8:99304426..99306642-chr8:99371126..99373408,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104361	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13252591	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.92[TSI][hapmap];0.86[YRI][hapmap]
rs13273214	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16896927	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28731215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35768013	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6986322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.92[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987159	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987414	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7006634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.83[MKK][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7008701	0.88[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7842811	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7843228	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7843256	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831406	chr8:99290745-99482076	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv891217	chr8:99346537-99391285	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99363600-99373800	Weak transcription	Pancreas	Pancrea
2	chr8:99367400-99377000	Enhancers	Fetal Lung	lung
3	chr8:99369800-99373400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:99370800-99374000	Weak transcription	Fetal Stomach	stomach
5	chr8:99370800-99374200	Weak transcription	Gastric	stomach
6	chr8:99371000-99373400	Weak transcription	Right Atrium	heart
7	chr8:99371000-99373800	Weak transcription	Ovary	ovary
8	chr8:99371000-99373800	Weak transcription	Right Ventricle	heart
9	chr8:99371000-99374000	Weak transcription	Esophagus	oesophagus
10	chr8:99371000-99374000	Weak transcription	Stomach Mucosa	stomach
11	chr8:99371000-99374000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:99371000-99374200	Weak transcription	Lung	lung
13	chr8:99371000-99375400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:99371000-99376400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:99371000-99376800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr8:99371000-99376800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:99371200-99373800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr8:99371200-99374000	Weak transcription	Fetal Muscle Leg	muscle
19	chr8:99371200-99374200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:99371200-99375000	Weak transcription	GM12878-XiMat	blood
21	chr8:99371200-99377000	Weak transcription	Aorta	Aorta
22	chr8:99371400-99373800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:99371400-99373800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:99371400-99373800	Weak transcription	HMEC	breast
25	chr8:99371400-99374000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:99371400-99374000	Weak transcription	Adipose Nuclei	Adipose
27	chr8:99371400-99374200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:99371400-99374200	Weak transcription	NH-A	brain
29	chr8:99371400-99374400	Weak transcription	Placenta	Placenta
30	chr8:99371400-99374600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:99371400-99374600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:99371400-99376400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:99371400-99376400	Weak transcription	NHEK	skin
34	chr8:99371400-99376600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr8:99371600-99373800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:99372000-99373200	Enhancers	K562	blood
37	chr8:99372200-99373600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:99372200-99373800	Weak transcription	NHLF	lung
39	chr8:99372400-99373400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:99372400-99373800	Weak transcription	Osteobl	bone
41	chr8:99372400-99376600	Enhancers	Fetal Heart	heart
42	chr8:99372600-99373800	Weak transcription	Left Ventricle	heart
43	chr8:99372600-99373800	Weak transcription	NHDF-Ad	bronchial
44	chr8:99373000-99376400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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