Variant report

Variant	rs6986322
Chromosome Location	chr8:99371088-99371089
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99308262..99310290-chr8:99370211..99371951,2	MCF-7	breast:
2	chr8:99304623..99310031-chr8:99366806..99371417,6	MCF-7	breast:
3	chr8:99364130..99368810-chr8:99369067..99373271,6	MCF-7	breast:
4	chr8:99370198..99371332-chr8:99389795..99390645,3	MCF-7	breast:
5	chr8:99356606..99360601-chr8:99368413..99371833,4	MCF-7	breast:
6	chr8:99370597..99373057-chr8:99386585..99389317,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104361	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13252591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap]
rs13273214	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16896927	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28731215	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35768013	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6987159	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987414	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989037	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]
rs7006634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[AMR][1000 genomes];0.98[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];1.00[MEX][hapmap];0.86[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7842811	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7843228	0.92[AMR][1000 genomes];0.90[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];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv3392984	chr8:99371028-99371198	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

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	chr8:99368200-99371200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:99368200-99372600	Enhancers	NHDF-Ad	bronchial
5	chr8:99368400-99371200	Enhancers	Fetal Muscle Leg	muscle
6	chr8:99369000-99371400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:99369400-99371200	Enhancers	Fetal Muscle Trunk	muscle
8	chr8:99369600-99371200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:99369800-99373400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:99370200-99371200	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr8:99370400-99371200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr8:99370400-99371400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:99370400-99371400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:99370400-99371400	Enhancers	Placenta	Placenta
15	chr8:99370400-99371400	Enhancers	Placenta Amnion	Placenta Amnion
16	chr8:99370400-99371400	Enhancers	HMEC	breast
17	chr8:99370400-99371400	Flanking Active TSS	Osteobl	bone
18	chr8:99370400-99372600	Enhancers	Left Ventricle	heart
19	chr8:99370600-99371200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:99370600-99371200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:99370600-99371200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr8:99370600-99371200	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr8:99370600-99371200	Enhancers	GM12878-XiMat	blood
24	chr8:99370600-99371200	Flanking Active TSS	Hela-S3	cervix
25	chr8:99370600-99371400	Flanking Active TSS	HUVEC	blood vessel
26	chr8:99370800-99371200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:99370800-99371200	Active TSS	Aorta	Aorta
28	chr8:99370800-99371200	Enhancers	HSMMtube	muscle
29	chr8:99370800-99371400	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr8:99370800-99371400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:99370800-99371400	Flanking Active TSS	NH-A	brain
32	chr8:99370800-99372000	Weak transcription	K562	blood
33	chr8:99370800-99374000	Weak transcription	Fetal Stomach	stomach
34	chr8:99370800-99374200	Weak transcription	Gastric	stomach
35	chr8:99371000-99371200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:99371000-99371200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:99371000-99371400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:99371000-99371400	Active TSS	A549	lung
39	chr8:99371000-99371400	Enhancers	NHEK	skin
40	chr8:99371000-99371600	Enhancers	NHLF	lung
41	chr8:99371000-99373400	Weak transcription	Right Atrium	heart
42	chr8:99371000-99373800	Weak transcription	Ovary	ovary
43	chr8:99371000-99373800	Weak transcription	Right Ventricle	heart
44	chr8:99371000-99374000	Weak transcription	Esophagus	oesophagus
45	chr8:99371000-99374000	Weak transcription	Stomach Mucosa	stomach
46	chr8:99371000-99374000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr8:99371000-99374200	Weak transcription	Lung	lung
48	chr8:99371000-99375400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr8:99371000-99376400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr8:99371000-99376800	Weak transcription	Duodenum Mucosa	Duodenum

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