Variant report

Variant	rs17398646
Chromosome Location	chr8:66946079-66946080
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:66746247..66747758-chr8:66945108..66946576,12	MCF-7	breast:
2	chr8:66932752..66935770-chr8:66943969..66946424,3	MCF-7	breast:
3	chr8:66750304..66757030-chr8:66936519..66946979,24	MCF-7	breast:
4	chr8:66746467..66747404-chr8:66945615..66946504,5	MCF-7	breast:
5	chr8:66671072..66672939-chr8:66945232..66947394,2	MCF-7	breast:
6	chr8:66743264..66756293-chr8:66938648..66949139,49	MCF-7	breast:
7	chr8:66673737..66675392-chr8:66945735..66946541,4	MCF-7	breast:
8	chr8:66857677..66860314-chr8:66944682..66947632,2	MCF-7	breast:
9	chr8:66939130..66942548-chr8:66942805..66946877,6	MCF-7	breast:
10	chr8:66938865..66941643-chr8:66944661..66947406,3	MCF-7	breast:
11	chr8:66673723..66674687-chr8:66945613..66946513,4	MCF-7	breast:
12	chr8:66673165..66677231-chr8:66944474..66948432,4	MCF-7	breast:
13	chr8:66679652..66681180-chr8:66945567..66947196,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272192	Chromatin interaction
ENSG00000147570	Chromatin interaction
ENSG00000205268	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10504394	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11988168	0.87[ASN][1000 genomes]
rs11996070	0.93[ASN][1000 genomes]
rs17306842	0.93[ASN][1000 genomes]
rs17397530	1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17398569	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs17398736	1.00[JPT][hapmap]
rs59888642	0.93[ASN][1000 genomes]
rs6472239	0.93[ASN][1000 genomes]
rs7830215	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66938600-66946400	Enhancers	Fetal Thymus	thymus
2	chr8:66938600-66946600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr8:66938600-66946800	Enhancers	Primary T cells fromperipheralblood	blood
4	chr8:66938800-66946400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:66939600-66952800	Weak transcription	Psoas Muscle	Psoas
6	chr8:66942000-66948200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:66943800-66946200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:66943800-66946400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:66943800-66946400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr8:66944400-66946200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr8:66944400-66946200	Enhancers	Duodenum Mucosa	Duodenum
12	chr8:66944400-66946200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr8:66944400-66946400	Enhancers	Brain Substantia Nigra	brain
14	chr8:66944400-66946800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:66944600-66946200	Enhancers	Primary T cells from cord blood	blood
16	chr8:66944600-66946400	Enhancers	Primary hematopoietic stem cells	blood
17	chr8:66945000-66946400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:66945000-66946400	Enhancers	Brain Cingulate Gyrus	brain
19	chr8:66945000-66946800	Enhancers	Esophagus	oesophagus
20	chr8:66945200-66946200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:66945200-66946400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:66945200-66946800	Enhancers	Gastric	stomach
23	chr8:66945400-66946200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:66945400-66946200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:66945400-66946200	Flanking Active TSS	Osteobl	bone
26	chr8:66945600-66946200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr8:66945600-66946400	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr8:66945600-66946600	Weak transcription	Lung	lung
29	chr8:66945600-66951200	Weak transcription	Pancreas	Pancrea
30	chr8:66945800-66946200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:66945800-66946200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr8:66946000-66946200	Active TSS	Primary B cells from cord blood	blood
33	chr8:66946000-66946200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr8:66946000-66946200	Enhancers	NH-A	brain
35	chr8:66946000-66946200	Enhancers	NHDF-Ad	bronchial
36	chr8:66946000-66946200	Enhancers	NHLF	lung
37	chr8:66946000-66946400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:66946000-66946400	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr8:66946000-66946400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr8:66946000-66946400	Enhancers	Brain Anterior Caudate	brain
41	chr8:66946000-66946600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:66946000-66946600	Enhancers	Primary B cells from peripheral blood	blood
43	chr8:66946000-66946600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr8:66946000-66946600	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr8:66946000-66946600	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr8:66946000-66946600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:66946000-66946600	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr8:66946000-66946600	Enhancers	A549	lung
49	chr8:66946000-66946600	Enhancers	Hela-S3	cervix
50	chr8:66946000-66946600	Enhancers	HMEC	breast

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