Variant report

Variant	rs8067005
Chromosome Location	chr17:46119775-46119776
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46117511..46121845-chr17:46183690..46186313,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000002919	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10514938	1.00[ASN][1000 genomes]
rs11650615	1.00[ASN][1000 genomes]
rs16952265	1.00[ASN][1000 genomes]
rs16953235	1.00[ASN][1000 genomes]
rs16953382	1.00[ASN][1000 genomes]
rs16953461	1.00[ASN][1000 genomes]
rs16953925	1.00[ASN][1000 genomes]
rs16954078	1.00[ASN][1000 genomes]
rs16954204	1.00[ASN][1000 genomes]
rs41280120	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41336845	1.00[ASN][1000 genomes]
rs7216504	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823509	0.82[EUR][1000 genomes]
rs72823513	0.82[EUR][1000 genomes]
rs72823527	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823530	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823591	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823592	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72823594	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72823599	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823601	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825504	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825512	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825517	1.00[ASN][1000 genomes]
rs72825548	1.00[ASN][1000 genomes]
rs72825584	1.00[ASN][1000 genomes]
rs8073371	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46114600-46120400	Weak transcription	K562	blood
2	chr17:46115600-46120200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr17:46115600-46120400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr17:46115600-46120400	Weak transcription	Psoas Muscle	Psoas
5	chr17:46115600-46123800	Weak transcription	Brain Substantia Nigra	brain
6	chr17:46115800-46120200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr17:46115800-46120200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr17:46115800-46120200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr17:46115800-46120200	Weak transcription	NHEK	skin
10	chr17:46115800-46120400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr17:46115800-46120400	Weak transcription	HMEC	breast
12	chr17:46115800-46120400	Weak transcription	HSMMtube	muscle
13	chr17:46115800-46120600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr17:46115800-46122600	Weak transcription	Esophagus	oesophagus
15	chr17:46115800-46122800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr17:46115800-46122800	Weak transcription	Brain Anterior Caudate	brain
17	chr17:46115800-46122800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr17:46115800-46123200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr17:46115800-46123200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr17:46116000-46120200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr17:46116000-46120200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr17:46116000-46120200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr17:46116000-46120400	Weak transcription	HSMM	muscle
24	chr17:46116000-46120400	Weak transcription	Osteobl	bone
25	chr17:46116000-46122600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr17:46116000-46122600	Weak transcription	NH-A	brain
27	chr17:46116000-46123000	Weak transcription	NHLF	lung
28	chr17:46116000-46124000	Weak transcription	Brain Hippocampus Middle	brain
29	chr17:46116200-46120200	Weak transcription	NHDF-Ad	bronchial
30	chr17:46116200-46120400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr17:46117000-46122600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr17:46119200-46121400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr17:46119400-46123400	Weak transcription	A549	lung
34	chr17:46119400-46123800	Weak transcription	Primary hematopoietic stem cells	blood

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