Variant report

Variant	rs7605409
Chromosome Location	chr2:73504940-73504941
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73499117..73502742-chr2:73504775..73508729,6	K562	blood:
2	chr2:73500262..73502727-chr2:73503809..73506884,3	MCF-7	breast:
3	chr2:73504762..73506328-chr2:73515515..73517545,2	K562	blood:
4	chr2:73499117..73501247-chr2:73503834..73506275,2	K562	blood:
5	chr2:73504454..73507164-chr2:73509370..73512645,3	K562	blood:
6	chr2:73502764..73505603-chr2:73509970..73511758,2	MCF-7	breast:
7	chr2:73494870..73498347-chr2:73498508..73505707,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163013	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10496189	1.00[ASN][1000 genomes]
rs11126394	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11890811	1.00[ASN][1000 genomes]
rs12475442	1.00[ASN][1000 genomes]
rs12475618	1.00[ASN][1000 genomes]
rs12479243	1.00[ASN][1000 genomes]
rs1358452	1.00[ASN][1000 genomes]
rs1403283	1.00[ASN][1000 genomes]
rs17009036	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17009051	1.00[ASN][1000 genomes]
rs17009061	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17009070	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1881244	1.00[ASN][1000 genomes]
rs2140194	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28730853	1.00[ASN][1000 genomes]
rs36057913	1.00[ASN][1000 genomes]
rs55778379	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60130127	1.00[ASN][1000 genomes]
rs61581348	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6546814	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6706333	1.00[ASN][1000 genomes]
rs6711285	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6718672	1.00[ASN][1000 genomes]
rs6735139	1.00[ASN][1000 genomes]
rs7558613	1.00[ASN][1000 genomes]
rs7571147	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7577699	1.00[ASN][1000 genomes]
rs7587537	1.00[ASN][1000 genomes]
rs7599369	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7603754	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013190	chr2:73489679-73572643	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73481800-73510000	Weak transcription	K562	blood
2	chr2:73496800-73510400	Weak transcription	Ovary	ovary
3	chr2:73497000-73510000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:73497000-73510200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:73497000-73510400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:73497000-73510400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:73497000-73511000	Weak transcription	Gastric	stomach
8	chr2:73497200-73509800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:73497200-73510200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:73497200-73510200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr2:73497200-73510200	Weak transcription	Brain Anterior Caudate	brain
12	chr2:73497200-73510200	Weak transcription	Fetal Thymus	thymus
13	chr2:73497200-73510600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:73497400-73509600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:73497400-73509800	Weak transcription	Hela-S3	cervix
16	chr2:73497400-73510000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:73497400-73510400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:73497400-73510400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:73497400-73511000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:73497600-73510400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr2:73497600-73510400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:73497800-73510200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr2:73497800-73510400	Weak transcription	Primary T cells from cord blood	blood
24	chr2:73498000-73510200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr2:73498400-73510200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr2:73498400-73510200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr2:73499800-73510000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:73499800-73510400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:73500800-73510200	Weak transcription	Spleen	Spleen
30	chr2:73501400-73507600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr2:73501400-73510000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr2:73501400-73510600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr2:73502000-73509600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr2:73503400-73505400	Strong transcription	HepG2	liver
35	chr2:73503800-73510200	Weak transcription	Esophagus	oesophagus
36	chr2:73504000-73505000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr2:73504000-73505200	Strong transcription	GM12878-XiMat	blood
38	chr2:73504000-73505400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:73504000-73505800	Strong transcription	Primary B cells from cord blood	blood
40	chr2:73504200-73505000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:73504200-73506800	Strong transcription	Dnd41	blood
42	chr2:73504200-73509600	Weak transcription	Brain Germinal Matrix	brain
43	chr2:73504400-73505000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:73504400-73506200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:73504400-73510400	Weak transcription	Pancreas	Pancrea
46	chr2:73504600-73510400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:73504800-73505200	ZNF genes & repeats	Aorta	Aorta

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