Variant report

Variant	rs2240628
Chromosome Location	chr7:151074663-151074664
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:151068798..151071026-chr7:151072927..151076533,4	MCF-7	breast:
2	chr7:151074259..151076464-chr7:151081885..151083663,2	MCF-7	breast:
3	chr7:151072283..151074020-chr7:151074397..151076236,2	MCF-7	breast:
4	chr7:151073534..151076612-chr7:151076693..151079201,3	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10952308	0.86[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs2159158	0.83[CHD][hapmap]
rs6952675	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7778047	0.86[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs7795959	0.86[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.86[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	nsv889489	chr7:151064872-151115691	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2240628	XRCC2	cis	cerebellum	SCAN
rs2240628	TMEM176B	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:151049400-151077000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:151049400-151078000	Weak transcription	Stomach Mucosa	stomach
3	chr7:151059800-151078000	Weak transcription	HUVEC	blood vessel
4	chr7:151062400-151076600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:151063400-151076400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:151063400-151078400	Weak transcription	Right Atrium	heart
7	chr7:151064400-151077800	Strong transcription	Fetal Intestine Large	intestine
8	chr7:151064600-151076200	Strong transcription	Duodenum Mucosa	Duodenum
9	chr7:151064800-151076200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr7:151065600-151076200	Strong transcription	Ovary	ovary
11	chr7:151065600-151076200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr7:151065600-151076400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr7:151065600-151077000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr7:151065600-151077000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr7:151065600-151077200	Strong transcription	Fetal Stomach	stomach
16	chr7:151065600-151077400	Strong transcription	Stomach Smooth Muscle	stomach
17	chr7:151065600-151077800	Weak transcription	NHDF-Ad	bronchial
18	chr7:151065600-151078000	Strong transcription	Fetal Intestine Small	intestine
19	chr7:151065600-151078200	Weak transcription	NH-A	brain
20	chr7:151065800-151075800	Strong transcription	Placenta	Placenta
21	chr7:151065800-151075800	Weak transcription	HSMM	muscle
22	chr7:151065800-151076000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr7:151065800-151076800	Strong transcription	Liver	Liver
24	chr7:151065800-151078800	Weak transcription	Fetal Heart	heart
25	chr7:151065800-151080800	Weak transcription	HMEC	breast
26	chr7:151066000-151074800	Weak transcription	A549	lung
27	chr7:151066000-151075200	Strong transcription	Fetal Muscle Leg	muscle
28	chr7:151066000-151076000	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr7:151066000-151076200	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr7:151066000-151076200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:151066000-151076400	Weak transcription	K562	blood
32	chr7:151066000-151076800	Strong transcription	Fetal Thymus	thymus
33	chr7:151066000-151077000	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr7:151066000-151077200	Strong transcription	Thymus	Thymus
35	chr7:151066000-151077200	Strong transcription	Dnd41	blood
36	chr7:151066000-151077400	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr7:151066000-151078200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr7:151066000-151083200	Weak transcription	Hela-S3	cervix
39	chr7:151066400-151076000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr7:151066400-151076800	Strong transcription	Primary T cells from cord blood	blood
41	chr7:151066400-151077600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:151066400-151077600	Strong transcription	Adipose Nuclei	Adipose
43	chr7:151066800-151076000	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr7:151066800-151076000	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr7:151067800-151076000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:151068000-151076400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:151068000-151076400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:151068000-151076600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr7:151068000-151077000	Strong transcription	Lung	lung
50	chr7:151068200-151077600	Strong transcription	Fetal Brain Female	brain

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