Variant report

Variant	rs7950474
Chromosome Location	chr11:46145501-46145502
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46125754..46127349-chr11:46143825..46145810,2	MCF-7	breast:
2	chr11:46028036..46029889-chr11:46143429..46146254,2	K562	blood:
3	chr11:46092605..46094562-chr11:46143473..46145813,3	K562	blood:
4	chr11:46139740..46148810-chr11:46253862..46264263,27	K562	blood:
5	chr11:46143681..46146343-chr11:46159365..46161019,2	K562	blood:
6	chr11:46141272..46145852-chr11:46256882..46262702,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254639	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10769187	0.89[CEU][hapmap];0.91[GIH][hapmap];0.83[JPT][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11038775	0.92[CEU][hapmap];0.83[JPT][hapmap];0.94[EUR][1000 genomes]
rs11038780	0.88[EUR][1000 genomes]
rs11038781	0.92[EUR][1000 genomes]
rs11601057	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12287430	0.92[EUR][1000 genomes]
rs1970848	0.95[EUR][1000 genomes]
rs7112677	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs7118159	0.92[CEU][hapmap];0.98[GIH][hapmap];0.83[JPT][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes]
rs7120013	0.97[EUR][1000 genomes]
rs7924340	0.92[CEU][hapmap];0.83[JPT][hapmap];0.92[EUR][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	esv3386885	chr11:46140826-46145624	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7950474	ARHGAP1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46141800-46148800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:46144200-46148400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr11:46144200-46148400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr11:46144200-46148400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr11:46144200-46148800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr11:46144400-46145800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr11:46144400-46146200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:46144400-46148400	Weak transcription	Primary T cells from cord blood	blood
9	chr11:46144400-46148400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr11:46144400-46148400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:46144400-46148400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr11:46144400-46148400	Weak transcription	GM12878-XiMat	blood
13	chr11:46144400-46148600	Weak transcription	NHLF	lung
14	chr11:46144400-46148800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:46144400-46148800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr11:46144400-46148800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:46144400-46152000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr11:46144600-46146400	Weak transcription	Primary B cells from cord blood	blood
19	chr11:46144800-46148000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr11:46144800-46148200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr11:46144800-46148200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:46144800-46148400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr11:46144800-46148400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr11:46144800-46148400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr11:46144800-46148600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr11:46144800-46148600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:46144800-46148800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:46144800-46148800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:46144800-46148800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:46144800-46148800	Weak transcription	Small Intestine	intestine
31	chr11:46144800-46148800	Weak transcription	Thymus	Thymus
32	chr11:46145000-46147600	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr11:46145000-46148600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:46145000-46148600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:46145000-46148600	Weak transcription	Adipose Nuclei	Adipose
36	chr11:46145000-46148600	Weak transcription	NHEK	skin
37	chr11:46145000-46148800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr11:46145200-46148000	Weak transcription	K562	blood
39	chr11:46145200-46148200	Weak transcription	Hela-S3	cervix
40	chr11:46145200-46148400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:46145200-46148400	Weak transcription	HepG2	liver
42	chr11:46145200-46148600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:46145200-46148600	Weak transcription	HMEC	breast
44	chr11:46145200-46148600	Weak transcription	NHDF-Ad	bronchial
45	chr11:46145200-46148800	Weak transcription	Osteobl	bone
46	chr11:46145400-46148200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:46145400-46148400	Weak transcription	A549	lung

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