Variant report

Variant	rs2071018
Chromosome Location	chr11:10523519-10523520
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10521947..10523857-chr11:10526425..10528003,2	K562	blood:
2	chr11:10522129..10523861-chr11:10525994..10530069,4	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10437597	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10500726	0.90[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs1062912	0.84[CEU][hapmap]
rs1065052	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1074375	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1074377	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10770123	0.90[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10840431	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10840435	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10840436	0.84[ASN][1000 genomes]
rs10840443	0.84[CEU][hapmap]
rs11042876	0.84[CEU][hapmap]
rs11042882	0.83[CEU][hapmap]
rs12277871	0.84[ASN][1000 genomes]
rs12279850	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1531479	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1870951	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1964537	0.84[CEU][hapmap];0.80[GIH][hapmap]
rs1993817	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1993818	0.85[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1993819	0.90[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2054392	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2288236	0.81[CEU][hapmap]
rs34466373	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3741033	0.88[CEU][hapmap]
rs3741037	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs3741038	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3741039	1.00[ASN][1000 genomes]
rs3741041	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3781863	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4910146	1.00[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4910153	0.90[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs6484344	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7115310	0.81[CEU][hapmap]
rs7358373	0.84[CEU][hapmap]
rs746164	0.88[CEU][hapmap]
rs7951653	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	esv3340349	chr11:10519876-10524074	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv972946	chr11:10523147-10534985	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2071018	ARFIP2	cis	parietal	SCAN
rs2071018	RNF141	cis	Muscle Skeletal	GTEx
rs2071018	MRVI1	cis	normal skin	skin_eQTL
rs2071018	MRVI1	cis	multi-tissue	Pritchard

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10495000-10528000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr11:10495200-10530800	Strong transcription	Primary T cells from cord blood	blood
3	chr11:10495800-10529800	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr11:10496400-10524000	Strong transcription	Primary hematopoietic stem cells	blood
5	chr11:10496600-10529000	Strong transcription	Primary T helper cells PMA-I stimulated	--
6	chr11:10499800-10523600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:10501600-10550600	Weak transcription	Small Intestine	intestine
8	chr11:10502600-10529000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:10502600-10560800	Weak transcription	Fetal Brain Male	brain
10	chr11:10507800-10544800	Weak transcription	Fetal Kidney	kidney
11	chr11:10510400-10524800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr11:10510400-10528200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:10510600-10527800	Strong transcription	Thymus	Thymus
14	chr11:10510800-10528400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr11:10511000-10529600	Strong transcription	Fetal Thymus	thymus
16	chr11:10511000-10533200	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr11:10512400-10526200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:10512400-10526800	Strong transcription	NHEK	skin
19	chr11:10512600-10523800	Strong transcription	Primary B cells from peripheral blood	blood
20	chr11:10512600-10523800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:10512600-10525400	Weak transcription	GM12878-XiMat	blood
22	chr11:10512800-10526800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:10512800-10531600	Weak transcription	Stomach Mucosa	stomach
24	chr11:10512800-10540400	Weak transcription	Fetal Lung	lung
25	chr11:10512800-10548600	Weak transcription	Right Ventricle	heart
26	chr11:10513000-10525200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:10513000-10526800	Weak transcription	HMEC	breast
28	chr11:10513000-10531800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:10513200-10526000	Weak transcription	Psoas Muscle	Psoas
30	chr11:10513200-10527600	Weak transcription	Right Atrium	heart
31	chr11:10513200-10538000	Weak transcription	Left Ventricle	heart
32	chr11:10513400-10536000	Weak transcription	A549	lung
33	chr11:10513800-10528200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr11:10514000-10527200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:10514200-10524000	Weak transcription	NHDF-Ad	bronchial
36	chr11:10514200-10525000	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr11:10514200-10529600	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr11:10514400-10524200	Strong transcription	Gastric	stomach
39	chr11:10514400-10524600	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr11:10514400-10525200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr11:10514400-10526000	Strong transcription	Brain Anterior Caudate	brain
42	chr11:10514600-10524400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:10514600-10524600	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:10514600-10531400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr11:10514600-10535600	Weak transcription	HSMM	muscle
46	chr11:10514800-10524600	Strong transcription	Lung	lung
47	chr11:10514800-10528200	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr11:10515000-10527000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:10515000-10528200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:10515400-10523800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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