Variant report

Variant	rs2155220
Chromosome Location	chr11:76266172-76266173
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	chr11:76265177..76267818-chr11:76279245..76281186,2	K562	blood:
2	chr11:76265376..76267987-chr11:76270130..76272636,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1044265	1.00[ASW][hapmap];0.96[CEU][hapmap];0.98[GIH][hapmap];0.93[LWK][hapmap];0.83[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10793164	0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10793167	0.91[YRI][hapmap]
rs10793169	1.00[ASW][hapmap];0.87[YRI][hapmap]
rs10793171	0.93[ASW][hapmap]
rs10899219	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10899220	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11606394	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2251075	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2508738	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2508740	0.81[ASW][hapmap]
rs2508741	0.81[ASW][hapmap]
rs2508753	0.81[AFR][1000 genomes]
rs2508755	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2508756	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2508760	1.00[ASW][hapmap];0.87[YRI][hapmap]
rs2508761	0.93[ASW][hapmap]
rs2513508	0.93[ASW][hapmap]
rs2513511	0.97[CHD][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs2513513	0.93[ASW][hapmap]
rs2513514	1.00[CHD][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs2513515	0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2513525	1.00[ASW][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs3016373	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4245443	0.93[ASW][hapmap]
rs4272809	1.00[ASW][hapmap];0.87[YRI][hapmap]
rs4300410	1.00[ASW][hapmap];0.87[YRI][hapmap]
rs4625500	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4945087	0.86[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4945090	0.83[YRI][hapmap]
rs7107058	1.00[ASW][hapmap];0.87[YRI][hapmap]
rs7926009	1.00[ASW][hapmap];0.87[YRI][hapmap]
rs7928101	0.95[JPT][hapmap]
rs7940390	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8848	0.93[ASW][hapmap]

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	nsv1050713	chr11:76147085-76267117	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2155220	ARHGEF17	cis	cerebellum	SCAN

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76254800-76269800	Weak transcription	NHDF-Ad	bronchial
2	chr11:76256000-76266400	Weak transcription	A549	lung
3	chr11:76256000-76273400	Weak transcription	Psoas Muscle	Psoas
4	chr11:76257200-76266400	Weak transcription	Brain Angular Gyrus	brain
5	chr11:76257200-76266600	Weak transcription	Small Intestine	intestine
6	chr11:76257200-76270200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:76257200-76272200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:76257400-76267800	Weak transcription	Esophagus	oesophagus
9	chr11:76257400-76269800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr11:76257400-76269800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:76257400-76270600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr11:76257400-76270800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:76257400-76271000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:76257400-76271000	Weak transcription	HSMMtube	muscle
15	chr11:76257400-76271000	Weak transcription	NHEK	skin
16	chr11:76257400-76271800	Weak transcription	Lung	lung
17	chr11:76257400-76272200	Weak transcription	Spleen	Spleen
18	chr11:76257400-76272400	Weak transcription	Ovary	ovary
19	chr11:76257800-76271400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:76258000-76270600	Weak transcription	Brain Substantia Nigra	brain
21	chr11:76258200-76270600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:76258400-76266600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:76258400-76270600	Weak transcription	Adipose Nuclei	Adipose
24	chr11:76258400-76270600	Weak transcription	NH-A	brain
25	chr11:76258600-76271600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr11:76259200-76271000	Weak transcription	Left Ventricle	heart
27	chr11:76259600-76271200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:76259800-76271200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:76260600-76271000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:76261400-76266400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:76261400-76266400	Weak transcription	Aorta	Aorta
32	chr11:76261400-76268600	Weak transcription	Fetal Muscle Leg	muscle
33	chr11:76261400-76270000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:76261400-76279200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:76261600-76270800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr11:76262000-76270600	Weak transcription	Placenta	Placenta
37	chr11:76262000-76270800	Weak transcription	Hela-S3	cervix
38	chr11:76262000-76271000	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr11:76262200-76270600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr11:76262600-76270200	Weak transcription	Osteobl	bone
41	chr11:76264200-76266400	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr11:76264200-76266800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr11:76264400-76266200	Enhancers	Duodenum Mucosa	Duodenum
44	chr11:76264400-76266600	Enhancers	Fetal Intestine Small	intestine
45	chr11:76264400-76268600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:76264600-76266400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:76264800-76266200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr11:76264800-76266200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:76264800-76266400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr11:76264800-76266600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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