Variant report

Variant	rs2027763
Chromosome Location	chr11:73035799-73035800
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73035604..73038970-chr11:73047692..73050704,4	K562	blood:
2	chr11:73034172..73036801-chr11:73094770..73096669,2	MCF-7	breast:
3	chr11:73034868..73037112-chr11:73112469..73114530,2	MCF-7	breast:
4	chr11:73035604..73038970-chr11:73047692..73050704,3	K562	blood:

Extended variants
information (count: 114 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs1002126	1.00[JPT][hapmap]
rs1002127	0.89[CEU][hapmap]
rs10047442	0.85[CHB][hapmap]
rs10793060	0.85[CHB][hapmap]
rs10898917	1.00[ASN][1000 genomes]
rs10898920	0.85[CHB][hapmap]
rs11235738	1.00[JPT][hapmap]
rs11235745	1.00[JPT][hapmap]
rs11235746	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11235759	1.00[JPT][hapmap]
rs11235770	0.89[CEU][hapmap];0.82[CHB][hapmap]
rs11235775	1.00[JPT][hapmap]
rs11820037	0.96[ASN][1000 genomes]
rs11820929	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11821094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11823913	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11823923	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11824050	0.96[ASN][1000 genomes]
rs11824614	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11826896	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11826909	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11827650	0.96[ASN][1000 genomes]
rs11828904	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12269884	1.00[JPT][hapmap]
rs12274589	1.00[JPT][hapmap]
rs12275766	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12282282	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12282790	1.00[JPT][hapmap]
rs12288753	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12290623	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12290835	1.00[JPT][hapmap]
rs12293998	0.96[ASN][1000 genomes]
rs12294659	0.96[ASN][1000 genomes]
rs17244596	0.89[CEU][hapmap]
rs17244602	0.89[CEU][hapmap]
rs17310361	0.89[CEU][hapmap]
rs17851510	0.89[CEU][hapmap]
rs1894076	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1938777	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2027760	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2027761	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2298469	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2298807	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3741148	0.85[CHB][hapmap]
rs3741149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3741151	0.82[EUR][1000 genomes]
rs3741152	1.00[CEU][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes]
rs3825005	1.00[JPT][hapmap]
rs3933402	1.00[JPT][hapmap]
rs55771351	0.96[ASN][1000 genomes]
rs56363880	0.92[ASN][1000 genomes]
rs56397594	0.92[ASN][1000 genomes]
rs57592318	0.96[ASN][1000 genomes]
rs57893472	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58364325	0.96[ASN][1000 genomes]
rs60078907	0.85[EUR][1000 genomes]
rs60700454	0.96[ASN][1000 genomes]
rs61037777	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61131329	0.96[ASN][1000 genomes]
rs61705659	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6592519	0.96[ASN][1000 genomes]
rs6592520	0.96[ASN][1000 genomes]
rs6592521	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7101831	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7102197	1.00[JPT][hapmap];0.81[AFR][1000 genomes]
rs7102423	0.81[AFR][1000 genomes]
rs7102787	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105681	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105705	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7107905	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7113420	1.00[JPT][hapmap];0.81[YRI][hapmap]
rs7114009	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7114376	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7115055	0.89[CEU][hapmap]
rs7115605	0.96[ASN][1000 genomes]
rs7115806	1.00[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs7118982	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7119167	0.85[CHB][hapmap]
rs7122825	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7123298	1.00[JPT][hapmap]
rs7125598	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7125949	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7125978	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129663	0.82[EUR][1000 genomes]
rs7129990	0.82[CHB][hapmap]
rs7131383	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7131397	1.00[JPT][hapmap]
rs725103	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7342205	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7925226	0.89[CEU][hapmap]
rs7925573	0.85[CHB][hapmap]
rs7930454	1.00[CEU][hapmap];0.92[GIH][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs7930880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7933754	0.96[ASN][1000 genomes]
rs7934218	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7935204	0.82[CHB][hapmap]
rs7935948	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7936102	0.96[ASN][1000 genomes]
rs7938391	0.89[CEU][hapmap]
rs7941359	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7944099	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7947515	0.91[EUR][1000 genomes]
rs7949364	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7951072	0.87[CEU][hapmap]
rs7951174	0.81[ASN][1000 genomes]
rs7952686	1.00[JPT][hapmap]
rs876480	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs880317	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs947837	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9888218	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv520665	chr11:72999221-73061856	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv825993	chr11:73029209-73091929	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2027763	ARHGEF17	cis	Whole Blood	GTEx

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73024400-73037000	Enhancers	Placenta	Placenta
2	chr11:73024800-73037000	Genic enhancers	Fetal Intestine Small	intestine
3	chr11:73025400-73037200	Enhancers	Left Ventricle	heart
4	chr11:73025800-73038400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:73026400-73036800	Enhancers	Fetal Heart	heart
6	chr11:73026600-73039600	Genic enhancers	Fetal Stomach	stomach
7	chr11:73028400-73039000	Enhancers	Rectal Smooth Muscle	rectum
8	chr11:73028600-73037000	Enhancers	Right Ventricle	heart
9	chr11:73030400-73036200	Enhancers	Lung	lung
10	chr11:73030600-73037000	Enhancers	Ovary	ovary
11	chr11:73030800-73036800	Enhancers	Primary hematopoietic stem cells	blood
12	chr11:73030800-73037000	Enhancers	Esophagus	oesophagus
13	chr11:73030800-73039000	Enhancers	Fetal Lung	lung
14	chr11:73030800-73040000	Enhancers	Right Atrium	heart
15	chr11:73031000-73037200	Enhancers	Colonic Mucosa	Colon
16	chr11:73031200-73037000	Enhancers	NHDF-Ad	bronchial
17	chr11:73031400-73036000	Enhancers	NH-A	brain
18	chr11:73031400-73036600	Enhancers	Fetal Muscle Trunk	muscle
19	chr11:73031600-73036600	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr11:73031800-73035800	Enhancers	HUVEC	blood vessel
21	chr11:73031800-73036000	Enhancers	Brain Anterior Caudate	brain
22	chr11:73031800-73036400	Enhancers	Duodenum Mucosa	Duodenum
23	chr11:73031800-73036600	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr11:73031800-73037000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr11:73031800-73037000	Enhancers	Spleen	Spleen
26	chr11:73031800-73038800	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr11:73031800-73042200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr11:73032000-73036000	Enhancers	Brain Cingulate Gyrus	brain
29	chr11:73032000-73037400	Enhancers	Brain Hippocampus Middle	brain
30	chr11:73032200-73036600	Enhancers	Fetal Kidney	kidney
31	chr11:73032200-73036800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:73032200-73036800	Enhancers	Stomach Mucosa	stomach
33	chr11:73032400-73038000	Weak transcription	NHEK	skin
34	chr11:73032600-73036000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:73032600-73039000	Enhancers	Brain Substantia Nigra	brain
36	chr11:73033000-73036800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr11:73033200-73036200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:73033200-73036600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr11:73033200-73045400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:73033200-73045600	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr11:73033400-73036600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:73033600-73036400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr11:73033800-73036600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
44	chr11:73033800-73036800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr11:73033800-73040400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:73034000-73036400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr11:73034000-73036400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:73034200-73036400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr11:73034200-73039400	Genic enhancers	Fetal Muscle Leg	muscle
50	chr11:73034400-73036600	Weak transcription	Brain Angular Gyrus	brain

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