Variant report

Variant	rs7342205
Chromosome Location	chr11:73044351-73044352
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73044251..73046062-chr11:73085931..73088369,2	MCF-7	breast:
2	chr11:73032442..73034881-chr11:73042060..73045731,3	K562	blood:
3	chr11:73042602..73045462-chr11:73088644..73091188,2	K562	blood:
4	chr11:73038301..73040651-chr11:73040971..73045246,4	K562	blood:
5	chr11:72992008..72994369-chr11:73042375..73045074,2	K562	blood:
6	chr11:73020988..73023287-chr11:73043427..73045188,2	K562	blood:
7	chr11:73033372..73035605-chr11:73043238..73045918,2	K562	blood:
8	chr11:73041736..73046932-chr11:73048658..73054905,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110237	Chromatin interaction
ENSG00000054967	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs1002126	1.00[JPT][hapmap]
rs10047442	0.85[CHB][hapmap]
rs10793060	0.85[CHB][hapmap]
rs10898917	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10898920	0.85[CHB][hapmap]
rs11235729	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
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	0.82[CHB][hapmap]
rs11235775	1.00[JPT][hapmap]
rs11820037	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11820929	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11821094	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11823913	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11823923	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11824050	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11824614	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.96[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11826896	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11826909	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11827650	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11828904	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12269884	1.00[JPT][hapmap]
rs12274589	1.00[JPT][hapmap]
rs12275766	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282282	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282790	1.00[JPT][hapmap]
rs12288753	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12290623	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12290835	1.00[JPT][hapmap]
rs12293998	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12294659	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894076	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938777	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2027760	0.96[ASN][1000 genomes]
rs2027761	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2027763	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2298469	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2298807	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3741148	0.85[CHB][hapmap]
rs3741149	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3825005	1.00[JPT][hapmap]
rs3933402	1.00[JPT][hapmap];0.85[LWK][hapmap]
rs55771351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56363880	0.96[ASN][1000 genomes]
rs56397594	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56801796	0.81[EUR][1000 genomes]
rs57592318	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57893472	0.96[ASN][1000 genomes]
rs58364325	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60700454	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61037777	0.96[ASN][1000 genomes]
rs61131329	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61705659	0.92[ASN][1000 genomes]
rs6592519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592521	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7101831	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7102197	1.00[JPT][hapmap]
rs7102787	0.96[ASN][1000 genomes]
rs7105681	0.96[ASN][1000 genomes]
rs7105705	0.96[ASN][1000 genomes]
rs7107905	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7113420	1.00[JPT][hapmap]
rs7114009	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7114376	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7115605	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118982	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7119167	0.85[CHB][hapmap]
rs7122560	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7123298	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs7125598	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7125978	0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7129990	0.82[CHB][hapmap]
rs7131383	0.94[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131397	1.00[JPT][hapmap]
rs725103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925573	0.85[CHB][hapmap]
rs7930880	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7933754	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7934218	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7935204	0.82[CHB][hapmap]
rs7935948	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7936102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941359	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7944099	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7944346	1.00[JPT][hapmap]
rs7949364	0.96[ASN][1000 genomes]
rs7952686	1.00[JPT][hapmap]
rs876480	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs880317	0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs947837	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9888218	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv897911	chr11:73044351-73108276	Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7342205	ARHGEF17	cis	multi-tissue	Pritchard
rs7342205	ANO1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73033200-73045400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr11:73033200-73045600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr11:73035200-73045800	Weak transcription	Fetal Brain Male	brain
4	chr11:73036600-73045000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr11:73037400-73046200	Weak transcription	Brain Angular Gyrus	brain
6	chr11:73038000-73047000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:73038600-73047000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:73038800-73047000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:73039000-73045000	Weak transcription	HMEC	breast
10	chr11:73039200-73044800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:73039600-73046400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:73040000-73045000	Weak transcription	GM12878-XiMat	blood
13	chr11:73040400-73046800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:73040600-73047000	Enhancers	NHDF-Ad	bronchial
15	chr11:73040800-73045000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:73040800-73045200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:73040800-73045200	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr11:73040800-73045400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:73040800-73045400	Enhancers	NH-A	brain
20	chr11:73040800-73045800	Enhancers	Rectal Smooth Muscle	rectum
21	chr11:73040800-73046000	Enhancers	Fetal Lung	lung
22	chr11:73040800-73047000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr11:73040800-73047000	Enhancers	Fetal Kidney	kidney
24	chr11:73040800-73047200	Enhancers	Fetal Heart	heart
25	chr11:73041000-73045200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:73041000-73045800	Enhancers	Adipose Nuclei	Adipose
27	chr11:73041000-73046600	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr11:73041000-73047000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr11:73041000-73047000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr11:73041400-73044400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:73041400-73045800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:73041400-73047000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:73041400-73047000	Enhancers	Fetal Muscle Leg	muscle
34	chr11:73041400-73047000	Enhancers	Placenta	Placenta
35	chr11:73041600-73044400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:73041600-73045000	Enhancers	HSMM	muscle
37	chr11:73041600-73045600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr11:73041600-73046200	Enhancers	Ovary	ovary
39	chr11:73041600-73046400	Enhancers	Left Ventricle	heart
40	chr11:73041600-73046600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:73041600-73046800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:73041600-73047000	Enhancers	Right Ventricle	heart
43	chr11:73041600-73047000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr11:73041800-73044600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
45	chr11:73041800-73045800	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr11:73041800-73046600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:73042000-73045200	Enhancers	A549	lung
48	chr11:73042000-73047000	Genic enhancers	Fetal Stomach	stomach
49	chr11:73042200-73044400	Genic enhancers	Fetal Muscle Trunk	muscle
50	chr11:73042200-73044800	Enhancers	Aorta	Aorta

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