Variant report

Variant	rs947837
Chromosome Location	chr11:73080405-73080406
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73073450..73075971-chr11:73080319..73082587,2	K562	blood:
2	chr11:73077441..73084740-chr11:73085851..73089070,9	MCF-7	breast:
3	chr11:73079168..73080980-chr11:73086262..73088636,4	MCF-7	breast:
4	chr11:73080164..73081706-chr11:73085132..73087925,2	K562	blood:
5	chr11:73076245..73078869-chr11:73079244..73081978,2	K562	blood:
6	chr11:73078824..73081761-chr11:73082100..73086091,3	MCF-7	breast:
7	chr11:73071656..73075971-chr11:73080166..73082943,5	K562	blood:
8	chr11:73074976..73078822-chr11:73079717..73084977,8	MCF-7	breast:
9	chr11:73080164..73083221-chr11:73084640..73087925,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110237	Chromatin interaction
ENSG00000054967	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs1002126	1.00[JPT][hapmap]
rs10047442	0.85[CHB][hapmap]
rs10793060	0.85[CHB][hapmap]
rs10898917	0.96[ASN][1000 genomes]
rs10898920	0.85[CHB][hapmap]
rs10898925	0.85[CHB][hapmap]
rs11235729	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[ASN][1000 genomes]
rs11820929	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11821094	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11823913	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11823923	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11824050	1.00[ASN][1000 genomes]
rs11824614	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];1.00[ASN][1000 genomes]
rs11826896	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11826909	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11827650	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[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12282282	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];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	1.00[ASN][1000 genomes]
rs12294659	1.00[ASN][1000 genomes]
rs12295744	0.85[CHB][hapmap]
rs12421053	1.00[CHB][hapmap]
rs1894076	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];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	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2366780	0.85[CHB][hapmap]
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]
rs55771351	1.00[ASN][1000 genomes]
rs56363880	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56397594	0.96[ASN][1000 genomes]
rs57592318	1.00[ASN][1000 genomes]
rs57893472	0.96[ASN][1000 genomes]
rs58364325	1.00[ASN][1000 genomes]
rs60700454	1.00[ASN][1000 genomes]
rs61037777	0.96[ASN][1000 genomes]
rs61131329	1.00[ASN][1000 genomes]
rs61705659	0.92[ASN][1000 genomes]
rs6592519	1.00[ASN][1000 genomes]
rs6592520	1.00[ASN][1000 genomes]
rs6592521	1.00[CHB][hapmap];1.00[JPT][hapmap];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	0.96[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	1.00[ASN][1000 genomes]
rs7118982	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7119167	0.85[CHB][hapmap]
rs7122560	0.82[ASN][1000 genomes]
rs7123298	1.00[JPT][hapmap]
rs7123985	0.82[CHB][hapmap];1.00[JPT][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	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];1.00[ASN][1000 genomes]
rs7131397	1.00[JPT][hapmap]
rs725103	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7342205	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7925573	0.85[CHB][hapmap]
rs7930880	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7933754	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[ASN][1000 genomes]
rs7941359	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7944099	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7944346	1.00[JPT][hapmap]
rs7949364	0.96[ASN][1000 genomes]
rs7950002	0.85[CHB][hapmap]
rs7952686	1.00[JPT][hapmap]
rs876480	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];1.00[ASN][1000 genomes]
rs880317	0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
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	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
4	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
rs947837	ARHGEF17	cis	multi-tissue	Pritchard
rs947837	ANO1	cis	parietal	SCAN

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73054600-73081800	Strong transcription	Fetal Intestine Small	intestine
2	chr11:73059200-73087400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:73059800-73083000	Weak transcription	Fetal Heart	heart
4	chr11:73062600-73082200	Strong transcription	Fetal Stomach	stomach
5	chr11:73062600-73087400	Weak transcription	Liver	Liver
6	chr11:73063400-73080600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:73063400-73081200	Strong transcription	Fetal Intestine Large	intestine
8	chr11:73063600-73081000	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:73063600-73081400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:73063800-73081000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:73063800-73081000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:73063800-73081400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:73066600-73081400	Strong transcription	Placenta Amnion	Placenta Amnion
14	chr11:73068800-73081000	Strong transcription	Fetal Brain Female	brain
15	chr11:73069800-73081000	Strong transcription	Brain Germinal Matrix	brain
16	chr11:73070800-73081000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:73070800-73081600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:73071400-73080800	Strong transcription	Osteobl	bone
19	chr11:73071400-73081200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:73071600-73081000	Strong transcription	NHLF	lung
21	chr11:73071800-73081000	Strong transcription	Stomach Smooth Muscle	stomach
22	chr11:73072400-73087000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr11:73073200-73087000	Weak transcription	HMEC	breast
24	chr11:73073800-73087000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:73074000-73086600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:73074200-73086600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:73075200-73086800	Weak transcription	Brain Substantia Nigra	brain
28	chr11:73075600-73080800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:73076600-73086400	Weak transcription	Hela-S3	cervix
30	chr11:73077000-73083200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:73077200-73085000	Weak transcription	Brain Angular Gyrus	brain
32	chr11:73077200-73085000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr11:73077200-73086600	Weak transcription	A549	lung
34	chr11:73077200-73086800	Weak transcription	Pancreas	Pancrea
35	chr11:73077200-73087000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr11:73077200-73087000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:73077200-73087000	Weak transcription	Esophagus	oesophagus
38	chr11:73077200-73087000	Weak transcription	Fetal Kidney	kidney
39	chr11:73077400-73085400	Weak transcription	Brain Hippocampus Middle	brain
40	chr11:73077600-73086600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr11:73077600-73086800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:73077600-73086800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:73077600-73086800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr11:73077600-73087000	Weak transcription	Fetal Brain Male	brain
45	chr11:73077600-73087000	Weak transcription	NH-A	brain
46	chr11:73077800-73083200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr11:73077800-73083200	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr11:73077800-73086600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:73077800-73087000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:73078400-73083200	Weak transcription	Primary monocytes fromperipheralblood	blood

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