Variant report

Variant	rs7931767
Chromosome Location	chr11:73239207-73239208
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	chr11:73231178..73234417-chr11:73236795..73240578,4	MCF-7	breast:
2	chr11:73234270..73236131-chr11:73239079..73240678,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10501411	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11544311	0.83[AMR][1000 genomes]
rs11820577	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11822984	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12277924	0.82[EUR][1000 genomes]
rs12290785	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17244596	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17244602	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17244616	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17310361	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17310374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56742470	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56857598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56884659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57491850	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57673166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58334887	1.00[ASN][1000 genomes]
rs58564192	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592526	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7101561	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110369	1.00[ASN][1000 genomes]
rs7114376	0.80[EUR][1000 genomes]
rs7115055	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129546	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs724111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73543000	1.00[ASN][1000 genomes]
rs73544710	1.00[ASN][1000 genomes]
rs73544711	1.00[ASN][1000 genomes]
rs73544716	1.00[ASN][1000 genomes]
rs73544720	1.00[ASN][1000 genomes]
rs73544729	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73544767	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73544783	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73546720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73546735	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548688	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548693	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73550316	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930907	0.88[AFR][1000 genomes]
rs7933355	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935948	0.82[EUR][1000 genomes]
rs7938391	0.82[EUR][1000 genomes]
rs7944346	0.82[EUR][1000 genomes]
rs7945825	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950375	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7951072	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1048171	chr11:73210060-73271831	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7931767	ARHGEF17	cis	Whole Blood	GTEx

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73202400-73240000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:73205000-73239600	Weak transcription	Primary B cells from cord blood	blood
3	chr11:73205800-73241400	Weak transcription	Pancreas	Pancrea
4	chr11:73219200-73241400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr11:73221800-73239600	Weak transcription	Liver	Liver
6	chr11:73226400-73239600	Weak transcription	Fetal Stomach	stomach
7	chr11:73230800-73239600	Weak transcription	NHDF-Ad	bronchial
8	chr11:73232600-73239800	Weak transcription	Thymus	Thymus
9	chr11:73232600-73249400	Weak transcription	Brain Germinal Matrix	brain
10	chr11:73233000-73239600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:73233000-73239600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr11:73233000-73239600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:73233000-73240000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr11:73233000-73241400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr11:73235200-73239600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr11:73236400-73239600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr11:73236600-73239800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr11:73236600-73240400	Enhancers	Dnd41	blood
19	chr11:73236600-73244200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr11:73237400-73239600	Enhancers	Brain Hippocampus Middle	brain
21	chr11:73237400-73239600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr11:73237400-73239600	Enhancers	Brain Substantia Nigra	brain
23	chr11:73237400-73240000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr11:73237400-73240400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr11:73237600-73240400	Enhancers	Primary T cells from cord blood	blood
26	chr11:73237800-73244200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr11:73238000-73239400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr11:73238000-73239400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:73238000-73239600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:73238000-73239600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr11:73238000-73239600	Enhancers	Brain Angular Gyrus	brain
32	chr11:73238000-73239600	Enhancers	Brain Cingulate Gyrus	brain
33	chr11:73238000-73239600	Enhancers	Colon Smooth Muscle	Colon
34	chr11:73238000-73239600	Enhancers	HMEC	breast
35	chr11:73238000-73240200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr11:73238000-73240400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:73238000-73240400	Enhancers	Psoas Muscle	Psoas
38	chr11:73238000-73241000	Enhancers	H9 Cell Line	embryonic stem cell
39	chr11:73238000-73241000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:73238000-73241600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr11:73238200-73239600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:73238200-73239600	Enhancers	Duodenum Mucosa	Duodenum
43	chr11:73238200-73239600	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr11:73238200-73239600	Enhancers	Stomach Mucosa	stomach
45	chr11:73238200-73239800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:73238200-73239800	Weak transcription	Fetal Kidney	kidney
47	chr11:73238200-73240200	Enhancers	Fetal Lung	lung
48	chr11:73238200-73240400	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr11:73238400-73239400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:73238400-73239600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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