Variant report

Variant	rs7941359
Chromosome Location	chr11:73158119-73158120
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr11:73158107-73158148	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000255786	TF binding region

Extended variants
information (count: 104 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs1002126	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1002127	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10501411	0.89[CEU][hapmap]
rs11235738	1.00[JPT][hapmap]
rs11235745	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11235746	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11235759	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs11235770	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11235775	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11235809	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.91[ASN][1000 genomes]
rs11544310	0.88[EUR][1000 genomes]
rs11820929	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11821094	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11823913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11823923	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11824614	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11826896	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs11826909	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11828904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12269884	1.00[JPT][hapmap]
rs12274589	1.00[JPT][hapmap]
rs12275766	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12276892	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.86[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12277924	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12282282	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12282790	1.00[JPT][hapmap]
rs12285885	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.91[ASN][1000 genomes]
rs12288753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12290623	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12290701	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12290835	1.00[JPT][hapmap]
rs17132115	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17244596	1.00[CEU][hapmap]
rs17244602	1.00[CEU][hapmap]
rs17244616	1.00[CEU][hapmap]
rs17310361	1.00[CEU][hapmap]
rs17310374	1.00[CEU][hapmap]
rs17851510	1.00[CEU][hapmap];0.90[GIH][hapmap];0.92[TSI][hapmap];0.88[EUR][1000 genomes]
rs1894076	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1938777	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2027760	0.89[CEU][hapmap]
rs2027761	0.89[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs2027763	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2298469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2298807	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs3741149	0.89[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs3741152	0.89[CEU][hapmap]
rs3825005	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs3933402	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs5004964	0.87[ASN][1000 genomes]
rs57354084	0.83[EUR][1000 genomes]
rs58334887	0.81[EUR][1000 genomes]
rs58573166	0.88[AMR][1000 genomes]
rs59806295	0.83[ASN][1000 genomes]
rs60860405	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61516411	0.83[ASN][1000 genomes]
rs6592521	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7101831	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7102197	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs7105681	0.89[CEU][hapmap]
rs7110369	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs7112924	0.88[EUR][1000 genomes]
rs7113420	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs7114009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7114376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7115055	1.00[CEU][hapmap]
rs7115806	0.89[CEU][hapmap]
rs7118982	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7122825	0.89[CEU][hapmap]
rs7123298	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7123985	0.94[ASW][hapmap];1.00[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];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7125598	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7125949	0.89[CEU][hapmap]
rs7125978	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs7129990	0.94[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];0.88[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7131383	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7131397	1.00[JPT][hapmap]
rs724111	1.00[CEU][hapmap]
rs725103	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7342205	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs73543000	0.82[EUR][1000 genomes]
rs73544710	0.83[EUR][1000 genomes]
rs73544711	0.81[EUR][1000 genomes]
rs73544716	0.81[EUR][1000 genomes]
rs73544720	0.81[EUR][1000 genomes]
rs7925226	1.00[CEU][hapmap]
rs7927344	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7930454	0.89[CEU][hapmap]
rs7930880	0.89[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs7934218	0.94[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];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7935948	0.89[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];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7938391	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7944099	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7944346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7945825	1.00[CEU][hapmap]
rs7951072	1.00[CEU][hapmap]
rs7952686	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs876480	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs880317	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs947837	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs9888218	1.00[JPT][hapmap]

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	nsv508641	chr11:73149281-73235528	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7941359	ARHGEF17	cis	multi-tissue	Pritchard
rs7941359	P2RY2	cis	cerebellum	SCAN
rs7941359	ARHGEF17	cis	Whole Blood	GTEx

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73122400-73163200	Weak transcription	Aorta	Aorta
2	chr11:73123800-73209600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:73131000-73190000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr11:73132600-73162600	Weak transcription	Primary B cells from cord blood	blood
5	chr11:73138000-73176800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:73139200-73177800	Weak transcription	Fetal Thymus	thymus
7	chr11:73141600-73173600	Weak transcription	Pancreas	Pancrea
8	chr11:73141800-73179000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:73141800-73181400	Weak transcription	Dnd41	blood
10	chr11:73141800-73183000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:73141800-73231600	Weak transcription	Thymus	Thymus
12	chr11:73148000-73182000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:73150000-73172400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:73150000-73175800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:73150400-73160600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:73150400-73161000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr11:73150400-73165600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:73150400-73172200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr11:73150400-73178800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:73150600-73163400	Weak transcription	Fetal Muscle Leg	muscle
21	chr11:73150600-73163400	Weak transcription	Fetal Stomach	stomach
22	chr11:73150600-73164400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:73151000-73187000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr11:73155600-73165000	Weak transcription	Brain Substantia Nigra	brain
25	chr11:73155600-73165600	Weak transcription	Brain Hippocampus Middle	brain
26	chr11:73155600-73181200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr11:73155800-73161400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:73155800-73171800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:73156000-73187800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:73156600-73158200	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr11:73156800-73158200	Enhancers	Fetal Heart	heart
32	chr11:73157000-73160800	Weak transcription	Adipose Nuclei	Adipose
33	chr11:73157000-73167600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr11:73157400-73158200	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr11:73157400-73158600	Enhancers	Psoas Muscle	Psoas
36	chr11:73157600-73158200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr11:73157600-73158400	Enhancers	Small Intestine	intestine
38	chr11:73157600-73158600	Enhancers	Left Ventricle	heart
39	chr11:73157600-73158600	Enhancers	Right Atrium	heart
40	chr11:73157600-73164400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:73157800-73158200	Enhancers	Ovary	ovary
42	chr11:73157800-73158200	Enhancers	Right Ventricle	heart
43	chr11:73157800-73163200	Weak transcription	Fetal Intestine Small	intestine
44	chr11:73157800-73166000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr11:73157800-73170000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr11:73157800-73171800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr11:73157800-73172000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:73157800-73172000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:73157800-73172200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr11:73157800-73172800	Weak transcription	Duodenum Mucosa	Duodenum

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