Variant report

Variant	rs9751717
Chromosome Location	chr2:110297438-110297439
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:110295767..110297906-chr2:110298255..110300414,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10496433	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11690225	0.87[AMR][1000 genomes]
rs11692886	0.87[EUR][1000 genomes]
rs1808722	0.84[EUR][1000 genomes]
rs28369323	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs28853417	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58012425	0.88[EUR][1000 genomes]
rs61215808	0.85[EUR][1000 genomes]
rs6716287	0.85[EUR][1000 genomes]
rs6735752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6752531	0.95[EUR][1000 genomes]
rs717189	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72938271	0.83[EUR][1000 genomes]
rs7568492	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7590230	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs767628	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs892464	0.88[CEU][hapmap]
rs9330316	0.87[EUR][1000 genomes]
rs9751601	0.88[EUR][1000 genomes]
rs9752350	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874780	chr2:110078080-110432886	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv2874	chr2:110289373-110333621	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1011456	chr2:110290958-110980402	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv535861	chr2:110290958-110980402	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9751717	SH3MD4	Cis_1M	lymphoblastoid	RTeQTL
rs9751717	ANKRD57	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110285000-110299200	Weak transcription	Aorta	Aorta
2	chr2:110288000-110299000	Weak transcription	Esophagus	oesophagus
3	chr2:110291000-110309400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:110291800-110309400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:110293200-110302600	Weak transcription	Fetal Lung	lung
6	chr2:110293200-110316200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:110293400-110299000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:110293400-110299200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:110293400-110299200	Weak transcription	Pancreas	Pancrea
10	chr2:110293400-110299200	Weak transcription	HSMM	muscle
11	chr2:110293400-110301200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:110293400-110303200	Weak transcription	NHLF	lung
13	chr2:110293400-110304000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:110293400-110309400	Weak transcription	Left Ventricle	heart
15	chr2:110293400-110309600	Weak transcription	Lung	lung
16	chr2:110293400-110309600	Weak transcription	NHDF-Ad	bronchial
17	chr2:110293400-110331600	Weak transcription	Right Ventricle	heart
18	chr2:110293400-110352200	Weak transcription	Gastric	stomach
19	chr2:110293600-110299000	Weak transcription	Fetal Intestine Small	intestine
20	chr2:110293600-110302600	Weak transcription	Fetal Intestine Large	intestine
21	chr2:110293600-110302600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr2:110293600-110309400	Weak transcription	Liver	Liver
23	chr2:110294000-110299000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:110295400-110302600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:110295400-110302800	Weak transcription	HMEC	breast
26	chr2:110295600-110299000	Weak transcription	Osteobl	bone
27	chr2:110295600-110299600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:110295800-110299200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:110295800-110302600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr2:110296000-110298000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:110296000-110299200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:110296000-110299200	Weak transcription	NH-A	brain
33	chr2:110296000-110299800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:110296000-110302000	Weak transcription	NHEK	skin
35	chr2:110296000-110302600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:110296000-110302600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:110296000-110302600	Weak transcription	Fetal Stomach	stomach
38	chr2:110296000-110302800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:110296000-110312200	Weak transcription	Stomach Mucosa	stomach
40	chr2:110296200-110299000	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:110296200-110302600	Weak transcription	Adipose Nuclei	Adipose
42	chr2:110296200-110302600	Weak transcription	HepG2	liver
43	chr2:110296400-110299000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:110296400-110302800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr2:110296400-110309400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr2:110296400-110309400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:110296400-110309400	Weak transcription	HSMMtube	muscle
48	chr2:110296400-110313400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:110296600-110302400	Weak transcription	Fetal Kidney	kidney
50	chr2:110296800-110302400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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