Variant report

Variant	rs3118752
Chromosome Location	chr9:97052841-97052842
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	chr9:97052305..97055569-chr9:97062185..97065091,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10114209	1.00[CHB][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs10115657	1.00[ASN][1000 genomes]
rs12336524	1.00[ASN][1000 genomes]
rs12340918	0.86[YRI][hapmap];1.00[ASN][1000 genomes]
rs1887682	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1971396	0.84[AFR][1000 genomes]
rs2225184	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3118749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3118750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3118751	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3118757	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3118758	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3118759	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3118760	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3118764	1.00[ASN][1000 genomes]
rs3118767	1.00[GIH][hapmap]
rs3131905	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3131906	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3131907	0.82[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3131908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3131909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34433105	1.00[ASN][1000 genomes]
rs4578010	1.00[GIH][hapmap]
rs6479533	0.82[AFR][1000 genomes]
rs6479534	0.83[AFR][1000 genomes]
rs7041842	0.84[AFR][1000 genomes]
rs73653452	1.00[ASN][1000 genomes]
rs9409510	1.00[CHB][hapmap]
rs9696843	0.92[LWK][hapmap];0.84[MKK][hapmap];0.93[YRI][hapmap];0.84[AFR][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	nsv893592	chr9:96973995-97295269	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1046906	chr9:96999227-97239809	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2761545	chr9:97025298-97356950	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS 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 target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3118752	SORBS2	trans	lymphoblastoid	seeQTL
rs3118752	BCAS3	trans	lymphoblastoid	seeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97022200-97055200	Weak transcription	Aorta	Aorta
2	chr9:97022600-97055200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr9:97022800-97054600	Weak transcription	Pancreas	Pancrea
4	chr9:97023000-97055400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr9:97032400-97064600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:97033600-97054600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr9:97036800-97062600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:97039200-97053600	Weak transcription	Brain Hippocampus Middle	brain
9	chr9:97039200-97055000	Weak transcription	Brain Substantia Nigra	brain
10	chr9:97039200-97062600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr9:97039400-97054600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr9:97039400-97067600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr9:97040000-97064600	Weak transcription	Brain Germinal Matrix	brain
14	chr9:97041200-97054400	Weak transcription	NHDF-Ad	bronchial
15	chr9:97041200-97054600	Weak transcription	Stomach Mucosa	stomach
16	chr9:97041200-97065400	Weak transcription	Small Intestine	intestine
17	chr9:97041400-97053600	Weak transcription	HepG2	liver
18	chr9:97041800-97054800	Weak transcription	Fetal Brain Male	brain
19	chr9:97042200-97054400	Weak transcription	Spleen	Spleen
20	chr9:97042200-97055400	Weak transcription	Esophagus	oesophagus
21	chr9:97042600-97061400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr9:97042600-97068400	Weak transcription	Fetal Brain Female	brain
23	chr9:97042800-97054600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr9:97042800-97054600	Weak transcription	Fetal Kidney	kidney
25	chr9:97042800-97057000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr9:97042800-97064000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr9:97042800-97064400	Weak transcription	Hela-S3	cervix
28	chr9:97043000-97053600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr9:97043000-97053600	Weak transcription	Brain Anterior Caudate	brain
30	chr9:97043000-97054200	Weak transcription	Osteobl	bone
31	chr9:97043000-97057000	Weak transcription	HUVEC	blood vessel
32	chr9:97043000-97061400	Weak transcription	Fetal Thymus	thymus
33	chr9:97043200-97053600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr9:97043200-97054800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr9:97043200-97054800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr9:97043200-97054800	Weak transcription	Fetal Intestine Large	intestine
37	chr9:97043200-97055000	Weak transcription	Placenta	Placenta
38	chr9:97043200-97055200	Weak transcription	Fetal Intestine Small	intestine
39	chr9:97043200-97060000	Weak transcription	Fetal Lung	lung
40	chr9:97043200-97062800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr9:97043200-97062800	Weak transcription	Brain Angular Gyrus	brain
42	chr9:97043200-97063000	Weak transcription	HMEC	breast
43	chr9:97043200-97064000	Weak transcription	Colonic Mucosa	Colon
44	chr9:97043200-97064400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr9:97043600-97053600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr9:97043600-97054200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr9:97043600-97054400	Weak transcription	HSMM	muscle
48	chr9:97043600-97055000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr9:97043600-97055000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr9:97043800-97054200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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