Variant report

Variant	rs2648117
Chromosome Location	chr4:186787096-186787097
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10001944	0.89[JPT][hapmap]
rs10002028	0.89[JPT][hapmap]
rs13112022	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2034787	0.83[ASW][hapmap]
rs2603724	0.91[ASW][hapmap];0.84[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap];0.94[LWK][hapmap];0.86[MEX][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2648107	0.83[CHB][hapmap];0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2648111	0.85[CHB][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap];0.95[YRI][hapmap];0.81[ASN][1000 genomes]
rs2648112	0.86[YRI][hapmap]
rs2648121	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6552935	0.91[ASW][hapmap];0.85[YRI][hapmap]
rs7657921	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9994907	1.00[ASW][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv830171	chr4:186610113-186789271	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	26 gene(s)	inside rSNPs	diseases
6	nsv1015236	chr4:186696172-187004074	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2648117	SORBS2	cis	parietal	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186771600-186791600	Weak transcription	Right Atrium	heart
2	chr4:186784200-186791400	Weak transcription	Right Ventricle	heart
3	chr4:186785400-186788800	Weak transcription	Fetal Stomach	stomach
4	chr4:186785600-186794800	Enhancers	Fetal Heart	heart
5	chr4:186786200-186787400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:186786200-186787800	Enhancers	HSMMtube	muscle
7	chr4:186786400-186787800	Enhancers	HSMM	muscle
8	chr4:186786600-186787600	Enhancers	NH-A	brain
9	chr4:186786600-186787600	Enhancers	NHEK	skin
10	chr4:186786600-186787600	Enhancers	Osteobl	bone
11	chr4:186786600-186787800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr4:186786600-186790000	Weak transcription	Left Ventricle	heart
13	chr4:186786800-186787200	Weak transcription	Pancreas	Pancrea
14	chr4:186786800-186787200	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr4:186786800-186787400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr4:186786800-186787400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:186786800-186787400	Enhancers	Adipose Nuclei	Adipose
18	chr4:186786800-186787600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr4:186786800-186787600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:186786800-186787600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:186786800-186787800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:186786800-186787800	Enhancers	HMEC	breast
23	chr4:186787000-186787200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr4:186787000-186787400	Enhancers	H9 Cell Line	embryonic stem cell
25	chr4:186787000-186787400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:186787000-186787400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:186787000-186787400	Active TSS	Liver	Liver
28	chr4:186787000-186787400	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr4:186787000-186787600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr4:186787000-186788000	Enhancers	Fetal Intestine Small	intestine
31	chr4:186787000-186790000	Weak transcription	Stomach Mucosa	stomach

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