Variant report

Variant	rs17586163
Chromosome Location	chr4:100274571-100274572
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11499823	1.00[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];0.91[MEX][hapmap];0.91[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11499828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1154430	1.00[ASN][1000 genomes]
rs1154432	1.00[ASN][1000 genomes]
rs11936869	1.00[CHB][hapmap]
rs1229863	1.00[ASN][1000 genomes]
rs1583973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1631460	1.00[CHB][hapmap];0.82[CHD][hapmap]
rs1662051	1.00[CHB][hapmap]
rs1662058	1.00[CHB][hapmap]
rs1662060	1.00[CHB][hapmap]
rs1693424	1.00[CHB][hapmap];0.84[CHD][hapmap]
rs1693469	1.00[CHB][hapmap]
rs1693471	0.81[ASN][1000 genomes]
rs1693476	1.00[CHB][hapmap];0.84[CHD][hapmap]
rs1693482	1.00[CHB][hapmap]
rs17526590	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17586023	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1789889	1.00[ASN][1000 genomes]
rs1789890	1.00[ASN][1000 genomes]
rs1789891	1.00[ASN][1000 genomes]
rs1789898	1.00[CHB][hapmap];0.84[CHD][hapmap]
rs1789903	1.00[CHB][hapmap];0.84[CHD][hapmap]
rs1789911	1.00[CHB][hapmap];0.84[CHD][hapmap]
rs1789924	1.00[CHB][hapmap];0.84[CHD][hapmap]
rs2165670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2213041	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2226898	1.00[ASN][1000 genomes]
rs2298753	1.00[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];0.89[MKK][hapmap];0.91[TSI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298755	1.00[CHB][hapmap];0.84[CHD][hapmap]
rs283415	1.00[CHB][hapmap];0.84[CHD][hapmap]
rs2866153	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33988198	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34178057	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34774688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35189763	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3910713	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56009681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56109716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62305761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62305762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62305763	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62307295	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62307318	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62307321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62307322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62307323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62307324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs698	1.00[CHB][hapmap];0.84[CHD][hapmap]
rs904095	1.00[CHB][hapmap];0.84[CHD][hapmap]
rs904096	1.00[CHB][hapmap];0.84[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv3355763	chr4:100070566-100376814	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1014237	chr4:100102701-100365700	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1010988	chr4:100105463-100444445	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1000659	chr4:100117276-100444445	Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv999549	chr4:100121609-100351749	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv3353320	chr4:100147870-100425701	Genic enhancers ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv3394995	chr4:100147890-100425671	Enhancers Genic enhancers Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1002809	chr4:100234048-100285508	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv528518	chr4:100258155-100274749	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv879659	chr4:100260789-100349135	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	esv3420705	chr4:100273129-100277327	Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100271600-100274600	Active TSS	Rectal Smooth Muscle	rectum
2	chr4:100273600-100274600	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr4:100273800-100274600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:100273800-100274600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:100273800-100274800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:100273800-100274800	Flanking Active TSS	Liver	Liver
7	chr4:100273800-100274800	Flanking Active TSS	Fetal Lung	lung
8	chr4:100273800-100275000	Enhancers	Fetal Muscle Leg	muscle
9	chr4:100274000-100274600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:100274000-100274600	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr4:100274000-100274600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
12	chr4:100274000-100274600	Enhancers	NHLF	lung
13	chr4:100274000-100274800	Enhancers	Fetal Kidney	kidney
14	chr4:100274000-100275000	Enhancers	Fetal Intestine Large	intestine
15	chr4:100274000-100275000	Enhancers	Fetal Intestine Small	intestine
16	chr4:100274200-100274600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr4:100274200-100274600	Enhancers	Fetal Stomach	stomach
18	chr4:100274200-100274600	Enhancers	HepG2	liver
19	chr4:100274200-100274800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:100274200-100274800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr4:100274200-100274800	Enhancers	Pancreas	Pancrea
22	chr4:100274200-100274800	Enhancers	Stomach Smooth Muscle	stomach
23	chr4:100274200-100275000	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr4:100274200-100275000	Enhancers	Small Intestine	intestine
25	chr4:100274200-100275000	Enhancers	Stomach Mucosa	stomach
26	chr4:100274400-100274600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:100274400-100274600	Enhancers	Aorta	Aorta
28	chr4:100274400-100274600	Enhancers	Colonic Mucosa	Colon
29	chr4:100274400-100274600	Flanking Active TSS	Right Atrium	heart
30	chr4:100274400-100274800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr4:100274400-100275000	Enhancers	Ovary	ovary
32	chr4:100274400-100279000	Weak transcription	Colon Smooth Muscle	Colon

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