Variant report

Variant	rs17284082
Chromosome Location	chr2:160996726-160996727
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:160992962..160997280-chr2:160998915..161002711,4	K562	blood:
2	chr2:160994975..160996748-chr2:161076559..161078782,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10497212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12478287	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16844742	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16844790	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs16844802	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs28867432	0.88[ASN][1000 genomes]
rs3111395	0.88[CHB][hapmap]
rs3111397	0.87[CHB][hapmap]
rs4076843	0.82[CHB][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4595921	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4665146	1.00[CEU][hapmap];0.82[JPT][hapmap];0.80[EUR][1000 genomes]
rs4665154	0.83[CHB][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4665156	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs55759330	0.80[EUR][1000 genomes]
rs58716738	0.96[ASN][1000 genomes]
rs60454853	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60915384	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62175380	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62175383	0.91[ASN][1000 genomes]
rs62175385	0.86[ASN][1000 genomes]
rs62175389	0.82[ASN][1000 genomes]
rs62175390	0.82[ASN][1000 genomes]
rs62177892	0.91[ASN][1000 genomes]
rs72967898	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72969807	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72969809	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72975471	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72975474	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72977408	0.89[ASN][1000 genomes]
rs72978513	0.80[EUR][1000 genomes]
rs72978520	0.80[EUR][1000 genomes]
rs72978527	0.80[EUR][1000 genomes]
rs72979930	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7557804	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7573469	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7581712	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7603686	0.87[CHB][hapmap];0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459929	chr2:160963603-161079435	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv583497	chr2:160963603-161079435	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875346	chr2:160965335-161044155	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1001502	chr2:160967864-161079450	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:160959200-161004200	Weak transcription	Gastric	stomach
2	chr2:160959400-161032800	Weak transcription	Psoas Muscle	Psoas
3	chr2:160983200-161005200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:160990000-161005000	Weak transcription	Colonic Mucosa	Colon
5	chr2:160993200-161002200	Weak transcription	Lung	lung
6	chr2:160993600-160998600	Strong transcription	HMEC	breast
7	chr2:160993600-160998800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:160993800-160997200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:160994000-160997200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:160994200-160996800	Weak transcription	Fetal Stomach	stomach
11	chr2:160994200-160998400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:160994400-160996800	Weak transcription	Fetal Intestine Small	intestine
13	chr2:160994400-160996800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:160994400-160998600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:160994400-160999000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:160994400-161002000	Weak transcription	Esophagus	oesophagus
17	chr2:160994400-161002000	Weak transcription	Fetal Intestine Large	intestine
18	chr2:160994400-161004200	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:160994400-161014800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:160994400-161037400	Weak transcription	Pancreas	Pancrea
21	chr2:160994600-160996800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr2:160994600-161038000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr2:160994800-160998000	Weak transcription	NHEK	skin
24	chr2:160994800-160998600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:160994800-161001000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:160994800-161002000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr2:160995000-160999000	Genic enhancers	HSMM	muscle
28	chr2:160995600-160996800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:160995600-160997200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:160996200-160999200	Enhancers	Osteobl	bone
31	chr2:160996400-160997000	Enhancers	Rectal Smooth Muscle	rectum
32	chr2:160996400-160997400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:160996400-160997600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:160996400-160997800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:160996400-160998600	Enhancers	NHDF-Ad	bronchial
36	chr2:160996400-160999000	Enhancers	HSMMtube	muscle
37	chr2:160996600-160996800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:160996600-160996800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:160996600-160996800	Enhancers	NHLF	lung
40	chr2:160996600-160997200	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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