Variant report

Variant	rs4928087
Chromosome Location	chr3:100480812-100480813
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:100477781..100481491-chr3:100485242..100489259,3	K562	blood:
2	chr3:100480324..100483871-chr3:100505930..100509875,3	MCF-7	breast:
3	chr3:100480581..100482605-chr3:100491620..100493476,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1059363	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10936349	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11353	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1143776	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1143778	0.86[ASN][1000 genomes]
rs1143780	0.86[ASN][1000 genomes]
rs1143782	0.86[ASN][1000 genomes]
rs1144104	0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1144105	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1144106	0.87[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1144107	0.87[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1144108	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1144109	0.86[ASN][1000 genomes]
rs1144110	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1144111	0.81[ASN][1000 genomes]
rs1145338	0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs1165262	0.86[ASN][1000 genomes]
rs1165345	0.80[ASN][1000 genomes]
rs1165346	0.80[ASN][1000 genomes]
rs1165347	0.80[ASN][1000 genomes]
rs1165350	0.86[ASN][1000 genomes]
rs1165535	0.84[ASN][1000 genomes]
rs1185983	0.84[ASN][1000 genomes]
rs11921907	0.84[AMR][1000 genomes]
rs1384198	0.88[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1680499	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1718279	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1915309	0.84[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2126540	0.87[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2245857	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2447456	0.88[ASN][1000 genomes]
rs2449249	0.86[ASN][1000 genomes]
rs2449250	0.84[ASN][1000 genomes]
rs2460715	0.84[ASN][1000 genomes]
rs28364602	0.88[ASN][1000 genomes]
rs3087787	0.84[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35685595	0.91[ASN][1000 genomes]
rs3796276	0.84[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3821726	0.88[ASN][1000 genomes]
rs4144968	0.85[AMR][1000 genomes]
rs4367102	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4928070	0.84[AMR][1000 genomes]
rs4928081	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs510303	0.86[ASN][1000 genomes]
rs560803	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59010521	0.87[ASN][1000 genomes]
rs591728	0.87[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6441383	0.85[AMR][1000 genomes]
rs6441552	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs6767460	0.84[AMR][1000 genomes]
rs6770559	0.81[AMR][1000 genomes]
rs6773482	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6788891	0.88[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6789364	0.85[AMR][1000 genomes]
rs6798180	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7617579	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7627660	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7635652	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7637250	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7637272	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs900234	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs9814836	0.86[ASN][1000 genomes]
rs9843956	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751972	chr3:100342493-100493062	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS 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	18 gene(s)	inside rSNPs	diseases
2	nsv432469	chr3:100342493-100493062	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100450000-100501000	Weak transcription	Esophagus	oesophagus
2	chr3:100467400-100497600	Weak transcription	Fetal Intestine Small	intestine
3	chr3:100468200-100488600	Weak transcription	Colon Smooth Muscle	Colon
4	chr3:100469800-100498200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:100469800-100501400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr3:100470200-100498400	Weak transcription	Right Ventricle	heart
7	chr3:100471000-100495800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:100471600-100500400	Weak transcription	Lung	lung
9	chr3:100471800-100486200	Weak transcription	Brain Substantia Nigra	brain
10	chr3:100471800-100494600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:100471800-100502000	Weak transcription	Brain Anterior Caudate	brain
12	chr3:100472600-100484600	Weak transcription	NHEK	skin
13	chr3:100472800-100482800	Weak transcription	NHLF	lung
14	chr3:100472800-100494400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:100473400-100488400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr3:100473600-100488600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr3:100473600-100488800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr3:100473600-100489200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr3:100473800-100484600	Weak transcription	HMEC	breast
20	chr3:100473800-100496400	Weak transcription	Fetal Intestine Large	intestine
21	chr3:100474000-100488800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr3:100474200-100482400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr3:100474400-100484800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:100474400-100494200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr3:100474400-100500200	Weak transcription	HSMM	muscle
26	chr3:100474400-100501200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr3:100474800-100482800	Weak transcription	HSMMtube	muscle
28	chr3:100475000-100488000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:100475000-100499000	Weak transcription	Placenta	Placenta
30	chr3:100475600-100485600	Weak transcription	Left Ventricle	heart
31	chr3:100475600-100487600	Weak transcription	NHDF-Ad	bronchial
32	chr3:100475600-100520000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr3:100477200-100484800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr3:100477800-100482800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:100478000-100481200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:100478400-100496600	Weak transcription	Aorta	Aorta
37	chr3:100478800-100502000	Weak transcription	Psoas Muscle	Psoas
38	chr3:100479000-100482800	Weak transcription	Osteobl	bone
39	chr3:100479000-100488600	Weak transcription	Fetal Stomach	stomach
40	chr3:100479400-100488000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:100479400-100493000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr3:100479600-100481800	Weak transcription	Adipose Nuclei	Adipose
43	chr3:100479600-100483000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:100479800-100488600	Weak transcription	Fetal Lung	lung
45	chr3:100480200-100493800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:100480400-100481200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:100480400-100488400	Weak transcription	Fetal Muscle Leg	muscle
48	chr3:100480400-100488600	Weak transcription	Ovary	ovary
49	chr3:100480600-100481200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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