Variant report

Variant	rs62272783
Chromosome Location	chr3:160216261-160216262
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:160210334..160212458-chr3:160215518..160217424,2	K562	blood:
2	chr3:160214963..160217572-chr3:160217602..160219755,2	MCF-7	breast:
3	chr3:160204576..160208180-chr3:160214688..160218928,3	MCF-7	breast:
4	chr3:160209467..160214464-chr3:160215473..160219309,5	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10513550	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11920289	0.86[EUR][1000 genomes]
rs12233589	0.86[EUR][1000 genomes]
rs2275153	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2305401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305406	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs33999879	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3736627	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3773371	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3806629	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41272959	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55815116	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56119270	0.86[EUR][1000 genomes]
rs56124988	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56150006	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56343019	1.00[ASN][1000 genomes]
rs56396435	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56401539	0.93[EUR][1000 genomes]
rs57030267	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57050097	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57277659	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57285344	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57328745	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57555307	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58377812	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs58627305	0.86[EUR][1000 genomes]
rs58654032	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58776572	0.93[EUR][1000 genomes]
rs58915028	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59695030	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59799252	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60066272	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60153357	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60222090	0.83[ASN][1000 genomes]
rs60517889	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60607858	0.93[EUR][1000 genomes]
rs60914777	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61066536	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272169	0.83[ASN][1000 genomes]
rs62272171	0.84[AMR][1000 genomes]
rs62272176	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272179	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272180	0.86[EUR][1000 genomes]
rs62272181	0.87[EUR][1000 genomes]
rs62272185	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272187	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272188	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272190	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272191	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272193	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272196	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272197	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272198	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272207	0.86[EUR][1000 genomes]
rs62272231	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272236	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272237	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272243	0.84[AMR][1000 genomes]
rs62272245	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272247	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272249	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62272251	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62272253	0.84[AMR][1000 genomes]
rs62272254	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62272255	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62272256	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62272257	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62272258	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62272259	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62272780	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272781	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272785	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272787	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272788	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272790	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272793	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62272799	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62272804	1.00[ASN][1000 genomes]
rs62272805	1.00[ASN][1000 genomes]
rs62272806	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272831	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272833	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272836	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272838	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66769612	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66850724	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67403526	0.95[ASN][1000 genomes]
rs68069205	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73154564	0.84[AMR][1000 genomes]
rs73154582	0.92[AMR][1000 genomes]
rs73154587	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73155914	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7614701	0.86[EUR][1000 genomes]
rs7618017	0.87[EUR][1000 genomes]
rs7645798	0.89[EUR][1000 genomes]
rs7648832	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9637414	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532666	chr3:159777847-160703202	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv1000453	chr3:159853305-160366357	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
3	nsv536779	chr3:159853305-160366357	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
4	esv1800136	chr3:159950498-160278160	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	esv1801767	chr3:159950498-160279411	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
6	nsv1008519	chr3:160038710-160292589	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	255 gene(s)	inside rSNPs	diseases
7	esv1801686	chr3:160089896-160248363	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	211 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160204000-160219000	Weak transcription	Lung	lung
2	chr3:160204000-160219000	Weak transcription	Thymus	Thymus
3	chr3:160204000-160224000	Weak transcription	Gastric	stomach
4	chr3:160204000-160238200	Weak transcription	Small Intestine	intestine
5	chr3:160204200-160216400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr3:160204200-160216400	Weak transcription	HUVEC	blood vessel
7	chr3:160204200-160216800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr3:160204200-160217200	Weak transcription	Colon Smooth Muscle	Colon
9	chr3:160204200-160217600	Weak transcription	NH-A	brain
10	chr3:160204200-160218800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:160204200-160218800	Weak transcription	Fetal Intestine Large	intestine
12	chr3:160204200-160219000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:160204200-160219000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:160204200-160219000	Weak transcription	NHEK	skin
15	chr3:160204200-160219200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:160204200-160219200	Weak transcription	Aorta	Aorta
17	chr3:160204200-160219200	Weak transcription	Left Ventricle	heart
18	chr3:160204200-160219400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr3:160204200-160224400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:160204200-160224800	Weak transcription	GM12878-XiMat	blood
21	chr3:160204200-160225400	Weak transcription	Fetal Kidney	kidney
22	chr3:160204400-160216400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:160209200-160218600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr3:160209200-160219200	Weak transcription	Fetal Stomach	stomach
25	chr3:160209800-160218600	Weak transcription	HSMMtube	muscle
26	chr3:160210200-160218400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr3:160210200-160219000	Weak transcription	Brain Anterior Caudate	brain
28	chr3:160210600-160219200	Weak transcription	Fetal Lung	lung
29	chr3:160211000-160216400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:160212000-160216600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:160212000-160220400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr3:160212400-160219200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr3:160212600-160216400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr3:160212600-160218200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr3:160213000-160218800	Weak transcription	Brain Hippocampus Middle	brain
36	chr3:160213000-160219200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr3:160213000-160220200	Weak transcription	Fetal Intestine Small	intestine
38	chr3:160213000-160228600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:160213200-160219200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:160213200-160219200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr3:160213200-160222800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr3:160213400-160219200	Weak transcription	Fetal Muscle Leg	muscle
43	chr3:160213600-160223800	Weak transcription	Psoas Muscle	Psoas
44	chr3:160214000-160219200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr3:160214200-160217600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr3:160214400-160217200	Weak transcription	Dnd41	blood
47	chr3:160214400-160217600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr3:160214400-160218200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr3:160214600-160216800	Weak transcription	Hela-S3	cervix
50	chr3:160214600-160218800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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