Variant report

Variant	rs62272806
Chromosome Location	chr3:160285283-160285284
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr3:160284848-160285394	Hela-S3	cervix:	n/a	n/a
2	HCFC1	chr3:160282724-160285339	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr3:160279108-160285420	IMR90	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:160165891..160168986-chr3:160283501..160286413,4	K562	blood:
2	chr3:160117430..160119957-chr3:160282536..160285548,3	K562	blood:
3	chr3:160283940..160285450-chr3:160615573..160617691,2	MCF-7	breast:
4	chr3:160165801..160167391-chr3:160284829..160286413,2	K562	blood:
5	chr3:160282107..160285570-chr3:161087865..161089951,3	MCF-7	breast:

No data

Variant related genes	Relation type
KPNA4	TF binding region
KRT8P12	TF binding region
ENSG00000196542	Chromatin interaction
ENSG00000068885	Chromatin interaction
ENSG00000113810	Chromatin interaction
ENSG00000213186	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10513550	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2305401	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305406	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs33999879	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3736627	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3773371	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3806629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41272959	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56124988	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56343019	1.00[ASN][1000 genomes]
rs56396435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56401539	0.86[EUR][1000 genomes]
rs57030267	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57050097	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57277659	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57285344	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57328745	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57555307	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58377812	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs58654032	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58776572	0.86[EUR][1000 genomes]
rs58915028	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59695030	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59799252	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60066272	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60153357	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60517889	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60607858	0.86[EUR][1000 genomes]
rs60914777	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61066536	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272187	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272188	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272190	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272191	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272193	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272196	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272197	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272198	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272231	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272236	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272237	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272245	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272247	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62272249	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62272251	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62272254	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62272255	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62272256	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62272257	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62272258	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62272259	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62272780	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272781	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272783	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272785	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272787	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272788	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272790	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272793	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62272799	0.85[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]
rs62272831	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272836	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272838	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66769612	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66850724	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67403526	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs68069205	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73154587	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73155914	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7618017	0.80[EUR][1000 genomes]
rs7645798	0.82[EUR][1000 genomes]
rs7648832	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[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	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	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
5	nsv877702	chr3:160262803-160304614	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
6	nsv4089	chr3:160284848-160330024	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160281400-160285600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:160282000-160285400	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr3:160282000-160285400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:160284000-160285600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:160284000-160285600	Weak transcription	Spleen	Spleen
6	chr3:160284200-160285600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:160284200-160285600	Weak transcription	Lung	lung
8	chr3:160284200-160285800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:160284200-160285800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:160284200-160285800	Weak transcription	Esophagus	oesophagus
11	chr3:160284200-160285800	Weak transcription	Gastric	stomach
12	chr3:160284200-160286200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr3:160284200-160286400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:160284200-160289600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr3:160284400-160285400	Flanking Active TSS	NH-A	brain
16	chr3:160284400-160286200	Weak transcription	Pancreas	Pancrea
17	chr3:160284400-160286600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr3:160284400-160286800	Weak transcription	Fetal Thymus	thymus
19	chr3:160284600-160285400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:160284600-160285600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:160284600-160285600	Weak transcription	Placenta	Placenta
22	chr3:160284600-160285800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr3:160284600-160286200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr3:160284600-160286200	Weak transcription	Left Ventricle	heart
25	chr3:160284600-160286400	Weak transcription	Aorta	Aorta
26	chr3:160284600-160286400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr3:160284600-160286800	Weak transcription	Thymus	Thymus
28	chr3:160284600-160287000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:160284600-160288400	Weak transcription	Ovary	ovary
30	chr3:160284800-160285400	Weak transcription	Primary T cells from cord blood	blood
31	chr3:160284800-160285400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr3:160284800-160285400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:160284800-160285600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr3:160284800-160285600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr3:160284800-160285600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr3:160284800-160285600	Weak transcription	Fetal Muscle Leg	muscle
37	chr3:160284800-160285600	Weak transcription	Fetal Stomach	stomach
38	chr3:160284800-160285800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr3:160284800-160285800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr3:160284800-160285800	Weak transcription	Right Ventricle	heart
41	chr3:160284800-160287200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr3:160284800-160287200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr3:160284800-160287600	Weak transcription	Fetal Intestine Large	intestine
44	chr3:160284800-160287800	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr3:160284800-160288200	Weak transcription	Brain Substantia Nigra	brain
46	chr3:160284800-160288400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr3:160284800-160289600	Weak transcription	Fetal Lung	lung
48	chr3:160284800-160292000	Weak transcription	Brain Anterior Caudate	brain
49	chr3:160284800-160295000	Weak transcription	Stomach Mucosa	stomach
50	chr3:160284800-160295200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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