Variant report

Variant	rs58377812
Chromosome Location	chr3:160247822-160247823
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:160243874..160245789-chr3:160246088..160248768,2	K562	blood:
2	chr3:160247380..160250170-chr3:160281727..160283723,2	K562	blood:
3	chr3:160247630..160249536-chr3:160251457..160253058,2	K562	blood:
4	chr3:160210254..160212371-chr3:160246508..160248687,2	K562	blood:
5	chr3:160119557..160121442-chr3:160246035..160249000,2	K562	blood:
6	chr3:160245830..160248208-chr3:160254358..160256155,2	K562	blood:

Variant related genes	Relation type
ENSG00000229320	Chromatin interaction
ENSG00000113810	Chromatin interaction
ENSG00000186432	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs2305401	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2305406	0.86[AMR][1000 genomes]
rs33999879	0.86[AMR][1000 genomes]
rs3736627	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3806629	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs41272959	0.86[AMR][1000 genomes]
rs56124988	0.91[ASN][1000 genomes]
rs56343019	0.91[ASN][1000 genomes]
rs56396435	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs57030267	0.86[AMR][1000 genomes]
rs57050097	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs57277659	0.86[AMR][1000 genomes]
rs57328745	0.91[ASN][1000 genomes]
rs57555307	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs58654032	0.86[AMR][1000 genomes]
rs58915028	0.86[AMR][1000 genomes]
rs59695030	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs59799252	0.86[AMR][1000 genomes]
rs60066272	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs60153357	0.86[AMR][1000 genomes]
rs60517889	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61066536	0.86[AMR][1000 genomes]
rs62272196	0.86[AMR][1000 genomes]
rs62272198	0.86[AMR][1000 genomes]
rs62272231	0.86[AMR][1000 genomes]
rs62272236	0.86[AMR][1000 genomes]
rs62272237	0.86[AMR][1000 genomes]
rs62272245	0.86[AMR][1000 genomes]
rs62272247	0.86[AMR][1000 genomes]
rs62272249	0.86[AMR][1000 genomes]
rs62272251	0.86[AMR][1000 genomes]
rs62272254	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62272255	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62272256	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62272257	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62272258	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62272259	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62272780	0.91[ASN][1000 genomes]
rs62272781	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62272783	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62272785	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62272787	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62272788	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62272790	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62272793	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62272799	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62272804	0.91[ASN][1000 genomes]
rs62272805	0.91[ASN][1000 genomes]
rs62272806	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs62272831	0.91[ASN][1000 genomes]
rs62272833	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs62272836	0.91[ASN][1000 genomes]
rs62272838	0.91[ASN][1000 genomes]
rs66850724	0.86[AMR][1000 genomes]
rs67403526	0.86[ASN][1000 genomes]
rs73154587	0.86[AMR][1000 genomes]
rs73155914	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7648832	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
8	nsv877700	chr3:160223172-160248363	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv877701	chr3:160228001-160283815	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160215600-160254200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr3:160215800-160254000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:160215800-160254200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:160215800-160254200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:160216000-160254200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr3:160216200-160249200	Strong transcription	Liver	Liver
7	chr3:160216200-160254200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr3:160216400-160254400	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr3:160216800-160253800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr3:160217200-160254000	Strong transcription	Dnd41	blood
11	chr3:160217400-160259600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr3:160219800-160263600	Weak transcription	Right Ventricle	heart
13	chr3:160220600-160261200	Weak transcription	Pancreas	Pancrea
14	chr3:160221600-160249000	Strong transcription	HUVEC	blood vessel
15	chr3:160225600-160259800	Weak transcription	Stomach Mucosa	stomach
16	chr3:160229000-160253400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:160229200-160252800	Strong transcription	Fetal Thymus	thymus
18	chr3:160229200-160253400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr3:160229200-160253400	Strong transcription	Osteobl	bone
20	chr3:160229200-160253600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:160229200-160254000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:160229200-160254000	Strong transcription	Placenta	Placenta
23	chr3:160229600-160253400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:160229600-160253600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr3:160229800-160253200	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr3:160229800-160253400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr3:160229800-160253600	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr3:160229800-160253600	Strong transcription	HSMM	muscle
29	chr3:160229800-160253800	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr3:160230000-160249800	Strong transcription	Fetal Intestine Large	intestine
31	chr3:160230000-160252800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr3:160230000-160253000	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr3:160230000-160253600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr3:160230000-160254000	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr3:160230200-160253600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr3:160230400-160253000	Strong transcription	Fetal Muscle Trunk	muscle
37	chr3:160230400-160253200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:160230400-160253400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr3:160230600-160248800	Strong transcription	Primary T cells from cord blood	blood
40	chr3:160230600-160249400	Strong transcription	Primary B cells from cord blood	blood
41	chr3:160230600-160253400	Strong transcription	Duodenum Mucosa	Duodenum
42	chr3:160230600-160254600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:160231000-160251000	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr3:160231000-160254400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr3:160234200-160258200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr3:160234600-160261000	Weak transcription	Spleen	Spleen
47	chr3:160234600-160281000	Weak transcription	Aorta	Aorta
48	chr3:160235000-160249400	Strong transcription	A549	lung
49	chr3:160235000-160266600	Weak transcription	Esophagus	oesophagus
50	chr3:160236600-160254000	Strong transcription	Hela-S3	cervix

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