Variant report

Variant	rs13325630
Chromosome Location	chr3:142784945-142784946
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	chr3:142782763..142785207-chr3:142789429..142791710,3	K562	blood:
2	chr3:142771385..142780409-chr3:142780501..142789449,10	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1107771	1.00[EUR][1000 genomes]
rs12107010	0.87[ASN][1000 genomes]
rs13321817	0.87[ASN][1000 genomes]
rs13322379	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs13322528	1.00[CEU][hapmap];0.85[JPT][hapmap];0.86[EUR][1000 genomes]
rs16852899	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16852993	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs3821646	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58531834	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59540153	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6764683	0.86[EUR][1000 genomes]
rs6768278	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs6771415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6781061	0.83[ASN][1000 genomes]
rs6782124	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6797880	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6805721	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6806835	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72990813	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72992541	0.87[ASN][1000 genomes]
rs72992555	0.86[EUR][1000 genomes]
rs7646915	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9289653	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9808897	0.87[ASN][1000 genomes]
rs9808965	0.87[ASN][1000 genomes]
rs9820824	0.87[ASN][1000 genomes]
rs9839114	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9842812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9868064	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9871843	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9876889	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9877143	0.86[EUR][1000 genomes]
rs9881229	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9881390	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9882184	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9883936	0.87[ASN][1000 genomes]
rs9990198	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv877562	chr3:142573789-142846370	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv591921	chr3:142762487-142841740	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv1004467	chr3:142768867-142800605	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv1004682	chr3:142768867-142804154	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142729200-142785200	Weak transcription	Aorta	Aorta
2	chr3:142734400-142785200	Weak transcription	Esophagus	oesophagus
3	chr3:142763400-142787000	Weak transcription	Spleen	Spleen
4	chr3:142765400-142791600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:142767400-142786600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr3:142769600-142789000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:142770400-142787000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:142771200-142790000	Weak transcription	Pancreas	Pancrea
9	chr3:142771400-142786600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr3:142771600-142786600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr3:142773000-142790200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr3:142773400-142785200	Weak transcription	Fetal Kidney	kidney
13	chr3:142773400-142788800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:142774000-142785200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:142774000-142785800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr3:142774200-142789400	Weak transcription	NHLF	lung
17	chr3:142774400-142785200	Weak transcription	Fetal Brain Female	brain
18	chr3:142775000-142786400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:142775200-142789200	Weak transcription	NHDF-Ad	bronchial
20	chr3:142775400-142786000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr3:142775400-142786200	Weak transcription	Fetal Muscle Leg	muscle
22	chr3:142775400-142786600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr3:142775400-142789200	Weak transcription	Primary T cells from cord blood	blood
24	chr3:142775400-142789400	Weak transcription	HSMMtube	muscle
25	chr3:142775600-142786800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr3:142775600-142794400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr3:142776000-142785400	Weak transcription	Colon Smooth Muscle	Colon
28	chr3:142776000-142786400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr3:142776000-142789600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr3:142776000-142789600	Weak transcription	NHEK	skin
31	chr3:142776200-142789400	Weak transcription	Osteobl	bone
32	chr3:142776200-142789600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr3:142776800-142789600	Weak transcription	NH-A	brain
34	chr3:142777000-142789400	Weak transcription	HMEC	breast
35	chr3:142777200-142785600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr3:142778000-142786800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr3:142778000-142786800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr3:142778000-142789200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:142778000-142790400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:142778200-142786800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr3:142778200-142786800	Weak transcription	Fetal Thymus	thymus
42	chr3:142778200-142787800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr3:142778400-142785000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr3:142778800-142790000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr3:142779000-142787000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr3:142780200-142785600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:142780400-142789800	Weak transcription	K562	blood
48	chr3:142780800-142786800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr3:142780800-142789600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:142781000-142785600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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