Variant report

Variant	rs4072113
Chromosome Location	chr2:64046733-64046734
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	chr2:64044260..64047678-chr2:64065821..64070525,5	K562	blood:
2	chr2:64046636..64049147-chr2:64067078..64069999,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169764	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10187013	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[YRI][hapmap]
rs10201844	0.89[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10207847	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10211360	0.84[CHB][hapmap]
rs10865343	0.95[CHB][hapmap];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11125985	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11125986	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12612549	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12612596	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12613707	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12713497	0.84[CHB][hapmap]
rs12991311	0.85[CHB][hapmap]
rs13384707	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1362797	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1440004	0.80[EUR][1000 genomes]
rs2054119	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2302809	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs329477	0.82[EUR][1000 genomes]
rs36042418	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4293553	1.00[ASW][hapmap]
rs4318375	0.85[CHB][hapmap]
rs4359637	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4399712	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4671526	0.88[EUR][1000 genomes]
rs4671528	0.84[CHB][hapmap]
rs4671532	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6546025	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6546026	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6546027	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6546038	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHD][hapmap];0.95[MEX][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs6546039	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[GIH][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6546043	0.82[CEU][hapmap]
rs6546046	0.95[CEU][hapmap];0.89[CHB][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.84[MKK][hapmap];0.89[TSI][hapmap]
rs6705192	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6737855	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741298	0.84[CHB][hapmap]
rs6741584	0.84[CHB][hapmap]
rs6746875	0.80[EUR][1000 genomes]
rs6747307	0.84[CHB][hapmap]
rs7589241	1.00[CEU][hapmap];0.84[CHB][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap]
rs7596262	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs9309356	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs998043	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64041800-64047000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr2:64041800-64054200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:64042000-64047000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:64042400-64046800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr2:64042400-64046800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr2:64042800-64046800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:64042800-64046800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:64042800-64052400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:64043000-64047600	Weak transcription	NHLF	lung
10	chr2:64043800-64046800	Weak transcription	Psoas Muscle	Psoas
11	chr2:64043800-64046800	Weak transcription	NHDF-Ad	bronchial
12	chr2:64043800-64047600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:64043800-64049400	Enhancers	Liver	Liver
14	chr2:64044000-64047000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:64044200-64054800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:64045200-64049200	Enhancers	HepG2	liver
17	chr2:64045600-64047000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:64045600-64047400	Weak transcription	Fetal Lung	lung
19	chr2:64045600-64054200	Weak transcription	HSMM	muscle
20	chr2:64045800-64047400	Weak transcription	HSMMtube	muscle
21	chr2:64046000-64047600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:64046000-64053600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:64046200-64047200	Enhancers	Adipose Nuclei	Adipose
24	chr2:64046400-64046800	Enhancers	Colon Smooth Muscle	Colon
25	chr2:64046400-64047000	Enhancers	Aorta	Aorta
26	chr2:64046400-64047200	Enhancers	Right Atrium	heart
27	chr2:64046400-64048400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:64046400-64048800	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr2:64046600-64046800	Enhancers	Fetal Kidney	kidney
30	chr2:64046600-64047200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr2:64046600-64047200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr2:64046600-64047200	Enhancers	Fetal Thymus	thymus
33	chr2:64046600-64047400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:64046600-64047600	Enhancers	Fetal Intestine Small	intestine
35	chr2:64046600-64047800	Enhancers	Fetal Stomach	stomach
36	chr2:64046600-64047800	Enhancers	Ovary	ovary
37	chr2:64046600-64048600	Enhancers	Skeletal Muscle Female	skeletal muscle

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