Variant report

Variant	rs2367273
Chromosome Location	chr4:74565437-74565438
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:74564675..74567872-chr4:74591204..74594045,3	MCF-7	breast:
2	chr4:74563007..74566093-chr4:74566214..74569321,4	K562	blood:
3	chr4:74563931..74567096-chr4:74570167..74572895,3	K562	blood:
4	chr4:74558088..74561478-chr4:74562636..74566265,4	K562	blood:
5	chr4:74562881..74566093-chr4:74566845..74569555,4	K562	blood:
6	chr4:74546704..74548843-chr4:74564571..74566434,2	K562	blood:
7	chr4:74563928..74566862-chr4:75033357..75036869,3	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10025373	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10029200	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10938089	1.00[ASN][1000 genomes]
rs10938091	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11722921	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11938646	1.00[ASN][1000 genomes]
rs1247605	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247607	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247608	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247611	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247620	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247633	1.00[ASN][1000 genomes]
rs1247634	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247635	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1247639	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1247687	0.98[ASN][1000 genomes]
rs1247689	0.99[ASN][1000 genomes]
rs12508451	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1261935	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12642878	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12643076	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12643148	0.98[ASN][1000 genomes]
rs12646031	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12649614	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1269764	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1269766	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1358594	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1406498	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1528910	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1528912	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1528913	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1729722	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1745246	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1951702	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1951703	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.98[ASN][1000 genomes]
rs1951704	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1951705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2091587	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2141467	0.98[ASN][1000 genomes]
rs2141468	1.00[ASN][1000 genomes]
rs2178291	0.98[ASN][1000 genomes]
rs2886918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3796679	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4127802	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4259030	0.98[ASN][1000 genomes]
rs4568212	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4637366	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4694633	0.98[ASN][1000 genomes]
rs56785010	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61101665	0.98[ASN][1000 genomes]
rs6446950	0.91[ASN][1000 genomes]
rs6446951	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.83[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6446953	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6446954	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6818711	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6836038	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6857472	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs720702	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72865497	0.98[ASN][1000 genomes]
rs72865502	0.98[ASN][1000 genomes]
rs7655660	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7656501	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7656608	1.00[ASN][1000 genomes]
rs7657356	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7657358	0.98[ASN][1000 genomes]
rs7660448	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7660923	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7665606	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7678280	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7678307	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7681924	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7681932	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7682745	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7683759	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7689702	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs942051	0.98[ASN][1000 genomes]
rs9991585	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.93[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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1012198	chr4:74487793-74621952	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv537139	chr4:74487793-74621952	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1005231	chr4:74555497-74680079	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74558600-74567200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:74564000-74566800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:74564000-74570200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr4:74564200-74566800	Weak transcription	NHDF-Ad	bronchial
5	chr4:74564200-74568400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:74564400-74566800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr4:74564400-74567000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:74564400-74567000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:74564400-74568400	Weak transcription	HSMM	muscle
10	chr4:74564400-74569200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:74564600-74567000	Weak transcription	Osteobl	bone
12	chr4:74564600-74570000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr4:74564800-74566800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:74564800-74566800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr4:74564800-74566800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:74564800-74566800	Weak transcription	HMEC	breast
17	chr4:74564800-74566800	Weak transcription	NHEK	skin
18	chr4:74564800-74567000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:74564800-74567000	Weak transcription	Hela-S3	cervix
20	chr4:74564800-74567000	Weak transcription	NH-A	brain
21	chr4:74564800-74569200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:74564800-74569200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr4:74564800-74569600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:74564800-74569800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:74565000-74566800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:74565000-74566800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:74565000-74568200	Weak transcription	HUVEC	blood vessel

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