Variant report

Variant	rs6747911
Chromosome Location	chr2:142314952-142314953
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:142308972..142312076-chr2:142313360..142316898,3	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10203978	0.82[CEU][hapmap]
rs10803485	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12993511	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13001145	0.81[CHB][hapmap];0.85[CHD][hapmap];0.89[JPT][hapmap];0.82[TSI][hapmap]
rs13027965	0.81[CEU][hapmap];0.94[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.84[TSI][hapmap]
rs1384661	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1384662	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1384665	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs1483137	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1483139	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1483140	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1483146	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1483147	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1483155	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs17551988	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17613870	0.94[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap]
rs17616445	0.84[CEU][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs17617302	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17617659	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2009574	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34185323	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34580805	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34898402	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35714902	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35780951	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36031377	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4284765	0.94[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs4335888	0.81[JPT][hapmap]
rs4371297	0.81[JPT][hapmap]
rs4416160	0.81[JPT][hapmap]
rs4446018	0.81[JPT][hapmap]
rs4446019	0.80[JPT][hapmap]
rs4456644	0.94[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap]
rs4531869	0.81[JPT][hapmap]
rs4605311	0.81[JPT][hapmap]
rs4611596	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4954916	0.81[CEU][hapmap]
rs5012231	0.81[JPT][hapmap]
rs5026929	0.84[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap]
rs62169796	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6429886	0.81[JPT][hapmap]
rs6429906	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6429907	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6429912	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap]
rs6718919	0.84[JPT][hapmap]
rs6719026	0.81[JPT][hapmap]
rs6733981	0.81[JPT][hapmap]
rs713263	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71417147	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7608026	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs764820	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs979080	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9967805	0.98[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	nsv583203	chr2:142055133-142378975	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv875240	chr2:142199421-142347455	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	nsv834393	chr2:142256714-142431564	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
4	nsv459640	chr2:142291211-142345574	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv583213	chr2:142291211-142345574	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv583214	chr2:142299923-142458316	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142313600-142315800	Enhancers	NH-A	brain
2	chr2:142313600-142316000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr2:142313800-142315800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:142313800-142316000	Enhancers	HMEC	breast
5	chr2:142314000-142315000	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:142314200-142315200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:142314200-142315200	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr2:142314200-142315800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr2:142314200-142316000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:142314400-142316000	Enhancers	Primary hematopoietic stem cells	blood
11	chr2:142314800-142315000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:142314800-142315000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:142314800-142315200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr2:142314800-142315200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr2:142314800-142315200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:142314800-142315200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:142314800-142315200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr2:142314800-142315200	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr2:142314800-142315400	Enhancers	HUVEC	blood vessel
20	chr2:142314800-142315800	Enhancers	NHEK	skin

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