Variant report

Variant	rs6742187
Chromosome Location	chr2:63991959-63991960
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10183479	0.91[YRI][hapmap]
rs10201844	0.84[CHB][hapmap]
rs10211360	0.85[CHB][hapmap]
rs10865342	0.81[AFR][1000 genomes]
rs10865343	0.85[CHB][hapmap]
rs10865344	0.85[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11125981	0.85[AFR][1000 genomes]
rs11677338	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11686956	0.88[AFR][1000 genomes]
rs11691987	0.91[YRI][hapmap]
rs11695421	0.90[AFR][1000 genomes]
rs12713497	0.84[CHB][hapmap]
rs12991311	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13006124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13384707	0.85[CHB][hapmap]
rs17619717	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17619753	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs35474183	0.89[AFR][1000 genomes]
rs4318375	0.95[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs4538187	1.00[YRI][hapmap]
rs4671073	0.84[YRI][hapmap]
rs4671528	0.84[CHB][hapmap]
rs6546025	0.81[CHB][hapmap]
rs6546026	0.81[CHB][hapmap]
rs6546029	0.91[YRI][hapmap]
rs6546030	0.91[YRI][hapmap]
rs6546039	0.84[CHB][hapmap]
rs6710230	0.92[YRI][hapmap];0.80[AFR][1000 genomes]
rs6715992	0.91[YRI][hapmap]
rs6726257	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6737855	0.85[CHB][hapmap]
rs6741298	0.84[CHB][hapmap]
rs6741584	0.85[CHB][hapmap]
rs6747307	0.85[CHB][hapmap]
rs6755646	0.91[YRI][hapmap]
rs7590399	0.91[YRI][hapmap]
rs7596262	0.81[CHB][hapmap]
rs7597935	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9309356	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834242	chr2:63891249-64045617	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63973000-63992800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:63976400-64028600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:63985600-63992400	Weak transcription	Psoas Muscle	Psoas
4	chr2:63989800-63993200	Enhancers	NHDF-Ad	bronchial
5	chr2:63990200-63992400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:63990200-63992600	Enhancers	Osteobl	bone
7	chr2:63990200-63992800	Enhancers	NHLF	lung
8	chr2:63990400-63993200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr2:63990600-63992400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:63990600-63992800	Enhancers	HSMMtube	muscle
11	chr2:63990800-63992000	Enhancers	NH-A	brain
12	chr2:63990800-63992200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:63990800-63992200	Enhancers	HSMM	muscle
14	chr2:63990800-63992600	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr2:63990800-63993400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:63991000-63992600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:63991200-63992800	Enhancers	Fetal Muscle Leg	muscle
18	chr2:63991400-63992400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr2:63991400-63992400	Weak transcription	Adipose Nuclei	Adipose
20	chr2:63991400-63993000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:63991400-63993000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:63991400-63993000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:63991400-63993000	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr2:63991400-63993200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr2:63991600-63992200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr2:63991600-63992400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:63991600-63992400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr2:63991600-63992400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr2:63991600-63992400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:63991600-63992600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:63991600-63992800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:63991600-63992800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:63991600-63992800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:63991600-63993000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr2:63991600-63993000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr2:63991600-63993200	Enhancers	HepG2	liver
37	chr2:63991600-63994400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:63991800-63992000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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