Variant report

Variant	rs6693420
Chromosome Location	chr1:241651018-241651019
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:241644658..241646283-chr1:241649186..241651248,2	K562	blood:
2	chr1:241643115..241646158-chr1:241648871..241651877,3	K562	blood:
3	chr1:241649973..241652438-chr1:241659468..241661017,2	K562	blood:
4	chr1:241646443..241651437-chr1:241651445..241654937,7	K562	blood:

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10737865	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10754728	0.88[EUR][1000 genomes]
rs10754729	0.85[AMR][1000 genomes]
rs10754730	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10802968	0.88[CEU][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10926493	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10926499	0.95[EUR][1000 genomes]
rs10926500	0.97[EUR][1000 genomes]
rs11586971	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11586972	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11802956	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs11810810	0.86[EUR][1000 genomes]
rs12085636	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12130191	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12563264	0.88[CEU][hapmap];0.86[GIH][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs12754512	0.94[CHB][hapmap];0.83[JPT][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2153692	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2153693	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2153695	0.84[CEU][hapmap];0.86[GIH][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2185626	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2880196	0.85[AMR][1000 genomes]
rs4601574	0.83[CEU][hapmap];0.86[YRI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4638115	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4659608	0.88[EUR][1000 genomes]
rs4660095	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4660096	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4660099	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6673988	0.88[CEU][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7412238	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7536335	0.91[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs947306	0.87[ASW][hapmap];0.84[CEU][hapmap];0.86[GIH][hapmap];0.89[MEX][hapmap];0.83[MKK][hapmap];0.87[TSI][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9729137	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918034	chr1:241072791-242005532	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv997966	chr1:241100739-242087629	Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv949442	chr1:241432051-241730054	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1002214	chr1:241458939-242099790	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv549460	chr1:241494578-241833287	Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1009579	chr1:241499537-241824631	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv530112	chr1:241522031-241840269	Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv873368	chr1:241533392-242195928	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	nsv527805	chr1:241651018-241656685	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:241639000-241657000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:241643800-241657800	Weak transcription	Psoas Muscle	Psoas
3	chr1:241644600-241657200	Weak transcription	Right Ventricle	heart
4	chr1:241646400-241657200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:241647000-241656400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:241647000-241656800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:241647000-241657000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:241647000-241657000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:241647000-241657200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:241647000-241657400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:241647000-241657600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:241647000-241657600	Weak transcription	HMEC	breast
13	chr1:241647000-241657600	Weak transcription	NH-A	brain
14	chr1:241647000-241657600	Weak transcription	NHEK	skin
15	chr1:241647000-241660000	Weak transcription	A549	lung
16	chr1:241647000-241660000	Weak transcription	Hela-S3	cervix
17	chr1:241647000-241666600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:241647400-241657200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:241647600-241657000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:241647600-241657600	Weak transcription	HSMM	muscle
21	chr1:241648400-241660200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:241649000-241657400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:241649000-241657400	Weak transcription	Osteobl	bone
24	chr1:241649200-241658600	Weak transcription	NHDF-Ad	bronchial
25	chr1:241649400-241657400	Weak transcription	HUVEC	blood vessel
26	chr1:241649600-241654400	Weak transcription	GM12878-XiMat	blood
27	chr1:241649600-241657400	Weak transcription	NHLF	lung
28	chr1:241649800-241656800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:241650400-241657400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:241650400-241657400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:241650600-241657400	Weak transcription	K562	blood

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