Variant report

Variant	rs6604631
Chromosome Location	chr1:216707519-216707520
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	chr1:216705301..216708105-chr1:216716452..216719098,3	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10495026	1.00[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.84[ASN][1000 genomes]
rs10863248	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10863249	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11117609	0.84[ASN][1000 genomes]
rs11117610	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs11117611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11572811	0.82[JPT][hapmap]
rs12089635	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12117030	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs12117150	0.84[ASN][1000 genomes]
rs12118392	1.00[CHB][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.84[ASN][1000 genomes]
rs12118884	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs12125859	0.81[CHB][hapmap];0.84[CHD][hapmap];0.84[JPT][hapmap]
rs12128944	0.84[ASN][1000 genomes]
rs12144650	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12144754	0.82[ASN][1000 genomes]
rs12757147	0.81[CHB][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];0.82[ASN][1000 genomes]
rs1498285	1.00[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1498286	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17610844	0.81[ASN][1000 genomes]
rs1846224	0.81[CHB][hapmap];0.85[CHD][hapmap];0.81[ASN][1000 genomes]
rs1846226	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2032036	0.82[ASN][1000 genomes]
rs2088502	0.82[ASN][1000 genomes]
rs2101981	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs4420152	0.83[JPT][hapmap]
rs6604629	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6604630	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6604632	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6678548	0.80[ASN][1000 genomes]
rs6678856	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6679193	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6679623	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6680913	0.84[ASN][1000 genomes]
rs6683007	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6683442	0.84[ASN][1000 genomes]
rs6695067	0.84[ASN][1000 genomes]
rs68013940	0.82[ASN][1000 genomes]
rs7543237	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549199	chr1:216384908-216814702	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1003815	chr1:216504235-216836498	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv535289	chr1:216504235-216836498	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1008939	chr1:216688284-216712570	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216705000-216714400	Weak transcription	Gastric	stomach
2	chr1:216705400-216708000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:216705400-216708200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:216705400-216721000	Weak transcription	Pancreas	Pancrea
5	chr1:216705400-216734800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:216705600-216711800	Weak transcription	Right Atrium	heart
7	chr1:216705800-216708000	Weak transcription	Left Ventricle	heart
8	chr1:216705800-216708600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:216706000-216709200	Weak transcription	Psoas Muscle	Psoas
10	chr1:216707200-216707800	Enhancers	Fetal Heart	heart
11	chr1:216707400-216708000	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:216707400-216708600	Enhancers	Skeletal Muscle Female	skeletal muscle

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