Variant report

Variant	rs7517019
Chromosome Location	chr1:210161061-210161062
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210022782..210025213-chr1:210160452..210161959,2	K562	blood:
2	chr1:210033587..210036202-chr1:210159897..210162588,2	MCF-7	breast:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1028325	0.82[ASN][1000 genomes]
rs11119374	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11119375	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11119382	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11119409	0.80[EUR][1000 genomes]
rs12025114	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs12042135	0.80[EUR][1000 genomes]
rs126277	0.81[EUR][1000 genomes]
rs126278	0.81[EUR][1000 genomes]
rs1387934	0.92[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes]
rs170552	0.82[EUR][1000 genomes]
rs170553	0.84[EUR][1000 genomes]
rs170555	0.83[EUR][1000 genomes]
rs170558	0.84[EUR][1000 genomes]
rs183450	0.83[EUR][1000 genomes]
rs189000	0.83[EUR][1000 genomes]
rs189001	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2142861	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2205989	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs227168	0.81[EUR][1000 genomes]
rs227170	0.82[EUR][1000 genomes]
rs227171	0.82[EUR][1000 genomes]
rs227173	0.83[EUR][1000 genomes]
rs227175	0.84[EUR][1000 genomes]
rs227176	0.83[EUR][1000 genomes]
rs227177	0.83[EUR][1000 genomes]
rs227178	0.82[EUR][1000 genomes]
rs227183	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs227184	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs227186	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs227187	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs227188	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs227189	0.80[AMR][1000 genomes]
rs227190	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs227195	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs227200	0.82[EUR][1000 genomes]
rs227202	0.82[EUR][1000 genomes]
rs227207	0.82[EUR][1000 genomes]
rs227216	0.83[EUR][1000 genomes]
rs227221	0.92[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes]
rs227223	0.83[EUR][1000 genomes]
rs227227	0.83[EUR][1000 genomes]
rs227229	0.84[EUR][1000 genomes]
rs227232	0.84[EUR][1000 genomes]
rs2357212	0.96[CEU][hapmap]
rs2636373	0.84[EUR][1000 genomes]
rs2743891	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes]
rs34946555	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6540569	0.96[CEU][hapmap]
rs6540570	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap]
rs6678081	0.81[ASN][1000 genomes]
rs6682334	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6689456	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs701947	0.96[CEU][hapmap]
rs701948	0.96[CEU][hapmap]
rs724054	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap]
rs7513171	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7528647	0.96[CEU][hapmap]
rs7548989	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7549523	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap]
rs846545	0.82[EUR][1000 genomes]
rs846548	0.83[EUR][1000 genomes]
rs846549	0.82[EUR][1000 genomes]
rs846550	0.82[EUR][1000 genomes]
rs846553	0.83[EUR][1000 genomes]
rs846556	0.84[EUR][1000 genomes]
rs846557	0.84[EUR][1000 genomes]
rs846559	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes]
rs860155	0.85[EUR][1000 genomes]
rs9429829	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs9429830	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap]
rs9430026	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs986057	0.96[CEU][hapmap]

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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873140	chr1:210068117-210335644	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1821002	chr1:210108473-210291476	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210159400-210162000	Weak transcription	NHEK	skin
2	chr1:210159400-210163000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:210159400-210166600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:210159600-210166200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:210159600-210168200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:210160400-210161200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:210160800-210161600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:210161000-210161200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:210161000-210161200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:210161000-210161800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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