Variant report

Variant	rs72831050
Chromosome Location	chr6:13722715-13722716
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13722605..13725557-chr6:13726180..13727862,2	K562	blood:
2	chr6:13721713..13725590-chr6:13730515..13734730,4	K562	blood:
3	chr6:13709798..13714586-chr6:13721714..13727470,15	MCF-7	breast:
4	chr6:13710420..13715821-chr6:13716871..13724473,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000010017	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10484251	0.80[ASN][1000 genomes]
rs11753232	0.81[ASN][1000 genomes]
rs11759518	0.81[ASN][1000 genomes]
rs17213683	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17797988	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17797994	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1963222	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1963223	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2299026	0.80[ASN][1000 genomes]
rs2299027	0.80[ASN][1000 genomes]
rs35930359	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3752501	0.80[ASN][1000 genomes]
rs3757256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4712100	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4715512	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56272112	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6935036	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831051	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72831055	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72831059	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72831061	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7760689	0.83[ASN][1000 genomes]
rs9475227	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9475276	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv883451	chr6:13704341-13728670	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
3	nsv883452	chr6:13704341-13733565	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13714000-13722800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:13714000-13723400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr6:13716600-13722800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr6:13717400-13723600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:13718600-13722800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr6:13719400-13722800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:13720200-13729800	Weak transcription	Esophagus	oesophagus
8	chr6:13721200-13722800	Weak transcription	Stomach Mucosa	stomach
9	chr6:13721200-13723600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:13721400-13723200	Weak transcription	NHEK	skin
11	chr6:13721800-13724000	Weak transcription	Placenta	Placenta
12	chr6:13722400-13723600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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