Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:13654696..13656531-chr6:13723124..13724832,2	K562	blood:
2	chr6:13722605..13725557-chr6:13726180..13727862,2	K562	blood:
3	chr6:13721713..13725590-chr6:13730515..13734730,4	K562	blood:
4	chr6:13709798..13714586-chr6:13721714..13727470,15	MCF-7	breast:
5	chr6:13710420..13715821-chr6:13716871..13724473,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000010017	Chromatin interaction

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	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs17797988	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs17797994	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1963222	0.91[ASN][1000 genomes]
rs1963223	0.91[ASN][1000 genomes]
rs2299026	0.80[ASN][1000 genomes]
rs2299027	0.80[ASN][1000 genomes]
rs35930359	0.91[ASN][1000 genomes]
rs3752501	0.80[ASN][1000 genomes]
rs3757256	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4712100	0.91[ASN][1000 genomes]
rs4715512	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56272112	0.91[ASN][1000 genomes]
rs72831050	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831051	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72831055	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs72831059	0.87[ASN][1000 genomes]
rs72831061	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7760689	0.83[ASN][1000 genomes]
rs9475227	0.91[ASN][1000 genomes]
rs9475276	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13714000-13723400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr6:13717400-13723600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:13720200-13729800	Weak transcription	Esophagus	oesophagus
4	chr6:13721200-13723600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:13721400-13723200	Weak transcription	NHEK	skin
6	chr6:13721800-13724000	Weak transcription	Placenta	Placenta
7	chr6:13722400-13723600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:13722800-13723200	Enhancers	Gastric	stomach
9	chr6:13722800-13725200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:13722800-13725600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr6:13722800-13726200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr6:13722800-13726200	Enhancers	Stomach Mucosa	stomach
13	chr6:13722800-13726800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:13722800-13727000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr6:13722800-13727800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr6:13723000-13723600	Enhancers	K562	blood

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