Variant report

Variant	rs62447699
Chromosome Location	chr7:26692333-26692334
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:26692261..26694629-chr7:26701079..26703481,2	K562	blood:
2	chr7:26436167..26439021-chr7:26691644..26694496,3	MCF-7	breast:
3	chr7:26437229..26438858-chr7:26692047..26693654,2	MCF-7	breast:
4	chr7:26584727..26586296-chr7:26690615..26692609,2	MCF-7	breast:
5	chr7:26684344..26686336-chr7:26690650..26693486,2	K562	blood:

Variant related genes	Relation type
ENSG00000214870	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1012803	0.87[EUR][1000 genomes]
rs10242687	0.95[EUR][1000 genomes]
rs10248160	0.98[EUR][1000 genomes]
rs10251530	0.83[ASN][1000 genomes]
rs10252153	0.81[ASN][1000 genomes]
rs10276138	0.83[ASN][1000 genomes]
rs1029436	0.94[ASN][1000 genomes]
rs10452789	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10486471	0.94[ASN][1000 genomes]
rs1125542	0.97[EUR][1000 genomes]
rs212832	0.81[EUR][1000 genomes]
rs28639403	0.83[ASN][1000 genomes]
rs35970226	0.94[ASN][1000 genomes]
rs59446421	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59472926	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60101479	0.83[ASN][1000 genomes]
rs60481941	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61639217	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62446548	0.81[ASN][1000 genomes]
rs62446549	0.83[ASN][1000 genomes]
rs62446555	0.94[ASN][1000 genomes]
rs62447660	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6967136	0.82[ASN][1000 genomes]
rs6967151	0.82[ASN][1000 genomes]
rs6967592	0.82[ASN][1000 genomes]
rs7785804	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	nsv830929	chr7:26587888-26749735	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1020378	chr7:26679880-26733872	Bivalent Enhancer Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26671200-26693200	Weak transcription	Spleen	Spleen
2	chr7:26678400-26693200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:26678800-26715400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:26679400-26710000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:26680400-26704400	Weak transcription	Primary B cells from cord blood	blood
6	chr7:26685600-26704400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr7:26686200-26693000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr7:26686400-26701600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr7:26687600-26692400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr7:26688400-26693000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:26688400-26693600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:26688800-26693000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:26688800-26704400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:26689000-26693200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:26690200-26693200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:26691200-26695600	Weak transcription	Placenta	Placenta
17	chr7:26691800-26693000	Enhancers	Hela-S3	cervix
18	chr7:26691800-26693600	Enhancers	Fetal Kidney	kidney
19	chr7:26692000-26694600	Enhancers	Fetal Brain Female	brain
20	chr7:26692000-26697400	Enhancers	Brain Germinal Matrix	brain
21	chr7:26692200-26692400	Enhancers	Pancreas	Pancrea
22	chr7:26692200-26693400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:26692200-26694400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:26692200-26697000	Enhancers	Fetal Brain Male	brain

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