Variant report

Variant	rs6453085
Chromosome Location	chr5:70955276-70955277
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	chr5:70954808..70955725-chr5:71053665..71054393,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1973435	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs60069076	0.90[ASN][1000 genomes]
rs7379830	0.82[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	nsv1034703	chr5:70391173-70995695	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv830340	chr5:70797113-70967110	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv532805	chr5:70916228-71020967	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70935000-70955800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:70943200-70955600	Weak transcription	Psoas Muscle	Psoas
3	chr5:70945600-70955600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:70946000-70955800	Weak transcription	Osteobl	bone
5	chr5:70946200-70956200	Weak transcription	NH-A	brain
6	chr5:70946200-70956400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:70947400-70955600	Weak transcription	NHDF-Ad	bronchial
8	chr5:70947600-70956800	Weak transcription	HMEC	breast
9	chr5:70947800-70956000	Weak transcription	K562	blood
10	chr5:70949200-70956000	Weak transcription	Brain Substantia Nigra	brain
11	chr5:70949200-70958400	Weak transcription	Small Intestine	intestine
12	chr5:70949400-70955600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr5:70949400-70955800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:70949400-70955800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr5:70949400-70956000	Weak transcription	Fetal Thymus	thymus
16	chr5:70949400-70956200	Weak transcription	NHEK	skin
17	chr5:70949400-70958800	Weak transcription	HepG2	liver
18	chr5:70949600-70955800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr5:70949800-70955800	Weak transcription	Colon Smooth Muscle	Colon
20	chr5:70951400-70955600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr5:70951600-70955800	Weak transcription	GM12878-XiMat	blood
22	chr5:70951800-70958400	Weak transcription	Hela-S3	cervix
23	chr5:70952800-70955800	Weak transcription	Primary B cells from cord blood	blood
24	chr5:70952800-70955800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr5:70952800-70955800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr5:70953200-70959000	Weak transcription	A549	lung
27	chr5:70953800-70955400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr5:70953800-70955600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:70953800-70955600	Weak transcription	Fetal Intestine Small	intestine
30	chr5:70953800-70956000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:70953800-70956000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr5:70953800-70956400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:70953800-70956600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:70953800-70956600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:70954000-70955600	Weak transcription	Fetal Stomach	stomach
36	chr5:70954000-70955600	Weak transcription	Gastric	stomach
37	chr5:70954000-70955600	Weak transcription	Spleen	Spleen
38	chr5:70954000-70955800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr5:70954000-70955800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr5:70954000-70956000	Weak transcription	Dnd41	blood
41	chr5:70954000-70956400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr5:70954000-70956800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:70954000-70958400	Weak transcription	Aorta	Aorta
44	chr5:70954000-70961200	Weak transcription	Esophagus	oesophagus
45	chr5:70954200-70955600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr5:70954200-70955800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr5:70954200-70955800	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr5:70954200-70955800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr5:70954200-70955800	Weak transcription	Brain Angular Gyrus	brain
50	chr5:70954200-70955800	Weak transcription	Brain Anterior Caudate	brain

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