Variant report

Variant	rs4626520
Chromosome Location	chr7:80260023-80260024
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:80254055..80256546-chr7:80258500..80261458,2	K562	blood:

Variant related genes	Relation type
ENSG00000135218	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10480808	0.85[EUR][1000 genomes]
rs1049654	0.95[EUR][1000 genomes]
rs10499859	1.00[EUR][1000 genomes]
rs1054516	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1054517	0.87[ASN][1000 genomes]
rs11770358	0.97[EUR][1000 genomes]
rs11770907	1.00[EUR][1000 genomes]
rs11771152	0.97[EUR][1000 genomes]
rs1194177	0.92[EUR][1000 genomes]
rs1194178	0.92[EUR][1000 genomes]
rs1194179	0.91[EUR][1000 genomes]
rs1194182	0.90[EUR][1000 genomes]
rs12706912	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13233631	0.97[EUR][1000 genomes]
rs13236689	0.91[ASN][1000 genomes]
rs13438282	0.98[EUR][1000 genomes]
rs1358337	0.82[EUR][1000 genomes]
rs1413661	0.96[EUR][1000 genomes]
rs1527479	0.97[EUR][1000 genomes]
rs1537477	0.99[EUR][1000 genomes]
rs17154155	0.94[ASN][1000 genomes]
rs1722502	0.96[EUR][1000 genomes]
rs1722505	0.96[EUR][1000 genomes]
rs1761661	0.94[EUR][1000 genomes]
rs1761662	0.94[EUR][1000 genomes]
rs1761665	0.96[EUR][1000 genomes]
rs1761667	0.97[EUR][1000 genomes]
rs1953298	0.98[EUR][1000 genomes]
rs1953299	0.97[EUR][1000 genomes]
rs2366855	0.99[EUR][1000 genomes]
rs3211821	0.95[EUR][1000 genomes]
rs3211839	0.83[EUR][1000 genomes]
rs3211842	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3211849	0.83[EUR][1000 genomes]
rs3211870	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3211885	0.82[EUR][1000 genomes]
rs3212160	0.97[EUR][1000 genomes]
rs4316098	0.98[EUR][1000 genomes]
rs4545029	0.97[EUR][1000 genomes]
rs4728183	0.99[EUR][1000 genomes]
rs4731643	0.97[EUR][1000 genomes]
rs6961024	0.97[EUR][1000 genomes]
rs7807607	0.89[EUR][1000 genomes]
rs819435	0.90[EUR][1000 genomes]
rs819436	0.90[EUR][1000 genomes]
rs819437	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv831043	chr7:80119414-80322092	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv948605	chr7:80119690-80298887	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1020682	chr7:80120651-80297697	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv464606	chr7:80177084-80311794	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv607682	chr7:80177084-80311794	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1025144	chr7:80197286-80271841	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1026688	chr7:80231657-80307236	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv1020745	chr7:80231657-80309495	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv888526	chr7:80240943-80354229	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
11	nsv888527	chr7:80248029-80279460	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv888528	chr7:80252518-80280117	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv888529	chr7:80252518-80295701	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1023254	chr7:80256255-80272725	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv1027411	chr7:80256255-80276756	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv1032295	chr7:80256738-80276756	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	esv2761341	chr7:80256738-80276768	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv888530	chr7:80258564-80279460	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv888531	chr7:80258564-80280117	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
20	nsv888532	chr7:80258564-80282636	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80255600-80260200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:80255800-80261800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:80256400-80261600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:80257800-80260400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr7:80258000-80262800	Enhancers	Fetal Heart	heart
6	chr7:80258600-80264800	Weak transcription	Left Ventricle	heart
7	chr7:80259000-80260200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:80259000-80260200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:80259400-80260200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr7:80259400-80260400	Enhancers	Small Intestine	intestine
11	chr7:80259400-80261600	Enhancers	Fetal Lung	lung
12	chr7:80259600-80262400	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr7:80259600-80263400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:80259800-80260200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:80259800-80260200	Enhancers	NHEK	skin
16	chr7:80259800-80260400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:80259800-80260400	Enhancers	Colon Smooth Muscle	Colon
18	chr7:80259800-80260600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:80259800-80260600	Enhancers	Osteobl	bone
20	chr7:80259800-80260800	Enhancers	Hela-S3	cervix
21	chr7:80259800-80260800	Enhancers	NHLF	lung
22	chr7:80260000-80260200	Enhancers	HMEC	breast
23	chr7:80260000-80260400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:80260000-80260400	Enhancers	Fetal Muscle Leg	muscle
25	chr7:80260000-80260400	Enhancers	Pancreas	Pancrea
26	chr7:80260000-80260400	Flanking Active TSS	Psoas Muscle	Psoas
27	chr7:80260000-80260400	Flanking Active TSS	Rectal Smooth Muscle	rectum
28	chr7:80260000-80260400	Active TSS	Right Atrium	heart
29	chr7:80260000-80260400	Active TSS	Stomach Smooth Muscle	stomach
30	chr7:80260000-80260400	Flanking Active TSS	HepG2	liver
31	chr7:80260000-80260600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:80260000-80260600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:80260000-80260600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:80260000-80260600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:80260000-80260600	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr7:80260000-80260600	Enhancers	Ovary	ovary
37	chr7:80260000-80260600	Enhancers	Right Ventricle	heart
38	chr7:80260000-80260600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr7:80260000-80260600	Enhancers	NHDF-Ad	bronchial
40	chr7:80260000-80260800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr7:80260000-80265600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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