Variant report

Variant	rs57734320
Chromosome Location	chr7:102633915-102633916
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:102631511..102633980-chr7:102714406..102717077,3	K562	blood:
2	chr7:102632696..102634274-chr7:102635865..102637462,2	K562	blood:
3	chr7:102628465..102631626-chr7:102631792..102634551,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000161040	Chromatin interaction
ENSG00000170632	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12531504	0.81[EUR][1000 genomes]
rs12532779	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12534588	0.95[AFR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12539077	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58183016	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58307369	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv5881	chr7:102610488-102655699	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102623800-102636600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:102629000-102634200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr7:102629000-102634400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr7:102630400-102634600	Enhancers	Osteobl	bone
5	chr7:102630400-102635400	Enhancers	HUVEC	blood vessel
6	chr7:102630600-102634200	Enhancers	HMEC	breast
7	chr7:102630800-102634600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:102631000-102634200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:102631000-102634200	Enhancers	NHDF-Ad	bronchial
10	chr7:102631000-102634200	Enhancers	NHEK	skin
11	chr7:102631000-102634400	Enhancers	NHLF	lung
12	chr7:102631200-102634200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:102631200-102634200	Enhancers	Primary hematopoietic stem cells	blood
14	chr7:102631200-102634400	Enhancers	Colon Smooth Muscle	Colon
15	chr7:102631200-102634400	Enhancers	Stomach Mucosa	stomach
16	chr7:102631200-102634600	Enhancers	NH-A	brain
17	chr7:102631200-102634800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:102631400-102634200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:102631400-102634400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:102631600-102634200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:102631600-102634200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr7:102631600-102634200	Enhancers	HSMM	muscle
23	chr7:102631800-102634000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr7:102631800-102634200	Enhancers	Duodenum Mucosa	Duodenum
25	chr7:102631800-102634200	Enhancers	Rectal Smooth Muscle	rectum
26	chr7:102631800-102634200	Flanking Active TSS	A549	lung
27	chr7:102632000-102634400	Flanking Active TSS	K562	blood
28	chr7:102632200-102634600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr7:102632200-102635200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:102632400-102634600	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr7:102632600-102634000	Enhancers	Fetal Lung	lung
32	chr7:102632600-102634400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:102632600-102634400	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr7:102633200-102634200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr7:102633400-102634200	Enhancers	Adipose Nuclei	Adipose
36	chr7:102633400-102635400	Enhancers	Hela-S3	cervix
37	chr7:102633400-102644600	Weak transcription	Aorta	Aorta
38	chr7:102633400-102650800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:102633600-102634400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:102633600-102634400	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr7:102633600-102634400	Enhancers	Stomach Smooth Muscle	stomach
42	chr7:102633600-102635200	Weak transcription	Ovary	ovary
43	chr7:102633800-102634000	Enhancers	HSMMtube	muscle
44	chr7:102633800-102634200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:102633800-102635000	Weak transcription	Fetal Brain Female	brain
46	chr7:102633800-102636400	Weak transcription	HepG2	liver

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