Variant report

Variant	rs73175822
Chromosome Location	chr12:104250707-104250708
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104233205..104236875-chr12:104247601..104251045,3	MCF-7	breast:
2	chr12:104234105..104239098-chr12:104250004..104255076,13	MCF-7	breast:
3	chr12:104247941..104249530-chr12:104249727..104251243,2	K562	blood:
4	chr12:104250532..104253421-chr12:104255015..104257063,2	K562	blood:

Variant related genes	Relation type
ENSG00000111696	Chromatin interaction
ENSG00000257327	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11111811	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11111812	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11111814	0.95[ASN][1000 genomes]
rs11111819	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11111820	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11111825	0.95[ASN][1000 genomes]
rs11111829	0.95[ASN][1000 genomes]
rs11830285	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12228360	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576974	0.94[ASN][1000 genomes]
rs4590949	0.86[EUR][1000 genomes]
rs7301247	0.86[EUR][1000 genomes]
rs7302790	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7315947	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73175819	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104236000-104252600	Weak transcription	Esophagus	oesophagus
2	chr12:104236000-104252600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:104236000-104253600	Weak transcription	Gastric	stomach
4	chr12:104240000-104254800	Enhancers	Rectal Smooth Muscle	rectum
5	chr12:104243800-104251400	Enhancers	Colon Smooth Muscle	Colon
6	chr12:104245000-104250800	Enhancers	HepG2	liver
7	chr12:104245200-104252000	Enhancers	Stomach Smooth Muscle	stomach
8	chr12:104246400-104252600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:104246600-104252400	Weak transcription	NHEK	skin
10	chr12:104246600-104253200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:104246800-104251000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:104246800-104251400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:104246800-104252200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:104246800-104254000	Weak transcription	Brain Anterior Caudate	brain
15	chr12:104247800-104252200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:104248800-104252800	Weak transcription	Fetal Stomach	stomach
17	chr12:104249600-104252000	Weak transcription	HSMMtube	muscle
18	chr12:104249600-104252600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:104249800-104252200	Weak transcription	HMEC	breast
20	chr12:104249800-104252600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:104250000-104252600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:104250000-104257000	Weak transcription	Pancreas	Pancrea
23	chr12:104250000-104263800	Weak transcription	Liver	Liver
24	chr12:104250200-104251000	Weak transcription	Fetal Intestine Small	intestine
25	chr12:104250200-104251200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:104250200-104252200	Weak transcription	HSMM	muscle
27	chr12:104250200-104252400	Weak transcription	NH-A	brain
28	chr12:104250400-104250800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr12:104250400-104252400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:104250400-104254000	Weak transcription	Ovary	ovary
31	chr12:104250600-104252200	Weak transcription	Placenta	Placenta
32	chr12:104250600-104252600	Weak transcription	Osteobl	bone

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