Variant report

Variant	rs55919036
Chromosome Location	chr12:104251423-104251424
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104234105..104239098-chr12:104250004..104255076,13	MCF-7	breast:
2	chr12:104247921..104249635-chr12:104251344..104253746,2	MCF-7	breast:
3	chr12:104250532..104253421-chr12:104255015..104257063,2	K562	blood:

Variant related genes	Relation type
ENSG00000257327	Chromatin interaction
ENSG00000111696	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11612613	0.98[ASN][1000 genomes]
rs12426161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12426183	0.97[EUR][1000 genomes]
rs12426202	1.00[EUR][1000 genomes]
rs12426220	0.92[EUR][1000 genomes]
rs12427041	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12580474	0.99[ASN][1000 genomes]
rs12582800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12582917	0.89[ASN][1000 genomes]
rs17034880	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17034911	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17034914	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17034946	1.00[AFR][1000 genomes]
rs17180749	1.00[EUR][1000 genomes]
rs17795280	1.00[EUR][1000 genomes]
rs17795947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1882019	1.00[AFR][1000 genomes]
rs35193500	0.90[EUR][1000 genomes]
rs3751207	1.00[AFR][1000 genomes]
rs3751208	1.00[AFR][1000 genomes]
rs3829300	1.00[AFR][1000 genomes]
rs4135060	1.00[AFR][1000 genomes]
rs4135076	1.00[AFR][1000 genomes]
rs4135078	1.00[AFR][1000 genomes]
rs4135082	1.00[AFR][1000 genomes]
rs4135085	1.00[AFR][1000 genomes]
rs4135086	1.00[AFR][1000 genomes]
rs4135087	1.00[AFR][1000 genomes]
rs4135094	1.00[AFR][1000 genomes]
rs4135095	1.00[AFR][1000 genomes]
rs56040534	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs59879726	0.89[ASN][1000 genomes]
rs60534873	1.00[AFR][1000 genomes]
rs6615	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs728167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9788014	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9788136	1.00[AFR][1000 genomes];0.85[AMR][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	chr12:104245200-104252000	Enhancers	Stomach Smooth Muscle	stomach
6	chr12:104246400-104252600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:104246600-104252400	Weak transcription	NHEK	skin
8	chr12:104246600-104253200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:104246800-104252200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:104246800-104254000	Weak transcription	Brain Anterior Caudate	brain
11	chr12:104247800-104252200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:104248800-104252800	Weak transcription	Fetal Stomach	stomach
13	chr12:104249600-104252000	Weak transcription	HSMMtube	muscle
14	chr12:104249600-104252600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:104249800-104252200	Weak transcription	HMEC	breast
16	chr12:104249800-104252600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:104250000-104252600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:104250000-104257000	Weak transcription	Pancreas	Pancrea
19	chr12:104250000-104263800	Weak transcription	Liver	Liver
20	chr12:104250200-104252200	Weak transcription	HSMM	muscle
21	chr12:104250200-104252400	Weak transcription	NH-A	brain
22	chr12:104250400-104252400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:104250400-104254000	Weak transcription	Ovary	ovary
24	chr12:104250600-104252200	Weak transcription	Placenta	Placenta
25	chr12:104250600-104252600	Weak transcription	Osteobl	bone
26	chr12:104250800-104251600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr12:104251000-104253400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:104251200-104252000	Weak transcription	Fetal Intestine Small	intestine
29	chr12:104251200-104254400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:104251400-104251600	Flanking Active TSS	Colon Smooth Muscle	Colon
31	chr12:104251400-104252800	Enhancers	HepG2	liver
32	chr12:104251400-104254400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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