Variant report

Variant	rs4145127
Chromosome Location	chr12:51736913-51736914
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51474815..51477220-chr12:51735097..51737223,2	K562	blood:
2	chr12:51610324..51613201-chr12:51733720..51736973,4	K562	blood:
3	chr12:51635065..51637457-chr12:51735891..51738185,2	K562	blood:
4	chr12:51631606..51634068-chr12:51733691..51737462,4	K562	blood:
5	chr12:51734941..51739498-chr12:51744423..51748065,5	K562	blood:
6	chr12:51417210..51419403-chr12:51735498..51737937,2	K562	blood:
7	chr12:51734275..51737716-chr12:51737747..51740483,3	K562	blood:
8	chr12:51735794..51738588-chr12:51760014..51762063,2	K562	blood:
9	chr12:51475789..51477380-chr12:51735729..51737618,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000110925	Chromatin interaction
ENSG00000183283	Chromatin interaction
ENSG00000110911	Chromatin interaction
ENSG00000184271	Chromatin interaction
ENSG00000139610	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10783431	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11169806	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11169813	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11612245	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12305814	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12816187	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2006749	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3847862	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4335588	0.82[EUR][1000 genomes]
rs56869579	0.83[EUR][1000 genomes]
rs7301933	0.81[EUR][1000 genomes]
rs934089	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9652000	0.90[EUR][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	nsv482304	chr12:51653496-51814917	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv832408	chr12:51696605-51871339	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51724400-51739200	Weak transcription	Thymus	Thymus
2	chr12:51731800-51750600	Weak transcription	Spleen	Spleen
3	chr12:51734800-51740400	Enhancers	Primary B cells from peripheral blood	blood
4	chr12:51735000-51737400	Enhancers	NHEK	skin
5	chr12:51735200-51739000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:51735200-51739200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:51735200-51740000	Weak transcription	Pancreas	Pancrea
8	chr12:51735400-51737000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:51735400-51739000	Enhancers	Primary B cells from cord blood	blood
10	chr12:51735400-51739000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:51735400-51739000	Weak transcription	HUVEC	blood vessel
12	chr12:51735400-51739200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:51735400-51739200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:51735400-51739200	Weak transcription	Gastric	stomach
15	chr12:51735400-51739200	Weak transcription	NH-A	brain
16	chr12:51735400-51739400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:51735400-51739400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:51735400-51739400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:51735400-51739400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:51735400-51739400	Weak transcription	HSMM	muscle
21	chr12:51735400-51739400	Weak transcription	Osteobl	bone
22	chr12:51735400-51739600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:51735400-51740200	Weak transcription	NHDF-Ad	bronchial
24	chr12:51735400-51741000	Weak transcription	Placenta	Placenta
25	chr12:51735400-51743000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:51735400-51743000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:51735400-51745400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr12:51735400-51745400	Weak transcription	Brain Substantia Nigra	brain
29	chr12:51735400-51745800	Weak transcription	Fetal Intestine Small	intestine
30	chr12:51735400-51746800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:51735400-51747400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:51735400-51747400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:51735400-51747400	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr12:51735400-51747600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr12:51735400-51747800	Weak transcription	NHLF	lung
36	chr12:51735400-51750200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:51735400-51750600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr12:51735400-51750600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr12:51735400-51756000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:51735600-51737400	Weak transcription	Fetal Thymus	thymus
41	chr12:51735600-51739200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:51735600-51739200	Weak transcription	K562	blood
43	chr12:51735600-51739400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:51735600-51746800	Weak transcription	Primary T cells from cord blood	blood
45	chr12:51735600-51750600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:51735600-51761400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:51735800-51739600	Weak transcription	A549	lung
48	chr12:51735800-51747400	Weak transcription	Dnd41	blood
49	chr12:51736000-51739200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:51736400-51739200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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