Variant report

Variant	rs7134004
Chromosome Location	chr12:59473503-59473504
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10506353	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10735877	0.94[EUR][1000 genomes]
rs11831827	0.86[ASN][1000 genomes]
rs12423606	0.83[EUR][1000 genomes]
rs1444089	0.84[EUR][1000 genomes]
rs1444090	0.92[EUR][1000 genomes]
rs17121768	0.82[ASN][1000 genomes]
rs17122093	0.83[EUR][1000 genomes]
rs17536158	0.82[ASN][1000 genomes]
rs17537478	0.97[ASN][1000 genomes]
rs17625922	0.97[ASN][1000 genomes]
rs17626131	0.97[ASN][1000 genomes]
rs17628225	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4760146	0.82[ASN][1000 genomes]
rs4760258	0.82[AFR][1000 genomes]
rs55670466	0.97[ASN][1000 genomes]
rs56042852	0.85[ASN][1000 genomes]
rs56299412	0.82[ASN][1000 genomes]
rs56376361	0.82[ASN][1000 genomes]
rs59263143	0.85[ASN][1000 genomes]
rs61934327	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61934328	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61934330	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61934332	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61934333	0.83[EUR][1000 genomes]
rs767773	0.82[ASN][1000 genomes]
rs7954165	0.82[AFR][1000 genomes]
rs7955499	0.88[ASN][1000 genomes]
rs907344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9668093	0.85[ASN][1000 genomes]
rs978615	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1047257	chr12:59444966-59520330	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1050662	chr12:59444966-59526442	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59465800-59478000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:59468400-59489000	Weak transcription	Esophagus	oesophagus
3	chr12:59468800-59474200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr12:59470000-59474400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:59470200-59474400	Enhancers	Stomach Mucosa	stomach
6	chr12:59471600-59477000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:59471800-59477600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:59471800-59478800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:59471800-59480000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:59472000-59474200	Enhancers	HMEC	breast
11	chr12:59472000-59475400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:59472000-59476200	Weak transcription	Fetal Intestine Large	intestine
13	chr12:59472000-59477800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr12:59472000-59478200	Weak transcription	Fetal Muscle Leg	muscle
15	chr12:59472200-59477000	Weak transcription	Fetal Stomach	stomach
16	chr12:59472200-59477400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:59472200-59477600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:59472200-59477600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:59472400-59473800	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr12:59472600-59473800	Flanking Active TSS	NHEK	skin
21	chr12:59472600-59474000	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr12:59472800-59473600	Enhancers	Gastric	stomach
23	chr12:59473000-59476200	Weak transcription	Fetal Intestine Small	intestine
24	chr12:59473000-59477600	Weak transcription	Fetal Lung	lung
25	chr12:59473200-59475600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:59473200-59477000	Weak transcription	Small Intestine	intestine
27	chr12:59473400-59473800	Enhancers	HUVEC	blood vessel
28	chr12:59473400-59474400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:59473400-59474400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:59473400-59477600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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