Variant report

Variant	rs12504612
Chromosome Location	chr4:126313903-126313904
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10014217	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10084892	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11939811	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11944077	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12498276	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12501179	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12511204	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12512105	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17009618	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17009635	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17009673	0.84[ASN][1000 genomes]
rs2710593	0.90[EUR][1000 genomes]
rs4272024	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4833325	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58972262	0.94[ASN][1000 genomes]
rs59208392	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6840704	0.92[ASN][1000 genomes]
rs73849218	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73849222	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73849223	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs885271	0.98[ASN][1000 genomes]
rs9968420	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006068	chr4:126103233-126497467	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv830051	chr4:126234895-126403426	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv470070	chr4:126299145-126408586	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:126290800-126317600	Weak transcription	Fetal Brain Male	brain
2	chr4:126308400-126336000	Weak transcription	Left Ventricle	heart
3	chr4:126310800-126317200	Weak transcription	Fetal Kidney	kidney
4	chr4:126310800-126336000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr4:126311000-126317600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:126311600-126314000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:126311600-126336000	Weak transcription	Aorta	Aorta
8	chr4:126311800-126314000	Weak transcription	Adipose Nuclei	Adipose
9	chr4:126311800-126314000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr4:126311800-126318200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr4:126311800-126318400	Weak transcription	Fetal Lung	lung
12	chr4:126311800-126323000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr4:126311800-126341800	Weak transcription	Fetal Heart	heart
14	chr4:126311800-126343600	Weak transcription	Fetal Stomach	stomach
15	chr4:126312000-126314000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr4:126312000-126314000	Weak transcription	NHDF-Ad	bronchial
17	chr4:126312000-126315000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:126312000-126315000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:126312000-126315000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:126312000-126319400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:126312000-126338200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:126312000-126354400	Weak transcription	HSMM	muscle
23	chr4:126312200-126314000	Weak transcription	Osteobl	bone
24	chr4:126312200-126342800	Weak transcription	NHLF	lung
25	chr4:126312400-126314000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr4:126312800-126315400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr4:126312800-126318200	Weak transcription	NHEK	skin
28	chr4:126313200-126314000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:126313400-126314600	Enhancers	Colon Smooth Muscle	Colon
30	chr4:126313400-126316000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:126313600-126314000	Enhancers	HUVEC	blood vessel
32	chr4:126313800-126314000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:126313800-126315200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:126313800-126315400	Enhancers	HUES48 Cell Line	embryonic stem cell

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