Variant report

Variant	rs12512105
Chromosome Location	chr4:126349182-126349183
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	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10084892	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11939811	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11944077	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12498276	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12501179	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12504612	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12511204	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009618	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17009635	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009673	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2710593	0.85[EUR][1000 genomes]
rs4272024	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4833325	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58972262	0.82[ASN][1000 genomes]
rs59208392	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6840704	0.81[ASN][1000 genomes]
rs73849218	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73849222	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73849223	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs885271	0.86[ASN][1000 genomes]
rs9968420	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:126312000-126354400	Weak transcription	HSMM	muscle
2	chr4:126316600-126354600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:126320200-126354400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:126334600-126390400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr4:126335200-126353200	Weak transcription	Psoas Muscle	Psoas
6	chr4:126335200-126400800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:126336800-126351000	Weak transcription	Fetal Brain Male	brain
8	chr4:126337000-126364400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr4:126337800-126356000	Weak transcription	Adipose Nuclei	Adipose
10	chr4:126337800-126356600	Weak transcription	Liver	Liver
11	chr4:126338400-126353200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:126338600-126371000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr4:126338800-126371400	Weak transcription	Fetal Intestine Large	intestine
14	chr4:126339000-126355400	Weak transcription	Left Ventricle	heart
15	chr4:126341200-126349200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr4:126342000-126353200	Weak transcription	Fetal Heart	heart
17	chr4:126342400-126375400	Weak transcription	Right Ventricle	heart
18	chr4:126342600-126371800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr4:126343000-126354200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:126343200-126354400	Weak transcription	HUVEC	blood vessel
21	chr4:126345000-126353200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:126345000-126353200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:126345000-126354200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr4:126345000-126355400	Weak transcription	Fetal Muscle Leg	muscle
25	chr4:126345000-126355800	Weak transcription	Aorta	Aorta
26	chr4:126345000-126369600	Weak transcription	Ovary	ovary
27	chr4:126345000-126371400	Weak transcription	Fetal Stomach	stomach
28	chr4:126345000-126371800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:126345000-126373200	Weak transcription	Lung	lung
30	chr4:126345600-126355400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:126345600-126369400	Weak transcription	Fetal Kidney	kidney
32	chr4:126345600-126369600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:126345600-126369600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:126345800-126351000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr4:126345800-126352200	Weak transcription	Fetal Lung	lung
36	chr4:126345800-126355400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr4:126346200-126349400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:126347200-126353000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr4:126347400-126351000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr4:126347600-126351000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr4:126347800-126382800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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