Variant report

Variant	rs12501431
Chromosome Location	chr4:54376220-54376221
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:54375519..54377286-chr4:54400053..54402800,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10008334	0.81[EUR][1000 genomes]
rs10012853	0.81[EUR][1000 genomes]
rs10013573	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10028214	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1014056	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10517296	0.80[EUR][1000 genomes]
rs11133267	0.80[EUR][1000 genomes]
rs11935822	0.81[EUR][1000 genomes]
rs11944047	0.81[EUR][1000 genomes]
rs11946199	0.81[EUR][1000 genomes]
rs12499401	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12507723	0.81[EUR][1000 genomes]
rs13117240	0.81[EUR][1000 genomes]
rs13119372	0.81[EUR][1000 genomes]
rs13120051	0.81[EUR][1000 genomes]
rs13125807	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13130836	0.81[EUR][1000 genomes]
rs1351514	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1399241	0.81[EUR][1000 genomes]
rs17082659	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17082910	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2128103	0.81[EUR][1000 genomes]
rs2271555	0.81[EUR][1000 genomes]
rs2271557	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2292579	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34028346	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34173240	0.80[EUR][1000 genomes]
rs34317954	0.81[EUR][1000 genomes]
rs35033239	0.81[EUR][1000 genomes]
rs35089532	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35225781	0.81[EUR][1000 genomes]
rs35313782	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36090882	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3817270	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3946758	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3986364	0.80[EUR][1000 genomes]
rs6420001	0.81[EUR][1000 genomes]
rs6554095	0.81[EUR][1000 genomes]
rs6554096	0.81[EUR][1000 genomes]
rs6554103	0.81[EUR][1000 genomes]
rs6554108	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6834099	0.81[EUR][1000 genomes]
rs6835629	0.81[EUR][1000 genomes]
rs6846569	0.81[EUR][1000 genomes]
rs6847289	0.81[EUR][1000 genomes]
rs71597836	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7678953	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7684450	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7684894	0.81[EUR][1000 genomes]
rs7694840	0.81[EUR][1000 genomes]
rs997832	0.81[EUR][1000 genomes]
rs9992820	0.81[EUR][1000 genomes]
rs9997358	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9997844	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][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	nsv829936	chr4:54367783-54556123	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv21302	chr4:54375399-54378966	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	1 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	chr4:54343000-54385600	Weak transcription	Fetal Brain Female	brain
2	chr4:54343200-54376800	Weak transcription	Brain Anterior Caudate	brain
3	chr4:54347600-54401800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr4:54355200-54378600	Weak transcription	Fetal Brain Male	brain
5	chr4:54363200-54384200	Weak transcription	Esophagus	oesophagus
6	chr4:54363800-54384000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:54366600-54384200	Weak transcription	Pancreas	Pancrea
8	chr4:54368000-54376600	Weak transcription	Ovary	ovary
9	chr4:54372800-54388400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:54374400-54376600	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:54374400-54376800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr4:54374400-54399000	Weak transcription	Fetal Intestine Large	intestine
13	chr4:54374400-54421000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr4:54374600-54376800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr4:54374600-54377800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:54374800-54377000	Enhancers	Osteobl	bone
17	chr4:54374800-54377600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:54374800-54393600	Weak transcription	Placenta	Placenta
19	chr4:54375000-54376400	Weak transcription	Aorta	Aorta
20	chr4:54375000-54376400	Weak transcription	Liver	Liver
21	chr4:54375000-54376800	Weak transcription	Psoas Muscle	Psoas
22	chr4:54375000-54378000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:54375000-54393600	Weak transcription	Gastric	stomach
24	chr4:54375000-54398800	Weak transcription	Fetal Intestine Small	intestine
25	chr4:54375200-54377000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:54375400-54376800	Weak transcription	HSMM	muscle
27	chr4:54375400-54377200	Weak transcription	Stomach Mucosa	stomach
28	chr4:54375800-54377600	Enhancers	Right Atrium	heart
29	chr4:54376200-54376400	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr4:54376200-54376600	Weak transcription	Brain Angular Gyrus	brain
31	chr4:54376200-54377600	Enhancers	NHDF-Ad	bronchial
32	chr4:54376200-54378200	Enhancers	HSMMtube	muscle

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