Variant report

Variant	rs11050129
Chromosome Location	chr12:29363594-29363595
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10843330	0.81[EUR][1000 genomes]
rs10843331	0.81[EUR][1000 genomes]
rs10843332	0.81[EUR][1000 genomes]
rs10843333	0.82[EUR][1000 genomes]
rs10843334	0.81[EUR][1000 genomes]
rs10843336	0.92[EUR][1000 genomes]
rs10843338	0.96[EUR][1000 genomes]
rs11050076	0.81[EUR][1000 genomes]
rs11050077	0.81[EUR][1000 genomes]
rs11050095	0.96[EUR][1000 genomes]
rs11050096	0.96[EUR][1000 genomes]
rs11050103	0.96[EUR][1000 genomes]
rs11050113	0.93[EUR][1000 genomes]
rs11050125	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12581588	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1390536	0.82[EUR][1000 genomes]
rs1390537	0.81[EUR][1000 genomes]
rs34844277	0.80[EUR][1000 genomes]
rs73071989	0.81[EUR][1000 genomes]
rs7309466	0.95[EUR][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	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29325400-29364600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:29359200-29364000	Enhancers	Fetal Intestine Small	intestine
3	chr12:29359200-29366400	Enhancers	Fetal Intestine Large	intestine
4	chr12:29360400-29363600	Weak transcription	Small Intestine	intestine
5	chr12:29360400-29381000	Weak transcription	HUVEC	blood vessel
6	chr12:29361000-29364600	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr12:29361400-29363600	Weak transcription	Adipose Nuclei	Adipose
8	chr12:29361400-29364200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr12:29361800-29365400	Weak transcription	Colonic Mucosa	Colon
10	chr12:29362000-29364200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr12:29362000-29368800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:29362400-29363600	Weak transcription	Fetal Muscle Leg	muscle
13	chr12:29362600-29363600	Weak transcription	Fetal Brain Male	brain
14	chr12:29362600-29364000	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr12:29362600-29364400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:29362600-29365200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr12:29362600-29369800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr12:29362800-29364400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:29362800-29364600	Enhancers	Duodenum Mucosa	Duodenum
20	chr12:29362800-29364800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:29363000-29363800	Enhancers	Rectal Mucosa Donor 29	rectum

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