Variant report

Variant	rs12252472
Chromosome Location	chr10:45877643-45877644
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:45869704..45872011-chr10:45875506..45878430,2	K562	blood:
2	chr10:45873911..45876149-chr10:45876487..45879214,3	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11239509	1.00[AMR][1000 genomes]
rs11239513	0.85[AFR][1000 genomes]
rs11499087	0.83[AMR][1000 genomes]
rs11813790	0.83[AMR][1000 genomes]
rs12242128	0.81[AFR][1000 genomes]
rs12264166	0.82[AFR][1000 genomes]
rs17157756	0.83[AMR][1000 genomes]
rs2228064	0.99[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895105	chr10:45636867-45928822	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv430166	chr10:45668894-46148794	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv993428	chr10:45742877-46224333	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv895107	chr10:45850300-45953767	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45870600-45891200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr10:45870800-45880400	Weak transcription	Esophagus	oesophagus
3	chr10:45871400-45904600	Weak transcription	Gastric	stomach
4	chr10:45871600-45894000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr10:45872200-45883800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr10:45874600-45877800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr10:45875200-45878000	Weak transcription	Fetal Intestine Small	intestine
8	chr10:45875400-45878600	Enhancers	Fetal Thymus	thymus
9	chr10:45875800-45877800	Weak transcription	Pancreas	Pancrea
10	chr10:45875800-45878400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:45875800-45891200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr10:45876000-45899200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr10:45876400-45879200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
14	chr10:45876600-45878000	Enhancers	Lung	lung
15	chr10:45876600-45878800	Weak transcription	Adipose Nuclei	Adipose
16	chr10:45876600-45879000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr10:45876600-45879400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr10:45876800-45884000	Strong transcription	Spleen	Spleen
19	chr10:45876800-45884400	Strong transcription	Primary B cells from peripheral blood	blood
20	chr10:45877000-45879000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr10:45877000-45880800	Genic enhancers	Primary monocytes fromperipheralblood	blood
22	chr10:45877000-45882800	Weak transcription	Brain Hippocampus Middle	brain
23	chr10:45877000-45891000	Weak transcription	Thymus	Thymus
24	chr10:45877200-45878200	Weak transcription	Placenta	Placenta
25	chr10:45877200-45878800	Genic enhancers	Monocytes-CD14+_RO01746	blood
26	chr10:45877200-45880000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr10:45877400-45879000	Strong transcription	Primary B cells from cord blood	blood
28	chr10:45877600-45880000	Strong transcription	GM12878-XiMat	blood

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