Variant report

Variant	rs12242840
Chromosome Location	chr10:45899259-45899260
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:45898269..45903798-chr10:45904032..45907291,6	K562	blood:

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10128228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10128306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11239499	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11239500	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11239503	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11239504	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12243292	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12247314	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12258640	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12263894	1.00[AMR][1000 genomes]
rs12267438	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12267863	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17153289	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58461537	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59051493	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9282584	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
5	nsv895108	chr10:45878908-46224333	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv895109	chr10:45882741-46210665	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	esv3349621	chr10:45882995-45906254	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45871400-45904600	Weak transcription	Gastric	stomach
2	chr10:45884000-45907400	Weak transcription	Spleen	Spleen
3	chr10:45891600-45899400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr10:45891600-45905200	Weak transcription	Pancreas	Pancrea
5	chr10:45891600-45907000	Weak transcription	Fetal Intestine Small	intestine
6	chr10:45891600-45914200	Weak transcription	Thymus	Thymus
7	chr10:45892000-45907000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr10:45894400-45899600	Weak transcription	GM12878-XiMat	blood
9	chr10:45894400-45912800	Weak transcription	Placenta	Placenta
10	chr10:45897800-45900600	Enhancers	Hela-S3	cervix
11	chr10:45897800-45900800	Genic enhancers	Primary B cells from cord blood	blood
12	chr10:45897800-45901600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr10:45898400-45901600	Enhancers	Primary hematopoietic stem cells	blood
14	chr10:45898600-45900200	Genic enhancers	Primary B cells from peripheral blood	blood
15	chr10:45898600-45901400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr10:45898600-45901600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr10:45899000-45901600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr10:45899200-45899400	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
19	chr10:45899200-45899400	Enhancers	Brain Hippocampus Middle	brain
20	chr10:45899200-45899400	Enhancers	Duodenum Mucosa	Duodenum
21	chr10:45899200-45899400	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr10:45899200-45899800	Enhancers	K562	blood
23	chr10:45899200-45900000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr10:45899200-45900800	Enhancers	Adipose Nuclei	Adipose
25	chr10:45899200-45900800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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