Variant report

Variant	rs12253134
Chromosome Location	chr10:50104678-50104679
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50100816..50103607-chr10:50104193..50105743,2	K562	blood:
2	chr10:50103563..50106374-chr10:50108506..50110662,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11101510	1.00[AMR][1000 genomes]
rs11101539	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11101546	1.00[AMR][1000 genomes]
rs12241547	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12249664	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12251201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12255123	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12257888	1.00[AMR][1000 genomes]
rs12267445	0.93[AFR][1000 genomes];1.00[AMR][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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831865	chr10:49994254-50164239	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv975799	chr10:50102058-50106456	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50072800-50126200	Strong transcription	Primary B cells from peripheral blood	blood
2	chr10:50074200-50107000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr10:50074600-50129600	Strong transcription	Primary B cells from cord blood	blood
4	chr10:50075400-50126000	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr10:50088000-50109400	Weak transcription	Right Atrium	heart
6	chr10:50092600-50106800	Weak transcription	Primary T cells from cord blood	blood
7	chr10:50096600-50106200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr10:50096600-50107800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr10:50098000-50105400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr10:50098000-50110000	Strong transcription	Primary hematopoietic stem cells	blood
11	chr10:50098200-50110200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr10:50099600-50108400	Weak transcription	Adipose Nuclei	Adipose
13	chr10:50101600-50122800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr10:50102000-50107000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr10:50102400-50105000	Enhancers	Fetal Stomach	stomach
16	chr10:50102600-50104800	Enhancers	Fetal Lung	lung
17	chr10:50102600-50104800	Enhancers	Fetal Muscle Trunk	muscle
18	chr10:50102600-50105200	Enhancers	Fetal Muscle Leg	muscle
19	chr10:50102600-50106000	Strong transcription	Spleen	Spleen
20	chr10:50103200-50104800	Enhancers	Ovary	ovary
21	chr10:50103400-50108400	Weak transcription	Left Ventricle	heart
22	chr10:50103600-50105200	Weak transcription	NHDF-Ad	bronchial
23	chr10:50103600-50105800	Weak transcription	GM12878-XiMat	blood
24	chr10:50104000-50104800	Enhancers	Fetal Kidney	kidney
25	chr10:50104000-50115800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr10:50104600-50104800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr10:50104600-50105000	Enhancers	Colonic Mucosa	Colon
28	chr10:50104600-50105000	Enhancers	Lung	lung
29	chr10:50104600-50105200	Enhancers	Right Ventricle	heart
30	chr10:50104600-50105400	Enhancers	Gastric	stomach

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