Variant report

Variant	rs17011252
Chromosome Location	chr10:50027329-50027330
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	chr10:50011032..50014812-chr10:50025927..50027937,3	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11101538	1.00[ASN][1000 genomes]
rs11101539	1.00[ASN][1000 genomes]
rs11101540	1.00[ASN][1000 genomes]
rs11101541	1.00[ASN][1000 genomes]
rs12255123	1.00[ASN][1000 genomes]
rs12260981	1.00[ASN][1000 genomes]
rs12263861	1.00[ASN][1000 genomes]
rs12265786	1.00[ASN][1000 genomes]
rs12267721	1.00[ASN][1000 genomes]
rs17011299	0.84[AFR][1000 genomes]
rs17011305	0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17011340	1.00[ASW][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17011346	1.00[ASW][hapmap];0.90[AMR][1000 genomes]
rs17011476	1.00[MEX][hapmap]
rs2127587	1.00[ASN][1000 genomes]
rs41390646	1.00[ASW][hapmap];0.86[LWK][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs57495630	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59424280	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73310070	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73312014	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73312016	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73312030	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73312042	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73312044	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73312052	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73312067	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73312070	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73312081	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7916176	0.82[ASW][hapmap];0.82[LWK][hapmap];0.84[AFR][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	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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50009600-50028000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr10:50013600-50028200	Strong transcription	Primary B cells from peripheral blood	blood
3	chr10:50013600-50061000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr10:50014200-50030000	Weak transcription	Right Atrium	heart
5	chr10:50015200-50063400	Strong transcription	Primary B cells from cord blood	blood
6	chr10:50015600-50029800	Weak transcription	Gastric	stomach
7	chr10:50016200-50063000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr10:50016200-50063000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr10:50016600-50062400	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr10:50019400-50029000	Weak transcription	Primary T cells from cord blood	blood
11	chr10:50020000-50052000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr10:50021200-50027800	Weak transcription	Fetal Thymus	thymus
13	chr10:50022600-50040400	Weak transcription	Lung	lung
14	chr10:50023400-50029200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr10:50025000-50062800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr10:50025200-50028600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr10:50025200-50028600	Strong transcription	Spleen	Spleen
18	chr10:50025200-50032000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr10:50025400-50029800	Weak transcription	Esophagus	oesophagus
20	chr10:50026000-50048200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr10:50026400-50027800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr10:50026600-50029400	Weak transcription	GM12878-XiMat	blood
23	chr10:50026800-50028400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr10:50027000-50027600	Enhancers	Brain Germinal Matrix	brain
25	chr10:50027200-50027600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
26	chr10:50027200-50027600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr10:50027200-50027600	Bivalent Enhancer	Fetal Brain Female	brain

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