Variant report

Variant	rs12783517
Chromosome Location	chr10:21878407-21878408
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10828250	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10828252	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10828256	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10828258	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11012726	0.83[ASN][1000 genomes]
rs11012732	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11012737	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11012750	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11592565	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12253527	0.80[EUR][1000 genomes]
rs12356674	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12357321	1.00[ASN][1000 genomes]
rs1243179	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1243180	0.89[EUR][1000 genomes]
rs1243184	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1243185	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1243187	0.92[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1243188	0.86[EUR][1000 genomes]
rs1243189	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1269454	1.00[AFR][1000 genomes]
rs1270799	0.85[EUR][1000 genomes]
rs12769128	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12779865	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12784277	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2026092	0.89[EUR][1000 genomes]
rs34719019	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs35587371	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61850044	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6482188	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7084454	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7894565	0.93[EUR][1000 genomes]
rs7905967	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052477	chr10:21810270-21889726	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1036585	chr10:21833717-21998042	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv550202	chr10:21856475-22027644	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1052464	chr10:21856531-22220087	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	esv1802317	chr10:21866085-22288132	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv894947	chr10:21869609-22117913	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	esv1792771	chr10:21874152-22013644	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	esv1803077	chr10:21878144-22013644	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12783517	MLLT10	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:21824600-21930400	Weak transcription	Gastric	stomach
2	chr10:21839800-21880200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr10:21841200-21897200	Weak transcription	Fetal Kidney	kidney
4	chr10:21842200-21897200	Weak transcription	Fetal Brain Male	brain
5	chr10:21844600-21896600	Weak transcription	Hela-S3	cervix
6	chr10:21846800-21882200	Weak transcription	Brain Germinal Matrix	brain
7	chr10:21846800-21889600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr10:21846800-21892800	Weak transcription	HSMMtube	muscle
9	chr10:21846800-21913600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr10:21847000-21901200	Weak transcription	HUVEC	blood vessel
11	chr10:21848800-21914200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr10:21849400-21889600	Weak transcription	NHEK	skin
13	chr10:21849400-21913600	Weak transcription	Esophagus	oesophagus
14	chr10:21849800-21889400	Weak transcription	Brain Hippocampus Middle	brain
15	chr10:21849800-21894600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr10:21849800-21897000	Weak transcription	Fetal Brain Female	brain
17	chr10:21850800-21889600	Weak transcription	HMEC	breast
18	chr10:21856800-21913400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr10:21859400-21889800	Weak transcription	Pancreas	Pancrea
20	chr10:21860400-21886600	Weak transcription	Small Intestine	intestine
21	chr10:21860600-21879000	Weak transcription	Lung	lung
22	chr10:21860600-21895400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr10:21861200-21883000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr10:21861200-21890000	Weak transcription	Colon Smooth Muscle	Colon
25	chr10:21861400-21898400	Weak transcription	Brain Angular Gyrus	brain
26	chr10:21861400-21902800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr10:21861800-21878800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr10:21861800-21889600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr10:21861800-21895400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr10:21861800-21898400	Weak transcription	Brain Anterior Caudate	brain
31	chr10:21861800-21913800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr10:21862200-21894200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr10:21862400-21881600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr10:21862400-21913600	Weak transcription	Adipose Nuclei	Adipose
35	chr10:21862400-21916400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr10:21862800-21882000	Weak transcription	Ovary	ovary
37	chr10:21862800-21882200	Weak transcription	Primary T cells from cord blood	blood
38	chr10:21863800-21889000	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr10:21866000-21913600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr10:21870200-21882600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr10:21870600-21889800	Weak transcription	NHLF	lung
42	chr10:21870600-21900600	Weak transcription	Right Ventricle	heart
43	chr10:21870800-21879800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr10:21870800-21895000	Weak transcription	Osteobl	bone
45	chr10:21871000-21895000	Weak transcription	NH-A	brain
46	chr10:21871600-21880200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr10:21872200-21882200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr10:21872200-21897800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr10:21872800-21880000	Weak transcription	Primary B cells from cord blood	blood
50	chr10:21872800-21886400	Weak transcription	Primary hematopoietic stem cells	blood

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