Variant report

Variant	rs12764334
Chromosome Location	chr10:18833841-18833842
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs1027193	0.82[AMR][1000 genomes]
rs10508562	0.96[EUR][1000 genomes]
rs10508563	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10764583	0.83[ASN][1000 genomes]
rs10828896	0.81[ASN][1000 genomes]
rs11014981	0.83[AMR][1000 genomes]
rs11015435	0.84[AMR][1000 genomes]
rs11511084	0.83[AMR][1000 genomes]
rs11593617	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11597737	0.82[AMR][1000 genomes]
rs11812341	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11812501	0.82[AMR][1000 genomes]
rs11815228	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12098599	0.83[AMR][1000 genomes]
rs12569474	0.81[ASN][1000 genomes]
rs12762481	0.85[AMR][1000 genomes]
rs12762752	0.84[AMR][1000 genomes]
rs12764398	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12765026	0.83[AMR][1000 genomes]
rs12765238	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12766105	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12766314	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12767546	0.96[ASN][1000 genomes]
rs12767923	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12769425	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12770851	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12772009	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12772058	0.86[EUR][1000 genomes]
rs12772522	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12774519	0.82[AMR][1000 genomes]
rs12774593	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12775419	0.88[AMR][1000 genomes]
rs12775446	0.96[ASN][1000 genomes]
rs12778035	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12779641	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12779694	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12781208	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12782882	0.81[AMR][1000 genomes]
rs12784711	0.82[AMR][1000 genomes]
rs12784986	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12785031	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2130531	0.84[AMR][1000 genomes]
rs2228645	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34237250	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34359432	0.82[AMR][1000 genomes]
rs3740104	0.84[AMR][1000 genomes]
rs3817494	0.81[ASN][1000 genomes]
rs4237349	0.82[AMR][1000 genomes]
rs4310518	0.83[AMR][1000 genomes]
rs4314963	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4445544	0.82[AMR][1000 genomes]
rs4468242	0.82[AMR][1000 genomes]
rs4575162	0.81[EUR][1000 genomes]
rs4747355	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4748481	0.81[ASN][1000 genomes]
rs4748482	0.82[ASN][1000 genomes]
rs4748487	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4748490	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4748496	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4748497	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4748498	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4748499	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56386348	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61842187	0.85[AMR][1000 genomes]
rs6482515	0.94[ASN][1000 genomes]
rs7071300	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7072963	0.81[AMR][1000 genomes]
rs7074644	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7075135	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7085318	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7086757	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7089083	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7093454	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7096923	0.83[AMR][1000 genomes]
rs7097001	0.82[ASN][1000 genomes]
rs7099423	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72787951	0.81[ASN][1000 genomes]
rs7904016	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7904949	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7905365	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7907891	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7909814	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7919487	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7923480	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv550042	chr10:18683267-18994583	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1042073	chr10:18806900-18838303	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv34545	chr10:18821185-18908294	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	esv1793653	chr10:18827828-18888369	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	esv1794817	chr10:18827828-18888369	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	esv1811259	chr10:18827828-18888369	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	esv1840241	chr10:18827828-18888369	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	esv1841068	chr10:18827828-18888369	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	esv1851495	chr10:18827828-18888369	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	esv1835982	chr10:18833550-18872699	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12764334	ARL5B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18815200-18843600	Weak transcription	A549	lung
2	chr10:18816400-18841800	Strong transcription	Liver	Liver
3	chr10:18820800-18841600	Weak transcription	Hela-S3	cervix
4	chr10:18822000-18840400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr10:18822000-18848000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr10:18822800-18841800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:18823400-18834800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr10:18823600-18836600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr10:18824200-18834800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr10:18824200-18846200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr10:18824200-18850600	Weak transcription	NHLF	lung
12	chr10:18825000-18835800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr10:18825600-18841800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr10:18827000-18835800	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr10:18827200-18842000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr10:18827200-18845200	Weak transcription	NHEK	skin
17	chr10:18827400-18841600	Weak transcription	HMEC	breast
18	chr10:18827600-18839400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr10:18828200-18835000	Weak transcription	Fetal Brain Male	brain
20	chr10:18828600-18837800	Weak transcription	Psoas Muscle	Psoas
21	chr10:18828600-18838800	Weak transcription	Colonic Mucosa	Colon
22	chr10:18828600-18841600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr10:18828600-18841600	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr10:18828600-18841800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr10:18828600-18841800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr10:18828600-18841800	Weak transcription	Pancreas	Pancrea
27	chr10:18828600-18843000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr10:18828600-18843400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr10:18828600-18844400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr10:18828600-18845400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr10:18828800-18846000	Weak transcription	Spleen	Spleen
32	chr10:18829000-18840400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr10:18829000-18841800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr10:18829200-18851200	Weak transcription	Esophagus	oesophagus
35	chr10:18829800-18837400	Weak transcription	GM12878-XiMat	blood
36	chr10:18829800-18838000	Weak transcription	Right Ventricle	heart
37	chr10:18829800-18844000	Weak transcription	Brain Angular Gyrus	brain
38	chr10:18830000-18842000	Weak transcription	Fetal Brain Female	brain
39	chr10:18830000-18842400	Weak transcription	Brain Germinal Matrix	brain
40	chr10:18830200-18841400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr10:18830200-18841800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr10:18830200-18841800	Weak transcription	Aorta	Aorta
43	chr10:18830200-18851000	Weak transcription	Thymus	Thymus
44	chr10:18830400-18834000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr10:18830400-18834400	Weak transcription	HSMM	muscle
46	chr10:18830400-18837000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr10:18830400-18837800	Weak transcription	Primary B cells from cord blood	blood
48	chr10:18830400-18838400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr10:18830400-18839200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr10:18830400-18840000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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