Variant report

Variant	rs7923480
Chromosome Location	chr10:18905665-18905666
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:18883515..18884111-chr10:18904979..18905887,2	MCF-7	breast:
2	chr10:18904719..18906384-chr10:18907466..18910292,2	K562	blood:

Extended variants
information (count: 162 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:156)

rs_ID	r²[population]
rs1027193	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10508562	0.80[CEU][hapmap];0.82[YRI][hapmap];0.83[EUR][1000 genomes]
rs10508563	0.80[CEU][hapmap];0.83[EUR][1000 genomes]
rs1055116	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs10734063	0.86[ASN][1000 genomes]
rs10741091	0.80[JPT][hapmap]
rs10741111	0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs10741115	0.94[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs10764582	0.88[CHB][hapmap];0.95[JPT][hapmap]
rs10764600	0.84[ASN][1000 genomes]
rs10764601	0.94[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs10764602	0.84[ASN][1000 genomes]
rs10764603	0.84[ASN][1000 genomes]
rs10764604	0.84[ASN][1000 genomes]
rs10764605	0.83[ASN][1000 genomes]
rs10764625	0.94[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs10764640	0.85[ASN][1000 genomes]
rs10828851	0.85[JPT][hapmap]
rs10828870	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs10828871	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs10828896	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs10828965	0.84[ASN][1000 genomes]
rs10828975	0.94[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs10828983	0.84[ASN][1000 genomes]
rs10828991	0.85[ASN][1000 genomes]
rs10829009	0.85[ASN][1000 genomes]
rs10829022	0.94[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs10829037	0.94[CHB][hapmap];0.84[JPT][hapmap];0.91[ASN][1000 genomes]
rs10829039	0.93[ASN][1000 genomes]
rs10829058	0.94[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs10829060	0.84[ASN][1000 genomes]
rs10829070	0.94[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs10829151	0.94[CHB][hapmap]
rs11014981	0.90[JPT][hapmap];0.91[YRI][hapmap];0.80[AMR][1000 genomes]
rs11015048	0.84[ASN][1000 genomes]
rs11015077	0.84[ASN][1000 genomes]
rs11015196	0.93[ASN][1000 genomes]
rs11015255	0.84[ASN][1000 genomes]
rs11015312	0.94[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs11015435	0.80[CEU][hapmap];0.90[YRI][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11511084	0.90[JPT][hapmap];0.90[YRI][hapmap];0.80[AMR][1000 genomes]
rs11525266	0.82[ASN][1000 genomes]
rs11540309	0.94[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11593617	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11597110	0.88[EUR][1000 genomes]
rs11597737	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11812341	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11812501	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11815228	0.94[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12098599	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12219183	0.86[ASN][1000 genomes]
rs12359758	0.84[ASN][1000 genomes]
rs12762481	0.80[CEU][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12762752	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12764334	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12764398	0.83[EUR][1000 genomes]
rs12765026	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12765238	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12766105	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12766314	0.80[CEU][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12767046	0.83[AMR][1000 genomes]
rs12767923	0.80[CEU][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12769425	0.80[CEU][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12770851	0.80[CEU][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12772009	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12772522	0.90[JPT][hapmap];0.91[YRI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12773254	0.85[EUR][1000 genomes]
rs12774519	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12774593	0.83[EUR][1000 genomes]
rs12775419	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12778035	0.80[CEU][hapmap];0.90[JPT][hapmap];0.91[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12778992	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12779641	0.80[CEU][hapmap]
rs12779694	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12780652	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12781208	0.80[CEU][hapmap];0.90[JPT][hapmap];0.91[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12782882	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12784555	0.91[YRI][hapmap]
rs12784711	0.91[AMR][1000 genomes]
rs12784986	0.80[CEU][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12785031	0.94[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1880681	0.89[EUR][1000 genomes]
rs2130531	0.80[CEU][hapmap];0.90[YRI][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2171922	0.80[CEU][hapmap];0.91[YRI][hapmap];0.85[EUR][1000 genomes]
rs2228645	0.80[CEU][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes]
rs2272274	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs34237250	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34359432	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35766272	0.83[AMR][1000 genomes]
rs3740102	0.88[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs3740104	0.80[CEU][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3817494	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs4237349	0.80[CEU][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4310518	0.85[JPT][hapmap];0.81[YRI][hapmap];0.90[AMR][1000 genomes]
rs4314963	0.80[CEU][hapmap];0.83[EUR][1000 genomes]
rs4445544	0.94[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[ASN][1000 genomes]
rs4468242	0.80[CEU][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4573590	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4575162	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4628589	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4747355	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4748487	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4748488	0.94[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs4748490	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4748492	0.84[ASN][1000 genomes]
rs4748496	0.93[CEU][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4748497	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4748498	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4748499	0.80[CEU][hapmap];0.90[JPT][hapmap];0.91[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5022622	0.94[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs55927700	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56386348	0.83[EUR][1000 genomes]
rs56410858	0.81[ASN][1000 genomes]
rs57066269	0.84[ASN][1000 genomes]
rs57579336	0.84[ASN][1000 genomes]
rs61663155	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61842187	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62636218	0.84[ASN][1000 genomes]
rs6482515	0.84[JPT][hapmap]
rs6482533	0.94[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs6482597	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs7071300	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7072624	0.80[CEU][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7072963	0.90[JPT][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7074644	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7075135	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7077722	0.84[ASN][1000 genomes]
rs7081461	0.88[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs7081977	0.84[ASN][1000 genomes]
rs7085318	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7086757	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7088091	0.85[JPT][hapmap]
rs7089083	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7093454	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7096923	0.90[JPT][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7099260	0.94[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs7099423	0.80[CEU][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7100880	0.94[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs72787963	0.84[ASN][1000 genomes]
rs7477076	0.84[ASN][1000 genomes]
rs7894016	0.84[ASN][1000 genomes]
rs7895784	0.94[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs7897159	0.80[CEU][hapmap];0.81[JPT][hapmap];0.81[YRI][hapmap];0.85[EUR][1000 genomes]
rs7898513	0.80[JPT][hapmap]
rs7898781	0.83[ASN][1000 genomes]
rs7899017	0.84[ASN][1000 genomes]
rs7904016	0.93[CEU][hapmap];0.89[JPT][hapmap];0.89[YRI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7904263	0.84[ASN][1000 genomes]
rs7904949	0.82[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7905365	0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7907891	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7909814	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7917584	0.85[JPT][hapmap]
rs7919487	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7922550	0.85[JPT][hapmap]
rs7922829	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	esv2757371	chr10:18835325-18906507	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv2759736	chr10:18835325-18906507	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv466760	chr10:18839350-18905935	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv550044	chr10:18839350-18905935	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7923480	ARL5B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18848400-18915800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr10:18849800-18910800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr10:18863000-18910800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr10:18867800-18916400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr10:18868000-18916200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr10:18869800-18910800	Weak transcription	Right Ventricle	heart
7	chr10:18870600-18908400	Weak transcription	Brain Substantia Nigra	brain
8	chr10:18870600-18916000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr10:18871600-18910000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr10:18872800-18916000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr10:18873200-18908200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr10:18873600-18916000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr10:18875000-18916000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr10:18875600-18912600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr10:18877200-18916200	Weak transcription	Thymus	Thymus
16	chr10:18877200-18916400	Weak transcription	Spleen	Spleen
17	chr10:18877400-18916200	Weak transcription	Pancreas	Pancrea
18	chr10:18877400-18916400	Weak transcription	Psoas Muscle	Psoas
19	chr10:18877600-18916400	Weak transcription	Gastric	stomach
20	chr10:18878000-18915600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr10:18881400-18916400	Weak transcription	Brain Angular Gyrus	brain
22	chr10:18882000-18916200	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr10:18884200-18916400	Weak transcription	Aorta	Aorta
24	chr10:18884600-18916400	Weak transcription	Brain Hippocampus Middle	brain
25	chr10:18884800-18909400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr10:18885400-18916200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr10:18885400-18916400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr10:18891600-18916400	Weak transcription	Lung	lung
29	chr10:18895400-18908000	Weak transcription	Fetal Brain Male	brain
30	chr10:18895600-18916400	Weak transcription	Left Ventricle	heart
31	chr10:18896400-18907200	Strong transcription	Primary T cells from cord blood	blood
32	chr10:18896600-18916400	Weak transcription	Colon Smooth Muscle	Colon
33	chr10:18896600-18916400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr10:18896800-18916000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr10:18897200-18906600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr10:18897200-18916400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr10:18898400-18916400	Weak transcription	Fetal Kidney	kidney
38	chr10:18898400-18916400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr10:18900000-18906600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr10:18900000-18910000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr10:18900000-18912600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr10:18900000-18915800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr10:18900000-18915800	Weak transcription	NHEK	skin
44	chr10:18900000-18916200	Weak transcription	NHLF	lung
45	chr10:18900000-18916600	Weak transcription	Stomach Mucosa	stomach
46	chr10:18900200-18906400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr10:18900200-18907400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr10:18900200-18907800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr10:18900200-18915800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr10:18900200-18916000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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