Variant report

Variant	rs10741111
Chromosome Location	chr10:18903769-18903770
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:18897158..18899309-chr10:18901969..18904753,2	K562	blood:
2	chr10:18902407..18904405-chr10:18907032..18908667,2	K562	blood:
3	chr10:18896603..18898658-chr10:18901969..18903863,2	K562	blood:
4	chr10:18901454..18904568-chr10:18946720..18950711,3	K562	blood:

Variant related genes	Relation type
ENSG00000152487	Chromatin interaction
ENSG00000165997	Chromatin interaction

Extended variants
information (count: 136 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs1055116	0.95[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs10734063	0.90[ASN][1000 genomes]
rs10741091	0.90[JPT][hapmap]
rs10741115	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10741129	0.84[ASN][1000 genomes]
rs10741132	0.83[ASN][1000 genomes]
rs10764582	0.89[CHB][hapmap];0.95[JPT][hapmap]
rs10764600	0.95[ASN][1000 genomes]
rs10764601	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10764602	0.95[ASN][1000 genomes]
rs10764603	0.95[ASN][1000 genomes]
rs10764604	0.95[ASN][1000 genomes]
rs10764605	0.93[ASN][1000 genomes]
rs10764625	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10764640	0.89[ASN][1000 genomes]
rs10764691	0.83[ASN][1000 genomes]
rs10828851	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs10828870	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs10828871	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs10828896	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10828965	0.95[ASN][1000 genomes]
rs10828975	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10828976	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs10828983	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10828991	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10829009	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10829022	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10829037	1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs10829039	0.97[ASN][1000 genomes]
rs10829040	0.80[ASN][1000 genomes]
rs10829058	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10829060	0.88[ASN][1000 genomes]
rs10829067	0.90[CEU][hapmap]
rs10829070	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10829151	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs10829213	0.83[ASN][1000 genomes]
rs11014892	0.84[ASN][1000 genomes]
rs11014981	0.95[JPT][hapmap]
rs11015048	0.95[ASN][1000 genomes]
rs11015077	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11015105	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11015196	0.97[ASN][1000 genomes]
rs11015255	0.87[ASN][1000 genomes]
rs11015259	0.82[EUR][1000 genomes]
rs11015312	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11015421	0.82[ASN][1000 genomes]
rs11511084	0.94[JPT][hapmap]
rs11525266	0.93[ASN][1000 genomes]
rs11540309	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs11593617	0.88[ASN][1000 genomes]
rs11812341	0.89[ASN][1000 genomes]
rs11815228	0.94[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs12219183	0.90[ASN][1000 genomes]
rs12359758	0.88[ASN][1000 genomes]
rs12762481	0.94[JPT][hapmap]
rs12766105	0.94[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs12766314	0.94[JPT][hapmap]
rs12767923	0.95[JPT][hapmap]
rs12769425	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs12770851	0.89[JPT][hapmap]
rs12772522	0.94[JPT][hapmap]
rs12778035	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs12781208	0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs12784986	0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs12785031	0.94[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs2171922	0.84[JPT][hapmap]
rs2228645	0.89[JPT][hapmap]
rs2272274	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs3740102	0.94[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs3740104	0.95[JPT][hapmap]
rs3817494	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4237349	0.95[JPT][hapmap]
rs4310518	0.89[JPT][hapmap]
rs4314963	0.84[JPT][hapmap]
rs4445544	0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4468242	0.94[JPT][hapmap]
rs4747356	0.80[EUR][1000 genomes]
rs4748481	0.82[JPT][hapmap]
rs4748488	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4748492	0.94[ASN][1000 genomes]
rs4748496	0.95[JPT][hapmap]
rs4748497	0.89[ASN][1000 genomes]
rs4748499	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs4748509	0.83[ASN][1000 genomes]
rs5022622	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56410858	0.91[ASN][1000 genomes]
rs57066269	0.88[ASN][1000 genomes]
rs57579336	0.94[ASN][1000 genomes]
rs62634838	0.81[ASN][1000 genomes]
rs62636218	0.94[ASN][1000 genomes]
rs6482515	0.89[JPT][hapmap]
rs6482533	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6482597	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7072624	0.95[JPT][hapmap]
rs7072963	0.94[JPT][hapmap]
rs7077722	0.94[ASN][1000 genomes]
rs7079325	0.90[ASN][1000 genomes]
rs7081461	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7081972	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs7081977	0.88[ASN][1000 genomes]
rs7085318	0.88[ASN][1000 genomes]
rs7087030	0.82[ASN][1000 genomes]
rs7088091	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs7089083	0.81[ASN][1000 genomes]
rs7093454	0.88[ASN][1000 genomes]
rs7096923	0.94[JPT][hapmap]
rs7099260	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7099423	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs7100880	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs72787963	0.95[ASN][1000 genomes]
rs7477076	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7894016	0.95[ASN][1000 genomes]
rs7895784	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7897159	0.84[JPT][hapmap]
rs7898513	0.85[JPT][hapmap]
rs7898781	0.87[ASN][1000 genomes]
rs7899017	0.88[ASN][1000 genomes]
rs7904016	0.94[JPT][hapmap]
rs7904263	0.95[ASN][1000 genomes]
rs7904949	0.83[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs7905365	0.94[JPT][hapmap]
rs7907891	0.88[ASN][1000 genomes]
rs7909570	0.83[ASN][1000 genomes]
rs7909845	0.82[ASN][1000 genomes]
rs7910902	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7917584	0.89[JPT][hapmap]
rs7919487	0.88[ASN][1000 genomes]
rs7922550	0.90[JPT][hapmap]
rs7922829	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs7923480	0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]

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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10741111	RP11-499P20.2	cis	Nerve Tibial	GTEx
rs10741111	NSUN6	Cis_1M	lymphoblastoid	RTeQTL
rs10741111	RP11-499P20.2	cis	Thyroid	GTEx

Chromatin state (count:114 , 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	chr10:18868200-18904800	Weak transcription	HSMMtube	muscle
7	chr10:18869800-18910800	Weak transcription	Right Ventricle	heart
8	chr10:18870600-18908400	Weak transcription	Brain Substantia Nigra	brain
9	chr10:18870600-18916000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr10:18871600-18910000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr10:18872800-18916000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr10:18873200-18908200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr10:18873600-18916000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr10:18875000-18916000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr10:18875600-18912600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr10:18877200-18916200	Weak transcription	Thymus	Thymus
17	chr10:18877200-18916400	Weak transcription	Spleen	Spleen
18	chr10:18877400-18916200	Weak transcription	Pancreas	Pancrea
19	chr10:18877400-18916400	Weak transcription	Psoas Muscle	Psoas
20	chr10:18877600-18916400	Weak transcription	Gastric	stomach
21	chr10:18878000-18915600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr10:18881400-18916400	Weak transcription	Brain Angular Gyrus	brain
23	chr10:18882000-18916200	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr10:18884200-18916400	Weak transcription	Aorta	Aorta
25	chr10:18884600-18916400	Weak transcription	Brain Hippocampus Middle	brain
26	chr10:18884800-18909400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr10:18885200-18904400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr10:18885400-18916200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr10:18885400-18916400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr10:18891600-18916400	Weak transcription	Lung	lung
31	chr10:18895400-18908000	Weak transcription	Fetal Brain Male	brain
32	chr10:18895600-18916400	Weak transcription	Left Ventricle	heart
33	chr10:18896400-18907200	Strong transcription	Primary T cells from cord blood	blood
34	chr10:18896600-18916400	Weak transcription	Colon Smooth Muscle	Colon
35	chr10:18896600-18916400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr10:18896800-18916000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr10:18897200-18906600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr10:18897200-18916400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr10:18898400-18916400	Weak transcription	Fetal Kidney	kidney
40	chr10:18898400-18916400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr10:18900000-18904600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr10:18900000-18906600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr10:18900000-18910000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr10:18900000-18912600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr10:18900000-18915800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr10:18900000-18915800	Weak transcription	NHEK	skin
47	chr10:18900000-18916200	Weak transcription	NHLF	lung
48	chr10:18900000-18916600	Weak transcription	Stomach Mucosa	stomach
49	chr10:18900200-18906400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr10:18900200-18907400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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