Variant report

Variant	rs34215045
Chromosome Location	chr1:10361679-10361680
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10492971	0.81[EUR][1000 genomes]
rs10492972	0.87[EUR][1000 genomes]
rs1049887	0.88[EUR][1000 genomes]
rs11121531	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11121532	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11121533	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11121537	0.83[EUR][1000 genomes]
rs11121544	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11121545	0.85[EUR][1000 genomes]
rs11121552	0.89[EUR][1000 genomes]
rs11576459	0.81[EUR][1000 genomes]
rs11576654	0.89[EUR][1000 genomes]
rs11576866	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11578694	0.87[EUR][1000 genomes]
rs11578788	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11580789	0.83[EUR][1000 genomes]
rs11582123	0.82[EUR][1000 genomes]
rs11584023	0.82[EUR][1000 genomes]
rs11585760	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12119477	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12120042	0.81[EUR][1000 genomes]
rs12120191	0.81[EUR][1000 genomes]
rs12122029	0.81[EUR][1000 genomes]
rs12125535	0.80[EUR][1000 genomes]
rs12127553	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12127604	0.81[EUR][1000 genomes]
rs12129035	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12130220	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12130563	0.84[EUR][1000 genomes]
rs12131441	0.84[EUR][1000 genomes]
rs12132635	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12133125	0.81[ASN][1000 genomes]
rs12136376	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12137456	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12137880	0.86[EUR][1000 genomes]
rs12141416	0.87[EUR][1000 genomes]
rs12402052	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12403443	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12406776	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12407992	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12408019	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12409933	0.81[AMR][1000 genomes]
rs12722830	0.85[EUR][1000 genomes]
rs12734068	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12734551	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12755094	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12755363	0.82[EUR][1000 genomes]
rs1339458	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1536263	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1555849	0.85[EUR][1000 genomes]
rs17034643	0.81[EUR][1000 genomes]
rs17034821	0.85[EUR][1000 genomes]
rs17396382	0.80[EUR][1000 genomes]
rs17400510	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17401924	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17401966	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17410217	0.84[EUR][1000 genomes]
rs17410793	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17411502	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1889309	0.83[EUR][1000 genomes]
rs2004034	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2039778	0.81[EUR][1000 genomes]
rs2185252	0.85[EUR][1000 genomes]
rs2275424	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2276100	0.85[EUR][1000 genomes]
rs34225619	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35187325	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35388505	0.82[EUR][1000 genomes]
rs35766535	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35830240	0.81[ASN][1000 genomes]
rs35837142	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35850116	0.82[EUR][1000 genomes]
rs3748577	0.87[EUR][1000 genomes]
rs3748578	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3748579	0.85[EUR][1000 genomes]
rs3753037	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4240911	0.85[EUR][1000 genomes]
rs4259656	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4623	0.81[EUR][1000 genomes]
rs4845931	0.81[EUR][1000 genomes]
rs4845933	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4845934	0.83[EUR][1000 genomes]
rs4846205	0.85[EUR][1000 genomes]
rs4846208	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4846210	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4846212	0.81[EUR][1000 genomes]
rs4846213	0.85[EUR][1000 genomes]
rs58053556	0.88[EUR][1000 genomes]
rs58549151	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58697740	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60743860	0.89[EUR][1000 genomes]
rs61778376	0.85[EUR][1000 genomes]
rs61778399	0.84[EUR][1000 genomes]
rs61778401	0.84[EUR][1000 genomes]
rs61778403	0.82[EUR][1000 genomes]
rs6674843	0.88[EUR][1000 genomes]
rs6700866	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs746881	0.87[EUR][1000 genomes]
rs7520651	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7520935	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7524693	0.81[EUR][1000 genomes]
rs7530167	0.89[EUR][1000 genomes]
rs7553228	0.81[EUR][1000 genomes]
rs912961	0.87[EUR][1000 genomes]
rs912963	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv545381	chr1:10296452-10423988	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv545382	chr1:10309026-10377221	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34215045	KIF1B	cis	Thyroid	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10272600-10368200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:10314200-10363400	Weak transcription	Fetal Brain Male	brain
3	chr1:10315400-10373400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:10316800-10380200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:10318400-10367600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:10320600-10363000	Weak transcription	Gastric	stomach
7	chr1:10322800-10363200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:10331600-10368000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:10332200-10363800	Weak transcription	Thymus	Thymus
10	chr1:10344000-10363400	Weak transcription	K562	blood
11	chr1:10345600-10361800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:10347400-10363200	Weak transcription	Pancreas	Pancrea
13	chr1:10347400-10365400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:10347800-10366800	Strong transcription	HSMM	muscle
15	chr1:10348200-10367600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr1:10349800-10369400	Weak transcription	Right Atrium	heart
17	chr1:10350000-10363400	Weak transcription	Spleen	Spleen
18	chr1:10352000-10366800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:10352600-10366000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:10352600-10381800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:10352800-10363200	Weak transcription	A549	lung
22	chr1:10353200-10381800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr1:10355000-10366000	Strong transcription	Liver	Liver
24	chr1:10356600-10363200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:10356600-10368000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:10356800-10367800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr1:10356800-10368000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:10357200-10361800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:10357200-10363400	Weak transcription	Fetal Intestine Small	intestine
30	chr1:10357200-10368000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:10357400-10362800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:10357400-10385600	Weak transcription	Small Intestine	intestine
33	chr1:10357600-10363200	Weak transcription	Colonic Mucosa	Colon
34	chr1:10357600-10363400	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr1:10357600-10363400	Weak transcription	Right Ventricle	heart
36	chr1:10357600-10397000	Weak transcription	Fetal Thymus	thymus
37	chr1:10357800-10363400	Weak transcription	Fetal Kidney	kidney
38	chr1:10357800-10363800	Weak transcription	Fetal Heart	heart
39	chr1:10358000-10361800	Weak transcription	HepG2	liver
40	chr1:10358000-10362400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:10358000-10362600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:10358000-10362600	Weak transcription	Ovary	ovary
43	chr1:10358000-10363200	Weak transcription	Esophagus	oesophagus
44	chr1:10358000-10363200	Weak transcription	Lung	lung
45	chr1:10358000-10363200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:10358000-10363200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr1:10358000-10363200	Weak transcription	NHEK	skin
48	chr1:10358000-10363400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:10358000-10363400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr1:10358000-10363400	Weak transcription	Aorta	Aorta

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