Variant report

Variant	rs12751375
Chromosome Location	chr1:10291874-10291875
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 134 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs1002076	0.87[CEU][hapmap]
rs10492971	0.81[CEU][hapmap]
rs10492972	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs10492973	0.81[CEU][hapmap]
rs1049887	0.83[EUR][1000 genomes]
rs10864448	0.82[EUR][1000 genomes]
rs10864449	0.82[EUR][1000 genomes]
rs11121528	0.82[ASN][1000 genomes]
rs11121531	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11121532	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11121533	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11121544	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11121551	0.80[CEU][hapmap]
rs11121552	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs11576654	0.83[EUR][1000 genomes]
rs11576866	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11578694	0.82[EUR][1000 genomes]
rs11578788	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11579365	0.80[CEU][hapmap]
rs11580789	0.81[EUR][1000 genomes]
rs11580854	0.81[EUR][1000 genomes]
rs11582123	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs11584023	0.88[EUR][1000 genomes]
rs11585760	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11585794	0.88[CEU][hapmap]
rs11587309	0.91[CEU][hapmap]
rs11587495	0.92[CEU][hapmap]
rs12117765	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12119477	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12120042	0.80[CEU][hapmap]
rs12120191	0.80[CEU][hapmap]
rs12127553	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12127604	0.82[CEU][hapmap]
rs12129035	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12130220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12130563	0.92[CEU][hapmap]
rs12131441	0.91[CEU][hapmap]
rs12132635	0.89[EUR][1000 genomes]
rs12133125	0.87[ASN][1000 genomes]
rs12136376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12137456	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12137880	0.81[EUR][1000 genomes]
rs12141246	0.81[CEU][hapmap]
rs12141416	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs12402052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12403443	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12406776	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12407992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12408019	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12409754	0.91[CEU][hapmap]
rs12733312	0.96[CEU][hapmap];0.85[JPT][hapmap]
rs12734068	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12734551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12737239	0.92[CEU][hapmap]
rs12755094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12757288	0.81[CEU][hapmap]
rs12757820	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1339458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1536263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1538557	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs1555849	0.91[CEU][hapmap]
rs1556916	0.80[CEU][hapmap]
rs1556917	0.80[CEU][hapmap]
rs17034643	0.80[CEU][hapmap]
rs17034821	0.91[CEU][hapmap]
rs17396382	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs17400510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17401924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17401966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17410217	0.91[CEU][hapmap]
rs17410793	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17411502	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs1889309	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2004034	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2039778	0.80[CEU][hapmap]
rs2182326	0.80[CEU][hapmap]
rs2185252	0.91[CEU][hapmap]
rs2275424	0.95[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34215045	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34225619	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34565762	0.82[EUR][1000 genomes]
rs35111552	0.83[ASN][1000 genomes]
rs35187325	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35766535	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35830240	0.87[ASN][1000 genomes]
rs35837142	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35850116	0.89[EUR][1000 genomes]
rs3737155	0.91[CEU][hapmap]
rs3748577	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs3748578	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3753037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4240911	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs4259656	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4333852	0.80[CEU][hapmap]
rs4348727	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4475756	0.80[CEU][hapmap]
rs4529713	0.80[CEU][hapmap]
rs4623	0.80[CEU][hapmap]
rs4845933	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4846197	0.80[CEU][hapmap]
rs4846205	0.86[EUR][1000 genomes]
rs4846207	0.80[CEU][hapmap]
rs4846208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4846209	0.80[CEU][hapmap]
rs4846210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4846212	0.80[CEU][hapmap]
rs55676616	0.83[EUR][1000 genomes]
rs58053556	0.83[EUR][1000 genomes]
rs58549151	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58697740	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60743860	0.83[EUR][1000 genomes]
rs61784573	0.82[ASN][1000 genomes]
rs61784574	0.82[ASN][1000 genomes]
rs61784579	0.82[ASN][1000 genomes]
rs6541089	0.84[CEU][hapmap]
rs6674843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs6685895	0.82[EUR][1000 genomes]
rs6696056	0.80[CEU][hapmap]
rs6700866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs746881	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs7520259	0.82[ASN][1000 genomes]
rs7520651	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7520935	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7530167	0.83[EUR][1000 genomes]
rs7553228	0.81[CEU][hapmap]
rs8019	0.80[CEU][hapmap]
rs912961	0.84[EUR][1000 genomes]
rs912963	0.80[CEU][hapmap]
rs9332414	0.80[CEU][hapmap]
rs946501	0.80[CEU][hapmap]
rs946503	0.80[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv999251	chr1:10276263-10318163	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12751375	KIF1B	cis	Thyroid	GTEx

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10272600-10368200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:10272800-10296600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:10276800-10311800	Weak transcription	Hela-S3	cervix
4	chr1:10277000-10322000	Weak transcription	Spleen	Spleen
5	chr1:10278400-10295200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:10278400-10302000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:10278600-10294800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr1:10278800-10292400	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:10278800-10296400	Weak transcription	Fetal Lung	lung
10	chr1:10279800-10297800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:10281000-10294800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:10284800-10311000	Weak transcription	Small Intestine	intestine
13	chr1:10285000-10294000	Weak transcription	Fetal Stomach	stomach
14	chr1:10285200-10316000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:10285400-10292200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:10285400-10294000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:10285400-10302400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr1:10285400-10310800	Weak transcription	Aorta	Aorta
19	chr1:10285400-10312600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:10285600-10293200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:10285600-10294600	Weak transcription	Lung	lung
22	chr1:10285600-10295200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:10285800-10292000	Weak transcription	Psoas Muscle	Psoas
24	chr1:10285800-10293000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr1:10285800-10297000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:10286000-10292200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:10286000-10292200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:10286000-10293600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:10286000-10298000	Weak transcription	Right Atrium	heart
30	chr1:10286000-10301800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr1:10286000-10303000	Weak transcription	Brain Germinal Matrix	brain
32	chr1:10286200-10292400	Weak transcription	NH-A	brain
33	chr1:10286400-10294600	Weak transcription	Right Ventricle	heart
34	chr1:10286400-10297000	Weak transcription	HSMMtube	muscle
35	chr1:10286600-10294200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:10286800-10301600	Weak transcription	Fetal Kidney	kidney
37	chr1:10286800-10305800	Weak transcription	Ovary	ovary
38	chr1:10287400-10292600	Enhancers	HepG2	liver
39	chr1:10287400-10293200	Weak transcription	Left Ventricle	heart
40	chr1:10287400-10312400	Weak transcription	Pancreas	Pancrea
41	chr1:10287600-10292200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:10288600-10296400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:10288800-10292000	Weak transcription	Brain Substantia Nigra	brain
44	chr1:10288800-10292200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr1:10288800-10292400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:10288800-10293200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:10288800-10293800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr1:10289000-10292000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:10289000-10292000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr1:10289000-10292400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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