Variant report

Variant	rs12755094
Chromosome Location	chr1:10305711-10305712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 148 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:143)

rs_ID	r²[population]
rs1002076	0.87[CEU][hapmap]
rs1013952	0.82[EUR][1000 genomes]
rs10492971	0.81[CEU][hapmap]
rs10492972	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs10492973	0.81[CEU][hapmap]
rs1049887	0.85[EUR][1000 genomes]
rs11121528	0.81[ASN][1000 genomes]
rs11121531	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11121532	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11121533	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11121537	0.82[EUR][1000 genomes]
rs11121544	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11121545	0.82[EUR][1000 genomes]
rs11121551	0.80[CEU][hapmap]
rs11121552	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs11576654	0.86[EUR][1000 genomes]
rs11576866	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11578694	0.84[EUR][1000 genomes]
rs11578788	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11579365	0.80[CEU][hapmap]
rs11580789	0.83[EUR][1000 genomes]
rs11582123	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11584023	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11585760	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11585794	0.88[CEU][hapmap]
rs11587309	0.91[CEU][hapmap]
rs11587495	0.92[CEU][hapmap]
rs12117765	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12119477	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12120042	0.80[CEU][hapmap]
rs12120191	0.80[CEU][hapmap]
rs12127553	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127604	0.82[CEU][hapmap]
rs12129035	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12130220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12130563	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs12131441	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs12132635	0.92[EUR][1000 genomes]
rs12133125	0.85[ASN][1000 genomes]
rs12136376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12137456	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12137880	0.83[EUR][1000 genomes]
rs12141246	0.81[CEU][hapmap]
rs12141416	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs12402052	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]
rs12403443	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12406776	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12406943	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12407992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12408019	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12409137	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12409754	0.91[CEU][hapmap]
rs12722830	0.82[EUR][1000 genomes]
rs12733312	0.96[CEU][hapmap]
rs12734068	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12734551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12737239	0.92[CEU][hapmap]
rs12751375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12757288	0.81[CEU][hapmap]
rs12757820	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1339458	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]
rs1536263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1538557	0.80[CEU][hapmap]
rs1555849	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs1556916	0.80[CEU][hapmap]
rs1556917	0.80[CEU][hapmap]
rs17034643	0.80[CEU][hapmap]
rs17034821	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs17396382	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs17400510	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]
rs17401924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17401966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17410217	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs17410793	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17411502	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs1889309	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs2004034	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2039778	0.80[CEU][hapmap]
rs2182326	0.80[CEU][hapmap]
rs2185252	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs2275424	0.95[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2276100	0.82[EUR][1000 genomes]
rs34215045	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34225619	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34565762	0.82[AMR][1000 genomes]
rs35111552	0.82[ASN][1000 genomes]
rs35187325	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35766535	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35830240	0.85[ASN][1000 genomes]
rs35837142	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35850116	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3737155	0.91[CEU][hapmap]
rs3748577	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs3748578	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3748579	0.82[EUR][1000 genomes]
rs3753037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4240911	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4259656	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4333852	0.80[CEU][hapmap]
rs4348727	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4475756	0.80[CEU][hapmap]
rs4529713	0.80[CEU][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4623	0.80[CEU][hapmap]
rs4845933	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4845934	0.81[EUR][1000 genomes]
rs4846197	0.80[CEU][hapmap]
rs4846205	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4846206	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4846207	0.80[CEU][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4846208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4846209	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs4846210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4846212	0.80[CEU][hapmap]
rs4846213	0.82[EUR][1000 genomes]
rs55676616	0.81[EUR][1000 genomes]
rs58053556	0.85[EUR][1000 genomes]
rs58549151	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58697740	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60743860	0.86[EUR][1000 genomes]
rs61778376	0.82[EUR][1000 genomes]
rs61778399	0.81[EUR][1000 genomes]
rs61778401	0.81[EUR][1000 genomes]
rs61784573	0.81[ASN][1000 genomes]
rs61784574	0.81[ASN][1000 genomes]
rs61784579	0.81[ASN][1000 genomes]
rs6541089	0.84[CEU][hapmap]
rs6674843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs6685895	0.82[AMR][1000 genomes]
rs6696056	0.80[CEU][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6700866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746881	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs7520259	0.81[ASN][1000 genomes]
rs7520651	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7520935	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7530167	0.86[EUR][1000 genomes]
rs7553228	0.81[CEU][hapmap]
rs8019	0.80[CEU][hapmap]
rs912961	0.86[EUR][1000 genomes]
rs912963	0.80[CEU][hapmap]
rs9332414	0.80[CEU][hapmap]
rs946501	0.80[CEU][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs946502	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs946503	0.80[CEU][hapmap];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	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
4	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
5	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12755094	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	chr1:10276800-10311800	Weak transcription	Hela-S3	cervix
3	chr1:10277000-10322000	Weak transcription	Spleen	Spleen
4	chr1:10284800-10311000	Weak transcription	Small Intestine	intestine
5	chr1:10285200-10316000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:10285400-10310800	Weak transcription	Aorta	Aorta
7	chr1:10285400-10312600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:10286800-10305800	Weak transcription	Ovary	ovary
9	chr1:10287400-10312400	Weak transcription	Pancreas	Pancrea
10	chr1:10289200-10317400	Weak transcription	Liver	Liver
11	chr1:10291000-10311800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:10291000-10311800	Weak transcription	HMEC	breast
13	chr1:10291200-10311200	Weak transcription	HUVEC	blood vessel
14	chr1:10291400-10308600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:10292400-10309400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:10293000-10322000	Weak transcription	Primary T cells from cord blood	blood
17	chr1:10293600-10311400	Weak transcription	NH-A	brain
18	chr1:10295000-10310600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:10295400-10311400	Weak transcription	Osteobl	bone
20	chr1:10295600-10312000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:10295600-10316400	Weak transcription	Placenta	Placenta
22	chr1:10295600-10317600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:10295800-10322000	Weak transcription	Lung	lung
24	chr1:10296200-10305800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:10296200-10312400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:10296200-10313600	Weak transcription	Fetal Brain Female	brain
27	chr1:10296400-10309800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:10296400-10310600	Weak transcription	Fetal Muscle Leg	muscle
29	chr1:10296400-10312400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:10296400-10313200	Weak transcription	Fetal Stomach	stomach
31	chr1:10296400-10316800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:10297200-10316200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:10297200-10316200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr1:10297400-10309400	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:10297400-10310400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:10297400-10312400	Weak transcription	NHLF	lung
37	chr1:10297400-10316200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:10297600-10311200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr1:10297600-10311800	Weak transcription	HSMM	muscle
40	chr1:10297600-10311800	Weak transcription	NHDF-Ad	bronchial
41	chr1:10297600-10312400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:10297800-10307200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:10297800-10312400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr1:10298000-10306600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:10298000-10311400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:10298000-10312400	Weak transcription	HepG2	liver
47	chr1:10298200-10306000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:10298200-10308000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr1:10298200-10308600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:10298400-10312400	Weak transcription	Right Atrium	heart

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