Variant report

Variant	rs12133125
Chromosome Location	chr1:10272562-10272563
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10271685..10272582-chr12:62033319..62034137,2	MCF-7	breast:
2	chr1:10272332..10273838-chr1:10278117..10280308,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11121528	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11121531	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11121532	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11121533	0.87[ASN][1000 genomes]
rs12116966	0.81[EUR][1000 genomes]
rs12117765	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12127553	0.85[ASN][1000 genomes]
rs12129035	0.86[ASN][1000 genomes]
rs12130220	0.82[ASN][1000 genomes]
rs12136376	0.85[ASN][1000 genomes]
rs12137456	0.85[ASN][1000 genomes]
rs12145227	0.84[ASN][1000 genomes]
rs12402052	0.85[ASN][1000 genomes]
rs12406776	0.85[ASN][1000 genomes]
rs12407992	0.85[ASN][1000 genomes]
rs12408019	0.85[ASN][1000 genomes]
rs12755094	0.85[ASN][1000 genomes]
rs12757820	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1339458	0.84[ASN][1000 genomes]
rs17400510	0.87[ASN][1000 genomes]
rs2275424	0.82[ASN][1000 genomes]
rs34215045	0.81[ASN][1000 genomes]
rs34420285	0.87[ASN][1000 genomes]
rs35111552	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35187325	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35766535	0.87[ASN][1000 genomes]
rs35830240	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35837142	0.82[ASN][1000 genomes]
rs3753037	0.82[ASN][1000 genomes]
rs4259656	0.81[ASN][1000 genomes]
rs4348727	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4845933	0.84[ASN][1000 genomes]
rs4846208	0.85[ASN][1000 genomes]
rs4846210	0.82[ASN][1000 genomes]
rs58549151	0.85[ASN][1000 genomes]
rs61784566	0.84[ASN][1000 genomes]
rs61784572	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61784573	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61784574	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61784579	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61784580	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6699879	0.88[ASN][1000 genomes]
rs6700866	0.85[ASN][1000 genomes]
rs7520259	0.92[ASN][1000 genomes]
rs7520651	0.84[ASN][1000 genomes]
rs7520935	0.84[ASN][1000 genomes]

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	esv3406947	chr1:10269890-10272738	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12133125	KIF1B	cis	Thyroid	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10269400-10272600	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr1:10269400-10272800	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr1:10269400-10273200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:10269600-10272800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr1:10269600-10273200	Active TSS	HSMMtube	muscle
6	chr1:10269800-10272600	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr1:10269800-10272600	Active TSS	Aorta	Aorta
8	chr1:10269800-10272600	Active TSS	Psoas Muscle	Psoas
9	chr1:10270000-10272600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:10270200-10273800	Active TSS	Fetal Muscle Trunk	muscle
11	chr1:10271000-10272600	Flanking Active TSS	Dnd41	blood
12	chr1:10271000-10272800	Active TSS	Right Atrium	heart
13	chr1:10271200-10272600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr1:10271200-10272600	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr1:10271200-10272600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr1:10271200-10272600	Flanking Active TSS	K562	blood
17	chr1:10271200-10272600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr1:10271600-10272600	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr1:10271600-10272600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:10271600-10272600	Flanking Active TSS	Hela-S3	cervix
21	chr1:10271600-10272800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:10271800-10272600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr1:10271800-10272600	Flanking Active TSS	Fetal Kidney	kidney
24	chr1:10271800-10272600	Flanking Active TSS	Fetal Lung	lung
25	chr1:10271800-10272600	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr1:10271800-10272600	Flanking Active TSS	HMEC	breast
27	chr1:10271800-10272600	Flanking Active TSS	HUVEC	blood vessel
28	chr1:10271800-10272600	Flanking Active TSS	NHEK	skin
29	chr1:10271800-10272600	Flanking Active TSS	Osteobl	bone
30	chr1:10271800-10272800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:10271800-10272800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:10271800-10272800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:10271800-10272800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr1:10271800-10272800	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr1:10271800-10272800	Enhancers	Placenta Amnion	Placenta Amnion
36	chr1:10271800-10272800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr1:10271800-10273000	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr1:10272000-10272600	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr1:10272000-10272600	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr1:10272000-10272600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr1:10272000-10272600	Flanking Active TSS	Fetal Heart	heart
42	chr1:10272000-10272800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:10272000-10272800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr1:10272000-10272800	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr1:10272000-10272800	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr1:10272000-10274200	Enhancers	Small Intestine	intestine
47	chr1:10272000-10275600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr1:10272000-10275600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr1:10272200-10272600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:10272200-10272600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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