Variant report

Variant	rs11121532
Chromosome Location	chr1:10277898-10277899
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10276579..10278410-chr1:10297316..10299169,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10864448	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11121528	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11121531	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11121533	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11121544	0.82[EUR][1000 genomes]
rs11121552	0.80[EUR][1000 genomes]
rs11576654	0.80[EUR][1000 genomes]
rs11576866	0.85[EUR][1000 genomes]
rs11578788	0.85[EUR][1000 genomes]
rs11582123	0.83[EUR][1000 genomes]
rs11584023	0.82[EUR][1000 genomes]
rs11585760	0.85[EUR][1000 genomes]
rs12117765	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12119477	0.85[EUR][1000 genomes]
rs12127553	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12129035	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12130220	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12132635	0.83[EUR][1000 genomes]
rs12133125	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12136376	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12137456	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12402052	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12406776	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12407992	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12408019	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12734068	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12734551	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12755094	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12757820	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1339458	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1536263	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17396382	0.81[EUR][1000 genomes]
rs17400510	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17401924	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17401966	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17410793	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2004034	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2275424	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34215045	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34225619	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34420285	0.80[ASN][1000 genomes]
rs35111552	0.85[ASN][1000 genomes]
rs35187325	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35766535	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35830240	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35837142	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35850116	0.83[EUR][1000 genomes]
rs3748578	0.85[EUR][1000 genomes]
rs3753037	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4240911	0.81[EUR][1000 genomes]
rs4259656	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4348727	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4845933	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4846205	0.81[EUR][1000 genomes]
rs4846208	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4846210	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58549151	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58697740	0.82[EUR][1000 genomes]
rs60743860	0.80[EUR][1000 genomes]
rs61784572	0.84[EUR][1000 genomes]
rs61784573	0.85[ASN][1000 genomes]
rs61784574	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61784579	0.85[ASN][1000 genomes]
rs6699879	0.81[ASN][1000 genomes]
rs6700866	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7520259	0.85[ASN][1000 genomes]
rs7520651	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7520935	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7530167	0.80[EUR][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	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
rs11121532	KIF1B	cis	Thyroid	GTEx

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10272200-10278000	Weak transcription	Colonic Mucosa	Colon
2	chr1:10272200-10278200	Weak transcription	Placenta	Placenta
3	chr1:10272600-10284000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:10272600-10284000	Weak transcription	Fetal Intestine Small	intestine
5	chr1:10272600-10368200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:10272800-10284000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:10272800-10284400	Weak transcription	Gastric	stomach
8	chr1:10272800-10290000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:10272800-10296600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:10273600-10278200	Weak transcription	Fetal Intestine Large	intestine
11	chr1:10274000-10282400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:10274000-10285200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:10274200-10278200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:10274200-10284600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:10274400-10278000	Weak transcription	Fetal Stomach	stomach
16	chr1:10274600-10281200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:10275400-10278600	Enhancers	Psoas Muscle	Psoas
18	chr1:10275600-10278400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:10275600-10278400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:10275600-10278600	Enhancers	Fetal Heart	heart
21	chr1:10275600-10278800	Enhancers	Left Ventricle	heart
22	chr1:10275600-10279000	Enhancers	Liver	Liver
23	chr1:10275800-10278000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:10275800-10278000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:10275800-10278000	Enhancers	Colon Smooth Muscle	Colon
26	chr1:10275800-10278400	Enhancers	HUVEC	blood vessel
27	chr1:10275800-10278800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:10275800-10278800	Enhancers	Rectal Smooth Muscle	rectum
29	chr1:10276000-10278600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr1:10276000-10278600	Enhancers	Fetal Brain Male	brain
31	chr1:10276200-10278400	Enhancers	Right Ventricle	heart
32	chr1:10276200-10278400	Enhancers	NH-A	brain
33	chr1:10276200-10278800	Enhancers	Right Atrium	heart
34	chr1:10276200-10278800	Enhancers	NHDF-Ad	bronchial
35	chr1:10276200-10279000	Enhancers	Osteobl	bone
36	chr1:10276400-10278800	Enhancers	Brain Angular Gyrus	brain
37	chr1:10276400-10278800	Enhancers	Fetal Muscle Leg	muscle
38	chr1:10276600-10278000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:10276600-10278400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:10276600-10278400	Enhancers	Lung	lung
41	chr1:10276600-10278800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:10276600-10281800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr1:10276800-10278000	Enhancers	Adipose Nuclei	Adipose
44	chr1:10276800-10279000	Enhancers	Brain Anterior Caudate	brain
45	chr1:10276800-10279200	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr1:10276800-10279800	Enhancers	Brain Cingulate Gyrus	brain
47	chr1:10276800-10280000	Enhancers	Brain Substantia Nigra	brain
48	chr1:10276800-10311800	Weak transcription	Hela-S3	cervix
49	chr1:10277000-10278000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:10277000-10278000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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