Variant report

Variant	rs11121533
Chromosome Location	chr1:10292888-10292889
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	chr1:10282059..10284111-chr1:10292781..10294603,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10492972	0.84[EUR][1000 genomes]
rs1049887	0.83[EUR][1000 genomes]
rs10864448	0.82[EUR][1000 genomes]
rs10864449	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11121528	0.82[ASN][1000 genomes]
rs11121531	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11121532	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11121544	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11121552	0.83[EUR][1000 genomes]
rs11576654	0.83[EUR][1000 genomes]
rs11576866	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11578694	0.82[EUR][1000 genomes]
rs11578788	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11580789	0.81[EUR][1000 genomes]
rs11580854	0.81[EUR][1000 genomes]
rs11582123	0.89[EUR][1000 genomes]
rs11584023	0.88[EUR][1000 genomes]
rs11585760	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12117765	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12119477	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12127553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12129035	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12130220	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12132635	0.89[EUR][1000 genomes]
rs12133125	0.87[ASN][1000 genomes]
rs12136376	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12137456	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12137880	0.81[EUR][1000 genomes]
rs12141416	0.84[EUR][1000 genomes]
rs12402052	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12403443	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12406776	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12407992	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12408019	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12734068	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12734551	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12755094	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12757820	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1339458	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1536263	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1538557	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17396382	0.87[EUR][1000 genomes]
rs17400510	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17401924	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17401966	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17410793	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17411502	0.84[EUR][1000 genomes]
rs2004034	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2275424	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34215045	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34225619	0.82[AFR][1000 genomes];0.87[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	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35766535	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35830240	0.87[ASN][1000 genomes]
rs35837142	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35850116	0.89[EUR][1000 genomes]
rs3748577	0.84[EUR][1000 genomes]
rs3748578	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3753037	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4240911	0.86[EUR][1000 genomes]
rs4259656	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4348727	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4845933	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4846205	0.86[EUR][1000 genomes]
rs4846208	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4846210	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55676616	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58053556	0.83[EUR][1000 genomes]
rs58549151	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58697740	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60743860	0.83[EUR][1000 genomes]
rs61775885	0.82[AMR][1000 genomes]
rs61775887	0.82[AMR][1000 genomes]
rs61784573	0.82[ASN][1000 genomes]
rs61784574	0.82[ASN][1000 genomes]
rs61784579	0.82[ASN][1000 genomes]
rs6674843	0.83[EUR][1000 genomes]
rs6685895	0.82[EUR][1000 genomes]
rs6700866	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs746881	0.84[EUR][1000 genomes]
rs7520259	0.82[ASN][1000 genomes]
rs7520651	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7520935	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7530167	0.83[EUR][1000 genomes]
rs912961	0.84[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
rs11121533	KIF1B	cis	Thyroid	GTEx

Chromatin state (count:93 , 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	chr1:10278800-10296400	Weak transcription	Fetal Lung	lung
9	chr1:10279800-10297800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:10281000-10294800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:10284800-10311000	Weak transcription	Small Intestine	intestine
12	chr1:10285000-10294000	Weak transcription	Fetal Stomach	stomach
13	chr1:10285200-10316000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:10285400-10294000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:10285400-10302400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:10285400-10310800	Weak transcription	Aorta	Aorta
17	chr1:10285400-10312600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:10285600-10293200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:10285600-10294600	Weak transcription	Lung	lung
20	chr1:10285600-10295200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:10285800-10293000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr1:10285800-10297000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:10286000-10293600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:10286000-10298000	Weak transcription	Right Atrium	heart
25	chr1:10286000-10301800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:10286000-10303000	Weak transcription	Brain Germinal Matrix	brain
27	chr1:10286400-10294600	Weak transcription	Right Ventricle	heart
28	chr1:10286400-10297000	Weak transcription	HSMMtube	muscle
29	chr1:10286600-10294200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:10286800-10301600	Weak transcription	Fetal Kidney	kidney
31	chr1:10286800-10305800	Weak transcription	Ovary	ovary
32	chr1:10287400-10293200	Weak transcription	Left Ventricle	heart
33	chr1:10287400-10312400	Weak transcription	Pancreas	Pancrea
34	chr1:10288600-10296400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:10288800-10293200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:10288800-10293800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr1:10289000-10295400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr1:10289000-10297200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr1:10289000-10300600	Weak transcription	Fetal Heart	heart
40	chr1:10289200-10301600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr1:10289200-10301800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:10289200-10317400	Weak transcription	Liver	Liver
43	chr1:10289600-10293400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr1:10289600-10294400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:10289600-10297000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr1:10290400-10296800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr1:10290600-10299000	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr1:10290800-10293000	Enhancers	Colon Smooth Muscle	Colon
49	chr1:10290800-10297600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:10291000-10311800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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