Variant report

Variant	rs12733312
Chromosome Location	chr1:10237960-10237961
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10492972	0.87[CEU][hapmap]
rs11121552	0.95[CEU][hapmap]
rs11576866	0.91[CEU][hapmap]
rs11582123	0.87[CEU][hapmap]
rs12122107	0.86[EUR][1000 genomes]
rs12130220	0.95[CEU][hapmap];0.80[JPT][hapmap]
rs12130563	0.87[CEU][hapmap]
rs12131441	0.87[CEU][hapmap]
rs12136376	0.95[CEU][hapmap];0.80[JPT][hapmap]
rs12141416	0.87[CEU][hapmap]
rs12402052	0.95[CEU][hapmap]
rs12403443	0.80[JPT][hapmap]
rs12407992	0.95[CEU][hapmap];0.80[JPT][hapmap]
rs12734551	0.95[CEU][hapmap];0.80[JPT][hapmap]
rs12737239	0.87[CEU][hapmap]
rs12751375	0.96[CEU][hapmap];0.85[JPT][hapmap]
rs12755094	0.96[CEU][hapmap]
rs1339458	0.95[CEU][hapmap];0.80[JPT][hapmap]
rs1396	0.96[EUR][1000 genomes]
rs1536263	0.96[CEU][hapmap]
rs1555849	0.87[CEU][hapmap]
rs17034821	0.87[CEU][hapmap]
rs17396382	0.91[CEU][hapmap]
rs17400510	0.95[CEU][hapmap];0.80[JPT][hapmap]
rs17401924	0.95[CEU][hapmap];0.80[JPT][hapmap]
rs17401966	0.95[CEU][hapmap];0.80[JPT][hapmap]
rs17410217	0.87[CEU][hapmap]
rs17411502	0.95[CEU][hapmap];0.80[JPT][hapmap]
rs2180184	0.85[JPT][hapmap]
rs2185252	0.87[CEU][hapmap]
rs2275424	0.91[CEU][hapmap]
rs3748577	0.87[CEU][hapmap]
rs3748578	0.95[CEU][hapmap];0.80[JPT][hapmap]
rs3753037	0.95[CEU][hapmap];0.80[JPT][hapmap]
rs4240911	0.87[CEU][hapmap]
rs4348727	0.95[CEU][hapmap];0.85[JPT][hapmap]
rs4846208	0.95[CEU][hapmap];0.80[JPT][hapmap]
rs4846210	0.95[CEU][hapmap];0.80[JPT][hapmap]
rs61784566	0.84[EUR][1000 genomes]
rs6541080	0.80[JPT][hapmap]
rs6700866	0.95[CEU][hapmap]
rs746881	0.87[CEU][hapmap]
rs7520935	0.95[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	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv527217	chr1:10093457-10257167	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv522629	chr1:10125765-10239197	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12733312	KIF1B	cis	Thyroid	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10191200-10239600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr1:10221800-10242200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:10226400-10238800	Weak transcription	NHEK	skin
4	chr1:10230400-10245800	Weak transcription	Stomach Mucosa	stomach
5	chr1:10230800-10241200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:10231200-10251600	Weak transcription	Right Atrium	heart
7	chr1:10231400-10242200	Strong transcription	Fetal Intestine Small	intestine
8	chr1:10231800-10239800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:10232000-10239400	Weak transcription	Pancreas	Pancrea
10	chr1:10232400-10239400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:10232600-10238800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:10232800-10238600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:10232800-10246800	Weak transcription	Fetal Kidney	kidney
14	chr1:10233000-10238600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:10233000-10238800	Weak transcription	HUVEC	blood vessel
16	chr1:10233000-10239600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:10233200-10238600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:10233200-10238600	Weak transcription	Small Intestine	intestine
19	chr1:10233200-10239000	Weak transcription	K562	blood
20	chr1:10233200-10239400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:10233200-10240200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:10233200-10240200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr1:10233200-10241800	Weak transcription	A549	lung
24	chr1:10233200-10242400	Weak transcription	Fetal Heart	heart
25	chr1:10233200-10258200	Weak transcription	Hela-S3	cervix
26	chr1:10233400-10238600	Weak transcription	Left Ventricle	heart
27	chr1:10233400-10238800	Weak transcription	Brain Hippocampus Middle	brain
28	chr1:10233400-10238800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:10233400-10239400	Weak transcription	Colonic Mucosa	Colon
30	chr1:10233800-10239200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:10233800-10239600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:10234000-10238000	Weak transcription	Fetal Brain Male	brain
33	chr1:10234000-10238200	Weak transcription	HepG2	liver
34	chr1:10234000-10238800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:10234000-10238800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr1:10234000-10238800	Weak transcription	Osteobl	bone
37	chr1:10234000-10239000	Weak transcription	Esophagus	oesophagus
38	chr1:10234000-10239200	Weak transcription	GM12878-XiMat	blood
39	chr1:10234000-10239200	Weak transcription	HSMMtube	muscle
40	chr1:10234000-10239400	Weak transcription	HMEC	breast
41	chr1:10234200-10238600	Weak transcription	Dnd41	blood
42	chr1:10234200-10238800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr1:10234200-10239200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:10234200-10239400	Weak transcription	Gastric	stomach
45	chr1:10234200-10249800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:10234400-10238800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr1:10235200-10239800	Weak transcription	NH-A	brain
48	chr1:10235400-10238000	Weak transcription	Brain Substantia Nigra	brain
49	chr1:10235400-10238000	Weak transcription	Fetal Intestine Large	intestine
50	chr1:10235400-10238200	Weak transcription	Brain Cingulate Gyrus	brain

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