Variant report

Variant	rs997482
Chromosome Location	chr1:10273179-10273180
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10272332..10273838-chr1:10278117..10280308,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11121529	0.85[EUR][1000 genomes]
rs11121548	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[GIH][hapmap];0.85[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap]
rs11121556	1.00[CHB][hapmap]
rs11812055	0.93[AFR][1000 genomes]
rs12034805	1.00[CHD][hapmap]
rs12119075	1.00[CHB][hapmap]
rs12120499	0.83[EUR][1000 genomes]
rs12125492	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap]
rs12135774	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];0.85[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap]
rs12137527	0.88[EUR][1000 genomes]
rs12139158	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs12141192	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[MKK][hapmap];0.96[TSI][hapmap]
rs17034762	0.91[YRI][hapmap]
rs17396340	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs17397129	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17400878	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs17401588	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs4846204	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs4846215	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs4846217	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap]
rs6670157	1.00[CEU][hapmap]
rs6679596	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];0.85[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap]
rs6693965	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6694081	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6702280	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6703602	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7546642	0.86[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs997482	KIF1B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10269400-10273200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:10269600-10273200	Active TSS	HSMMtube	muscle
3	chr1:10270200-10273800	Active TSS	Fetal Muscle Trunk	muscle
4	chr1:10272000-10274200	Enhancers	Small Intestine	intestine
5	chr1:10272000-10275600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:10272000-10275600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr1:10272200-10273400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:10272200-10273800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:10272200-10273800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:10272200-10274000	Weak transcription	Pancreas	Pancrea
11	chr1:10272200-10274200	Enhancers	Liver	Liver
12	chr1:10272200-10274200	Enhancers	Left Ventricle	heart
13	chr1:10272200-10274200	Enhancers	Ovary	ovary
14	chr1:10272200-10275600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr1:10272200-10275600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:10272200-10275800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:10272200-10276000	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr1:10272200-10276000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr1:10272200-10276400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr1:10272200-10276400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:10272200-10276600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:10272200-10276600	Weak transcription	Spleen	Spleen
23	chr1:10272200-10277600	Weak transcription	Esophagus	oesophagus
24	chr1:10272200-10278000	Weak transcription	Colonic Mucosa	Colon
25	chr1:10272200-10278200	Weak transcription	Placenta	Placenta
26	chr1:10272400-10274000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:10272400-10274000	Enhancers	Rectal Smooth Muscle	rectum
28	chr1:10272400-10274200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:10272400-10274200	Enhancers	Adipose Nuclei	Adipose
30	chr1:10272400-10274400	Enhancers	Colon Smooth Muscle	Colon
31	chr1:10272400-10274400	Enhancers	Fetal Stomach	stomach
32	chr1:10272400-10275600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr1:10272400-10276200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr1:10272400-10276400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:10272600-10273200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr1:10272600-10273200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr1:10272600-10273200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr1:10272600-10273400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr1:10272600-10273400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr1:10272600-10273400	Enhancers	Brain Hippocampus Middle	brain
41	chr1:10272600-10273400	Weak transcription	Psoas Muscle	Psoas
42	chr1:10272600-10273400	Enhancers	HepG2	liver
43	chr1:10272600-10273600	Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr1:10272600-10273600	Enhancers	NHEK	skin
45	chr1:10272600-10273800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:10272600-10273800	Enhancers	HMEC	breast
47	chr1:10272600-10274000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr1:10272600-10274200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:10272600-10274200	Enhancers	Stomach Smooth Muscle	stomach
50	chr1:10272600-10274200	Enhancers	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links