Variant report

Variant	rs3762287
Chromosome Location	chr1:10478586-10478587
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:10476145-10484723	A549	lung:	n/a	n/a
2	POLR2A	chr1:10478586-10478737	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10474196..10477325-chr1:10477463..10484153,8	K562	blood:

Variant related genes	Relation type
PGD	TF binding region
ENSG00000142657	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1002076	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11121551	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11121555	0.84[ASN][1000 genomes]
rs11121557	0.88[ASN][1000 genomes]
rs11121560	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11121561	0.92[ASN][1000 genomes]
rs11121563	0.93[ASN][1000 genomes]
rs11121566	0.95[ASN][1000 genomes]
rs1138791	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11576384	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11579365	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11585794	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11586842	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11587309	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11587495	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11587854	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12118323	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12141201	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12409754	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12746471	0.95[ASN][1000 genomes]
rs1536262	0.88[ASN][1000 genomes]
rs2229687	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2236678	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34045426	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs34075302	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35716098	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs35759975	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs35811280	0.86[ASN][1000 genomes]
rs3737155	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3748581	0.88[ASN][1000 genomes]
rs3762286	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3762288	0.93[ASN][1000 genomes]
rs4846216	0.88[ASN][1000 genomes]
rs4846218	0.82[ASN][1000 genomes]
rs4846219	0.93[ASN][1000 genomes]
rs4846221	0.95[ASN][1000 genomes]
rs58014725	0.95[ASN][1000 genomes]
rs61778404	0.86[ASN][1000 genomes]
rs6541094	0.94[ASN][1000 genomes]
rs6674949	0.88[ASN][1000 genomes]
rs6682868	0.88[ASN][1000 genomes]
rs9651117	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv2764192	chr1:10383734-10594186	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv998731	chr1:10464176-10607351	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	esv1827009	chr1:10467074-10483456	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	esv1830329	chr1:10467074-10483456	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	esv1831760	chr1:10467074-10483456	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	esv1836264	chr1:10473200-10483456	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	esv1010529	chr1:10476195-10478586	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3762287	KIF1B	cis	Thyroid	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10460000-10490200	Weak transcription	Psoas Muscle	Psoas
2	chr1:10460600-10481200	Strong transcription	H1 Cell Line	embryonic stem cell
3	chr1:10460800-10480400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:10460800-10482000	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:10460800-10482400	Strong transcription	Fetal Stomach	stomach
6	chr1:10460800-10483400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:10461000-10482000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:10461200-10482000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:10461200-10482000	Strong transcription	Fetal Muscle Leg	muscle
10	chr1:10461200-10490000	Weak transcription	Right Atrium	heart
11	chr1:10461400-10483000	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:10461400-10483000	Strong transcription	Fetal Intestine Small	intestine
13	chr1:10461400-10483400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr1:10461600-10481800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:10461600-10482800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:10461800-10482000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:10461800-10482000	Strong transcription	Dnd41	blood
18	chr1:10462000-10482000	Strong transcription	Fetal Intestine Large	intestine
19	chr1:10462000-10482200	Strong transcription	Brain Germinal Matrix	brain
20	chr1:10462000-10483000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:10462200-10481600	Strong transcription	Liver	Liver
22	chr1:10462200-10481600	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:10462200-10482000	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:10462200-10483200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:10462600-10482000	Strong transcription	Duodenum Mucosa	Duodenum
26	chr1:10462800-10480400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr1:10462800-10481600	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr1:10462800-10481600	Strong transcription	GM12878-XiMat	blood
29	chr1:10462800-10482200	Strong transcription	Thymus	Thymus
30	chr1:10462800-10482600	Strong transcription	Brain Anterior Caudate	brain
31	chr1:10462800-10483400	Strong transcription	Fetal Brain Female	brain
32	chr1:10463000-10480800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:10463000-10480800	Strong transcription	Left Ventricle	heart
34	chr1:10463000-10480800	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr1:10463000-10481000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:10463000-10481000	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr1:10463000-10482000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:10463000-10482200	Strong transcription	Fetal Thymus	thymus
39	chr1:10463200-10482000	Strong transcription	Brain Cingulate Gyrus	brain
40	chr1:10464200-10482000	Strong transcription	Spleen	Spleen
41	chr1:10464400-10481800	Strong transcription	HSMMtube	muscle
42	chr1:10464400-10482200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:10464400-10482400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:10464400-10482800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:10466000-10481800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:10466200-10480800	Strong transcription	HepG2	liver
47	chr1:10466400-10481800	Strong transcription	Primary T cells from cord blood	blood
48	chr1:10468800-10489800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr1:10470200-10479800	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr1:10470400-10482000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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