Variant report

Variant	rs1471980
Chromosome Location	chr11:17179440-17179441
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	chr11:17168623..17170231-chr11:17178492..17180803,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs11024180	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11600230	1.00[ASN][1000 genomes]
rs11603765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604470	1.00[CHB][hapmap]
rs11604561	1.00[CHB][hapmap]
rs11605718	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11607974	1.00[CHB][hapmap]
rs11826970	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12419179	1.00[ASN][1000 genomes]
rs16924899	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16933823	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];1.00[ASN][1000 genomes]
rs16933827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933873	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17647408	1.00[CHB][hapmap]
rs1967077	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1974527	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979602	1.00[CHB][hapmap]
rs2040859	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];0.89[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28845191	1.00[ASN][1000 genomes]
rs35493302	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57726107	1.00[ASN][1000 genomes]
rs59545597	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60698184	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61762002	0.85[AFR][1000 genomes]
rs61879689	0.84[ASN][1000 genomes]
rs61879695	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61879701	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv7691	chr11:17151593-17196894	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv469762	chr11:17170690-17320691	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv482905	chr11:17170690-17320691	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1471980	NUCB2	cis	cerebellum	SCAN
rs1471980	NUCB2	cis	lymphoblastoid	seeQTL
rs1471980	MYOD1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17111600-17182000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr11:17120400-17181600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:17125800-17181400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr11:17126800-17186400	Weak transcription	Colonic Mucosa	Colon
5	chr11:17130200-17203800	Weak transcription	Aorta	Aorta
6	chr11:17140000-17183400	Weak transcription	Small Intestine	intestine
7	chr11:17144200-17192800	Weak transcription	NHDF-Ad	bronchial
8	chr11:17150800-17186000	Weak transcription	NHLF	lung
9	chr11:17156400-17186400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:17156400-17186600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:17156600-17180800	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:17156600-17182400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr11:17156600-17183600	Weak transcription	Lung	lung
14	chr11:17156600-17219200	Weak transcription	HSMMtube	muscle
15	chr11:17156800-17181000	Weak transcription	Brain Germinal Matrix	brain
16	chr11:17158000-17215600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:17164400-17181200	Weak transcription	Gastric	stomach
18	chr11:17164400-17186200	Weak transcription	A549	lung
19	chr11:17165200-17180600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr11:17165200-17215200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr11:17166200-17190200	Weak transcription	NH-A	brain
22	chr11:17166400-17183600	Weak transcription	Fetal Intestine Small	intestine
23	chr11:17167000-17183800	Weak transcription	Fetal Muscle Leg	muscle
24	chr11:17167000-17184000	Weak transcription	Pancreas	Pancrea
25	chr11:17167000-17186000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:17167000-17188600	Weak transcription	Fetal Stomach	stomach
27	chr11:17167000-17188800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:17167400-17181800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr11:17167400-17183000	Weak transcription	Dnd41	blood
30	chr11:17167400-17183400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr11:17167400-17185000	Weak transcription	Ovary	ovary
32	chr11:17167400-17186800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:17167400-17190200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr11:17167400-17190400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr11:17167400-17204400	Weak transcription	Thymus	Thymus
36	chr11:17167400-17212600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr11:17167400-17228000	Weak transcription	Fetal Thymus	thymus
38	chr11:17167600-17181400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:17167600-17182200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr11:17167600-17186400	Weak transcription	HMEC	breast
41	chr11:17168000-17180600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr11:17168000-17190200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr11:17168200-17183600	Weak transcription	Left Ventricle	heart
44	chr11:17168200-17185000	Weak transcription	Right Ventricle	heart
45	chr11:17168200-17193800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr11:17169400-17185600	Weak transcription	Hela-S3	cervix
47	chr11:17169400-17190600	Weak transcription	HSMM	muscle
48	chr11:17169800-17183200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:17170800-17186400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr11:17171400-17186200	Weak transcription	Osteobl	bone

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