Variant report

Variant	rs566567
Chromosome Location	chr11:75059388-75059389
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	chr11:75056062..75061130-chr11:75109293..75114170,7	MCF-7	breast:
2	chr11:75041535..75043406-chr11:75058885..75060928,2	K562	blood:

Variant related genes	Relation type
ENSG00000149273	Chromatin interaction
ENSG00000206941	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11236417	0.94[CEU][hapmap]
rs2851459	0.82[CEU][hapmap];0.90[CHB][hapmap];0.81[CHD][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs477625	1.00[CEU][hapmap]
rs477783	0.95[CEU][hapmap];0.97[GIH][hapmap];0.89[MEX][hapmap];0.83[TSI][hapmap]
rs478777	1.00[CEU][hapmap]
rs489691	0.84[JPT][hapmap]
rs504683	0.82[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs539342	0.93[ASN][1000 genomes]
rs543013	0.81[EUR][1000 genomes]
rs549085	0.94[ASN][1000 genomes]
rs561923	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs562946	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs569796	0.82[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs627133	0.95[CEU][hapmap]
rs629991	1.00[CEU][hapmap];0.97[GIH][hapmap];0.89[MEX][hapmap];0.83[TSI][hapmap]
rs663235	0.84[JPT][hapmap]
rs665702	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs672534	0.89[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036292	chr11:74937977-75059496	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
2	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
3	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
4	nsv522447	chr11:74982939-75068767	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	57 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs566567	KCNE3	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75039400-75060800	Enhancers	Placenta	Placenta
2	chr11:75044200-75060400	Genic enhancers	Fetal Stomach	stomach
3	chr11:75046400-75061200	Enhancers	Fetal Thymus	thymus
4	chr11:75046800-75060200	Enhancers	Brain Anterior Caudate	brain
5	chr11:75046800-75061600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr11:75047000-75059600	Enhancers	Pancreas	Pancrea
7	chr11:75047000-75061200	Enhancers	Left Ventricle	heart
8	chr11:75047000-75061200	Enhancers	Stomach Mucosa	stomach
9	chr11:75047200-75060400	Enhancers	Brain Angular Gyrus	brain
10	chr11:75047600-75060600	Enhancers	Right Atrium	heart
11	chr11:75047800-75060600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:75047800-75060800	Genic enhancers	Fetal Intestine Small	intestine
13	chr11:75048000-75061600	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr11:75048400-75061000	Enhancers	Liver	Liver
15	chr11:75051600-75060400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr11:75051800-75060600	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr11:75052200-75060200	Enhancers	Brain Cingulate Gyrus	brain
18	chr11:75052200-75061200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr11:75052200-75061400	Enhancers	Primary T cells fromperipheralblood	blood
20	chr11:75052400-75061200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr11:75052400-75061200	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr11:75052400-75061800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:75053000-75060200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr11:75053400-75061600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:75054400-75059400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr11:75054600-75059600	Enhancers	A549	lung
27	chr11:75054600-75062000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:75055000-75060400	Enhancers	Dnd41	blood
29	chr11:75055400-75060400	Genic enhancers	Fetal Intestine Large	intestine
30	chr11:75055400-75061400	Enhancers	Right Ventricle	heart
31	chr11:75055600-75061800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:75055800-75060200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr11:75056000-75060200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr11:75056000-75060200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
35	chr11:75056000-75060200	Enhancers	Brain Hippocampus Middle	brain
36	chr11:75056000-75060400	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr11:75056000-75061600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:75056200-75060200	Enhancers	Brain Substantia Nigra	brain
39	chr11:75056200-75062000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr11:75056400-75059800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:75056400-75060400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:75056600-75060800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr11:75056600-75061800	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr11:75056800-75059800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:75056800-75060800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
46	chr11:75057000-75059800	Enhancers	Esophagus	oesophagus
47	chr11:75057000-75060600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:75057200-75059400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:75057200-75059400	Enhancers	Spleen	Spleen
50	chr11:75057200-75060200	Enhancers	Fetal Brain Female	brain

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