Variant report

Variant	rs2851459
Chromosome Location	chr11:75049054-75049055
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr11:75048223-75049176	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75047656..75050821-chr11:75109676..75113493,3	MCF-7	breast:
2	chr11:75049020..75051039-chr11:75111036..75113038,2	MCF-7	breast:
3	chr11:74953050..74955146-chr11:75048496..75050415,2	K562	blood:
4	chr11:75043115..75045254-chr11:75048636..75051434,3	MCF-7	breast:
5	chr11:74986561..74988173-chr11:75048829..75051587,2	MCF-7	breast:
6	chr11:75039981..75042860-chr11:75046286..75050333,5	MCF-7	breast:
7	chr11:75039219..75041629-chr11:75048594..75050587,2	K562	blood:
8	chr11:75047858..75058236-chr11:75058819..75065197,25	MCF-7	breast:

No data

Variant related genes	Relation type
MIR326	TF binding region
ENSG00000137486	Chromatin interaction
ENSG00000149273	Chromatin interaction
ENSG00000206941	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs475161	0.81[CEU][hapmap]
rs477625	0.82[CEU][hapmap]
rs477783	0.89[MEX][hapmap]
rs478777	0.82[CEU][hapmap]
rs504683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs539342	0.92[ASN][1000 genomes]
rs549085	0.90[ASN][1000 genomes]
rs561923	0.82[CEU][hapmap];0.90[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs562946	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs566567	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]
rs569796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs629991	0.82[CEU][hapmap];0.89[MEX][hapmap]
rs663235	0.80[CEU][hapmap]
rs665702	0.81[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs672534	0.81[CEU][hapmap];0.86[GIH][hapmap];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
rs2851459	KCNE3	cis	parietal	SCAN

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75035200-75051200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:75039400-75051000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr11:75039400-75060800	Enhancers	Placenta	Placenta
4	chr11:75040000-75050400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:75041800-75049600	Weak transcription	Dnd41	blood
6	chr11:75042000-75050000	Weak transcription	Brain Germinal Matrix	brain
7	chr11:75042000-75052000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:75043200-75051600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr11:75043400-75052400	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr11:75043800-75054000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:75044000-75050200	Enhancers	Colon Smooth Muscle	Colon
12	chr11:75044000-75050800	Enhancers	Adipose Nuclei	Adipose
13	chr11:75044200-75050600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr11:75044200-75055400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:75044200-75055600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:75044200-75055800	Enhancers	Brain Hippocampus Middle	brain
17	chr11:75044200-75056600	Enhancers	Esophagus	oesophagus
18	chr11:75044200-75056800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:75044200-75060400	Genic enhancers	Fetal Stomach	stomach
20	chr11:75044400-75055200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr11:75044400-75056400	Enhancers	Placenta Amnion	Placenta Amnion
22	chr11:75044400-75057200	Enhancers	Fetal Muscle Trunk	muscle
23	chr11:75044600-75051400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:75044600-75051800	Enhancers	Brain Cingulate Gyrus	brain
25	chr11:75044800-75050600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr11:75044800-75050800	Enhancers	Primary hematopoietic stem cells	blood
27	chr11:75044800-75051000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr11:75045000-75051000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr11:75045600-75051400	Enhancers	A549	lung
30	chr11:75045800-75051400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr11:75046200-75051000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr11:75046400-75049200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:75046400-75049200	Weak transcription	Fetal Brain Male	brain
34	chr11:75046400-75051000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr11:75046400-75051000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:75046400-75051000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:75046400-75061200	Enhancers	Fetal Thymus	thymus
38	chr11:75046800-75050400	Enhancers	Primary T cells from cord blood	blood
39	chr11:75046800-75050400	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr11:75046800-75051600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
41	chr11:75046800-75060200	Enhancers	Brain Anterior Caudate	brain
42	chr11:75046800-75061600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr11:75047000-75051400	Enhancers	Primary T cells fromperipheralblood	blood
44	chr11:75047000-75054400	Enhancers	Brain Substantia Nigra	brain
45	chr11:75047000-75059600	Enhancers	Pancreas	Pancrea
46	chr11:75047000-75061200	Enhancers	Left Ventricle	heart
47	chr11:75047000-75061200	Enhancers	Stomach Mucosa	stomach
48	chr11:75047200-75050400	Enhancers	Duodenum Mucosa	Duodenum
49	chr11:75047200-75050600	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr11:75047200-75050600	Enhancers	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links