Variant report

Variant	rs2239610
Chromosome Location	chr14:81422257-81422258
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81421283..81423197-chr14:81423259..81426025,2	K562	blood:
2	chr14:81420793..81423189-chr14:81424553..81427836,4	MCF-7	breast:
3	chr14:81421307..81423560-chr14:81685821..81687772,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100629	Chromatin interaction
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10135774	0.93[ASN][1000 genomes]
rs10146348	0.94[ASN][1000 genomes]
rs10146516	0.92[ASN][1000 genomes]
rs10149689	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs11845052	0.91[EUR][1000 genomes]
rs11850464	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12050077	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs12050078	1.00[CEU][hapmap];0.89[CHB][hapmap];0.83[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12050278	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs12050350	1.00[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17544072	0.94[ASN][1000 genomes]
rs17544968	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17545038	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17615911	0.94[ASN][1000 genomes]
rs17615941	0.94[ASN][1000 genomes]
rs17626988	0.94[ASN][1000 genomes]
rs179243	0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs179245	0.81[ASN][1000 genomes]
rs2024427	0.95[CEU][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2110696	0.84[CHB][hapmap]
rs2114705	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs2195103	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs2217177	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs2217178	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs2268451	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs2268452	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2268457	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2268458	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2284718	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2284719	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2284720	0.95[CEU][hapmap];0.83[CHB][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2284727	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3783945	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4903955	0.94[ASN][1000 genomes]
rs5002906	0.83[CHB][hapmap]
rs55751898	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55945219	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59431750	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59711583	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7145224	0.84[ASN][1000 genomes]
rs7154269	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs724169	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs726018	0.82[ASN][1000 genomes]
rs726020	0.89[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs72693057	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72693075	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72693078	0.87[EUR][1000 genomes]
rs72693080	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72693090	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72693093	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72693096	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs74064796	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8012343	0.94[ASN][1000 genomes]
rs8022600	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
4	nsv456346	chr14:81399692-81448382	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
5	nsv565291	chr14:81399692-81448382	Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81421000-81423400	Active TSS	Fetal Thymus	thymus
2	chr14:81421000-81426400	Active TSS	Thymus	Thymus
3	chr14:81421200-81422400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr14:81421200-81422400	Active TSS	Primary T helper naive cells from peripheral blood	blood
5	chr14:81421200-81422400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
6	chr14:81421200-81422400	Active TSS	Rectal Smooth Muscle	rectum
7	chr14:81421400-81422400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr14:81421400-81422400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr14:81421400-81422400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr14:81421400-81422600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr14:81421400-81422800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr14:81421600-81422400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr14:81421600-81422400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:81421600-81422400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
15	chr14:81421600-81422400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
16	chr14:81421600-81422400	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr14:81421600-81422400	Bivalent Enhancer	Fetal Intestine Small	intestine
18	chr14:81421800-81422400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr14:81421800-81422400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr14:81421800-81422400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:81421800-81422400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:81421800-81422400	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr14:81421800-81422400	Flanking Active TSS	Liver	Liver
24	chr14:81421800-81422400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
25	chr14:81421800-81422400	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr14:81421800-81422400	Bivalent Enhancer	Fetal Stomach	stomach
27	chr14:81421800-81422400	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr14:81421800-81422400	Flanking Bivalent TSS/Enh	HepG2	liver
29	chr14:81421800-81422400	Bivalent Enhancer	NHLF	lung
30	chr14:81421800-81422800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr14:81421800-81422800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:81422000-81422400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
33	chr14:81422000-81422400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr14:81422000-81422400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr14:81422000-81422400	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr14:81422000-81422400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr14:81422000-81422400	Bivalent/Poised TSS	Fetal Brain Female	brain
38	chr14:81422000-81422600	Enhancers	K562	blood
39	chr14:81422000-81424400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr14:81422000-81425800	Weak transcription	Brain Angular Gyrus	brain
41	chr14:81422200-81422400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:81422200-81422400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
43	chr14:81422200-81422400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
44	chr14:81422200-81422400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
45	chr14:81422200-81422400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr14:81422200-81422400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:81422200-81422400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
48	chr14:81422200-81422400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
49	chr14:81422200-81422400	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
50	chr14:81422200-81422400	Active TSS	Primary T helper naive cells fromperipheralblood	blood

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