Variant report

Variant	rs2274595
Chromosome Location	chr9:117354943-117354944
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:117353134..117355926-chr9:117374941..117378550,3	K562	blood:
2	chr9:117353159..117354955-chr9:117365478..117367761,2	K562	blood:
3	chr9:117193657..117196136-chr9:117352909..117355233,2	MCF-7	breast:
4	chr9:117352767..117357185-chr9:117370509..117373613,4	MCF-7	breast:
5	chr9:117353689..117356575-chr9:117358293..117360775,2	K562	blood:
6	chr9:117352671..117355638-chr9:117369012..117372196,3	K562	blood:
7	chr9:117310558..117329379-chr9:117338511..117355772,81	MCF-7	breast:
8	chr9:117265313..117267725-chr9:117354854..117357027,2	K562	blood:
9	chr9:117264226..117271307-chr9:117346303..117355535,28	MCF-7	breast:
10	chr9:117346757..117362857-chr9:117372020..117377914,21	MCF-7	breast:
11	chr9:117354258..117355182-chr9:117415580..117416309,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000095397	Chromatin interaction
ENSG00000157693	Chromatin interaction
ENSG00000201749	Chromatin interaction
ENSG00000238530	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10817647	0.89[JPT][hapmap]
rs10817655	0.95[JPT][hapmap]
rs10982340	0.89[JPT][hapmap]
rs10982342	0.89[JPT][hapmap]
rs11792303	0.94[JPT][hapmap]
rs12379659	0.89[JPT][hapmap]
rs12553341	1.00[CEU][hapmap]
rs12555934	0.89[JPT][hapmap]
rs13293886	0.89[JPT][hapmap]
rs16930078	1.00[CEU][hapmap]
rs2418310	0.89[JPT][hapmap]
rs2418312	0.89[JPT][hapmap]
rs2900587	0.89[JPT][hapmap]
rs2900588	0.89[JPT][hapmap]
rs2900590	0.95[JPT][hapmap]
rs4246902	0.89[JPT][hapmap]
rs4978602	0.89[JPT][hapmap]
rs4979448	0.89[JPT][hapmap]
rs7027695	0.95[JPT][hapmap]
rs7031094	0.95[JPT][hapmap]
rs7043739	0.95[JPT][hapmap]
rs7043865	0.89[JPT][hapmap]
rs7046435	0.95[JPT][hapmap]
rs7047560	0.89[JPT][hapmap]
rs751780	0.89[JPT][hapmap]
rs756016	0.89[JPT][hapmap]
rs7855043	1.00[CEU][hapmap]
rs7856554	0.95[JPT][hapmap]
rs7866831	0.89[JPT][hapmap]
rs943843	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422492	chr9:116811294-117366643	Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
2	nsv1051544	chr9:116944940-117443031	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv540203	chr9:116944940-117443031	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
4	nsv1048093	chr9:116945025-117456210	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv1050991	chr9:116953739-117442999	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
6	nsv1046311	chr9:116953739-117447142	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
7	nsv1052877	chr9:116953739-117456210	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
8	nsv1039681	chr9:116953739-117457158	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
9	nsv1051987	chr9:116955841-117453668	Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
10	nsv1044374	chr9:116955841-117460150	Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
11	nsv466534	chr9:116956268-117455810	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
12	nsv615234	chr9:116956268-117455810	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
13	nsv1048817	chr9:116957958-117456210	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
14	nsv615235	chr9:116958144-117367061	ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
15	nsv615236	chr9:116958144-117455810	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
16	nsv466535	chr9:116958144-117456175	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
17	nsv615237	chr9:116958144-117456175	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
18	nsv615238	chr9:116958144-117458475	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
19	nsv430094	chr9:116958446-117456446	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
20	nsv1053756	chr9:116975934-117443031	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS 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	43 gene(s)	inside rSNPs	diseases
21	nsv540204	chr9:116975934-117443031	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
22	nsv1047704	chr9:116978041-117399362	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
23	nsv540205	chr9:116978041-117399362	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
24	nsv530950	chr9:117009156-117399361	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
25	nsv916139	chr9:117009169-117399454	Weak transcription Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
26	nsv530951	chr9:117032675-117439804	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
27	nsv831694	chr9:117328640-117502785	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117351400-117355800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:117351400-117362000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr9:117351400-117363400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:117351600-117356400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:117351800-117355000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:117351800-117355000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr9:117352000-117355200	Enhancers	Colon Smooth Muscle	Colon
8	chr9:117352000-117362400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:117352200-117355000	Enhancers	Adipose Nuclei	Adipose
10	chr9:117352200-117355000	Weak transcription	Brain Germinal Matrix	brain
11	chr9:117352200-117355000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr9:117352200-117355200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr9:117352600-117356000	Weak transcription	Ovary	ovary
14	chr9:117352800-117355200	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr9:117352800-117355400	Enhancers	Stomach Mucosa	stomach
16	chr9:117353000-117355000	Enhancers	Fetal Heart	heart
17	chr9:117353200-117355000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr9:117353200-117355200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr9:117353200-117355200	Enhancers	Stomach Smooth Muscle	stomach
20	chr9:117353400-117355000	Weak transcription	Lung	lung
21	chr9:117353400-117355000	Flanking Active TSS	GM12878-XiMat	blood
22	chr9:117353400-117355000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr9:117353400-117355200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr9:117353400-117355200	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr9:117353400-117355200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr9:117353400-117355200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr9:117353400-117355200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr9:117353400-117355200	Enhancers	HSMMtube	muscle
29	chr9:117353400-117355400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr9:117353600-117355000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr9:117353600-117355000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr9:117353600-117355000	Enhancers	Brain Angular Gyrus	brain
33	chr9:117353600-117355000	Enhancers	HUVEC	blood vessel
34	chr9:117353600-117355200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr9:117353600-117361600	Strong transcription	A549	lung
36	chr9:117353600-117362600	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr9:117353600-117363400	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr9:117353800-117355400	Genic enhancers	Dnd41	blood
39	chr9:117353800-117360800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr9:117354000-117355000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr9:117354000-117355000	Enhancers	Brain Anterior Caudate	brain
42	chr9:117354000-117355000	Weak transcription	Right Ventricle	heart
43	chr9:117354000-117355000	Enhancers	Osteobl	bone
44	chr9:117354000-117356200	Strong transcription	K562	blood
45	chr9:117354000-117359800	Weak transcription	Fetal Brain Male	brain
46	chr9:117354000-117362600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr9:117354000-117362800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr9:117354200-117355200	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr9:117354200-117355400	Genic enhancers	Brain Inferior Temporal Lobe	brain
50	chr9:117354200-117355600	Genic enhancers	Fetal Intestine Small	intestine

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