Variant report

Variant	rs32592
Chromosome Location	chr5:14169856-14169857
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14142896..14145532-chr5:14165451..14171947,7	MCF-7	breast:
2	chr5:14155612..14157633-chr5:14167547..14170120,2	MCF-7	breast:
3	chr5:14162893..14167437-chr5:14167557..14171144,6	MCF-7	breast:
4	chr5:14167574..14170191-chr5:14172276..14175858,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10042362	1.00[YRI][hapmap]
rs152323	0.87[AFR][1000 genomes]
rs152383	0.83[ASN][1000 genomes]
rs163823	0.86[JPT][hapmap]
rs168756	0.86[ASN][1000 genomes]
rs248893	0.86[JPT][hapmap]
rs248894	0.86[JPT][hapmap]
rs250842	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs250848	0.86[ASN][1000 genomes]
rs26273	0.86[JPT][hapmap]
rs26277	0.91[JPT][hapmap]
rs26280	1.00[YRI][hapmap]
rs26286	0.83[CHB][hapmap];0.85[CHD][hapmap]
rs27483	0.86[JPT][hapmap]
rs32571	0.83[CHD][hapmap]
rs32593	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32595	0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.81[TSI][hapmap];0.93[ASN][1000 genomes]
rs33022	0.90[ASN][1000 genomes]
rs33023	0.90[ASN][1000 genomes]
rs352657	0.81[ASN][1000 genomes]
rs388154	0.86[JPT][hapmap]
rs40301	0.84[ASN][1000 genomes]
rs42292	0.93[ASN][1000 genomes]
rs460446	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432716	chr5:13779700-14184600	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv516415	chr5:13788886-14210897	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv1019196	chr5:13790760-14187503	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	esv2830407	chr5:13793627-14172298	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv1024836	chr5:13798819-14170244	Enhancers Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1020626	chr5:13798819-14177235	Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv1015479	chr5:13798819-14180804	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	esv2760949	chr5:13798819-14182550	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv1017356	chr5:13798819-14182550	Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv1018474	chr5:13798819-14184599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
11	nsv1024037	chr5:13798819-14185039	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv1030787	chr5:13799381-14180804	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
13	nsv1018784	chr5:13815834-14178505	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
14	nsv537672	chr5:13815834-14178505	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
15	nsv1027816	chr5:13847043-14172158	Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
16	nsv537673	chr5:13847043-14172158	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
17	nsv534466	chr5:13847044-14246208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
18	nsv1020258	chr5:13849471-14178505	Genic enhancers Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
19	nsv537674	chr5:13849471-14178505	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
20	esv2752061	chr5:14109455-14178040	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
21	esv1830112	chr5:14147376-14222601	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS 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	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14157400-14171800	Weak transcription	Fetal Kidney	kidney
2	chr5:14157800-14173000	Weak transcription	Colonic Mucosa	Colon
3	chr5:14164600-14171800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:14164600-14181600	Weak transcription	Esophagus	oesophagus
5	chr5:14165000-14171400	Weak transcription	Fetal Brain Female	brain
6	chr5:14165000-14174600	Genic enhancers	HSMM	muscle
7	chr5:14165200-14170000	Enhancers	NHEK	skin
8	chr5:14165200-14170200	Enhancers	HMEC	breast
9	chr5:14165200-14170400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:14165200-14175400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:14165400-14171600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:14165400-14174800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr5:14165600-14170200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:14165600-14175000	Enhancers	NHDF-Ad	bronchial
15	chr5:14165800-14170200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:14165800-14171200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:14165800-14171200	Enhancers	Osteobl	bone
18	chr5:14165800-14175200	Enhancers	Colon Smooth Muscle	Colon
19	chr5:14166000-14171800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:14166000-14174000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr5:14166000-14174000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr5:14166000-14176000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:14166200-14170200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:14166200-14171800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:14166200-14173600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr5:14166400-14170400	Enhancers	Liver	Liver
27	chr5:14166400-14173600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:14166400-14173800	Weak transcription	Fetal Intestine Small	intestine
29	chr5:14166400-14177600	Weak transcription	Hela-S3	cervix
30	chr5:14166600-14170200	Enhancers	Fetal Heart	heart
31	chr5:14166800-14171400	Enhancers	NHLF	lung
32	chr5:14167000-14174200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:14167200-14170600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:14167200-14171600	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr5:14167200-14173400	Weak transcription	Gastric	stomach
36	chr5:14167200-14174200	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr5:14167200-14176000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr5:14167400-14173600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:14167400-14173800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:14167600-14174000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr5:14167800-14170200	ZNF genes & repeats	Right Atrium	heart
42	chr5:14167800-14171000	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr5:14168000-14171400	Enhancers	A549	lung
44	chr5:14168000-14171800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:14168000-14172200	Weak transcription	Brain Angular Gyrus	brain
46	chr5:14168000-14172400	Weak transcription	Ovary	ovary
47	chr5:14168000-14172400	Weak transcription	Spleen	Spleen
48	chr5:14168200-14170200	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr5:14168400-14170000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr5:14168400-14170200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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