Variant report

Variant	rs33030
Chromosome Location	chr5:14178040-14178041
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14176923..14179557-chr5:14181390..14183679,4	MCF-7	breast:
2	chr5:14170146..14172606-chr5:14175990..14178962,3	MCF-7	breast:
3	chr5:14143461..14145667-chr5:14177391..14179241,3	MCF-7	breast:
4	chr5:14175441..14177437-chr5:14177800..14180051,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs152781	0.94[EUR][1000 genomes]
rs164109	0.84[LWK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs245513	0.94[EUR][1000 genomes]
rs26290	1.00[CEU][hapmap];0.94[GIH][hapmap];0.82[LWK][hapmap];0.81[YRI][hapmap];0.94[EUR][1000 genomes]
rs26292	1.00[CEU][hapmap];0.81[YRI][hapmap];0.94[EUR][1000 genomes]
rs27367	1.00[CEU][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs27632	1.00[CEU][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs27666	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs32976	1.00[CEU][hapmap]
rs32977	1.00[CEU][hapmap]
rs32978	1.00[CEU][hapmap]
rs32979	1.00[CEU][hapmap]
rs33028	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs33029	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs348113	1.00[CEU][hapmap]
rs348116	1.00[CEU][hapmap]
rs40298	1.00[CEU][hapmap]
rs42289	0.94[EUR][1000 genomes]
rs62344640	0.92[EUR][1000 genomes]
rs62346562	0.89[EUR][1000 genomes]
rs696289	0.89[EUR][1000 genomes]
rs696290	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14164600-14181600	Weak transcription	Esophagus	oesophagus
2	chr5:14169200-14180400	Enhancers	HepG2	liver
3	chr5:14172600-14178200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:14174400-14178600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:14174400-14183400	Weak transcription	Fetal Lung	lung
6	chr5:14174400-14184400	Weak transcription	Colonic Mucosa	Colon
7	chr5:14174600-14178200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:14174600-14178400	Enhancers	A549	lung
9	chr5:14174600-14179600	Weak transcription	Fetal Intestine Small	intestine
10	chr5:14174600-14183000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:14174800-14178200	Weak transcription	Adipose Nuclei	Adipose
12	chr5:14174800-14178400	Weak transcription	Brain Substantia Nigra	brain
13	chr5:14174800-14178400	Weak transcription	HMEC	breast
14	chr5:14174800-14178800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr5:14174800-14178800	Weak transcription	Fetal Stomach	stomach
16	chr5:14174800-14179000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr5:14174800-14179000	Weak transcription	Placenta	Placenta
18	chr5:14174800-14179200	Enhancers	GM12878-XiMat	blood
19	chr5:14174800-14181400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:14174800-14181400	Weak transcription	Thymus	Thymus
21	chr5:14174800-14184000	Weak transcription	Fetal Kidney	kidney
22	chr5:14175000-14178200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr5:14175000-14181400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr5:14175000-14184000	Weak transcription	Stomach Mucosa	stomach
25	chr5:14175000-14191600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr5:14175200-14186400	Weak transcription	Primary B cells from cord blood	blood
27	chr5:14175600-14181000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:14175800-14181800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:14176000-14180000	Enhancers	Liver	Liver
30	chr5:14176200-14178800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr5:14176400-14178800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:14176600-14179000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:14176600-14179800	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr5:14176600-14182800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:14176800-14178200	Weak transcription	HUVEC	blood vessel
36	chr5:14176800-14178400	Enhancers	NHDF-Ad	bronchial
37	chr5:14176800-14178600	Enhancers	Colon Smooth Muscle	Colon
38	chr5:14177000-14178400	Enhancers	NHLF	lung
39	chr5:14177000-14180600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:14177200-14178400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:14177200-14178400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:14177200-14178600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr5:14177200-14178800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr5:14177200-14178800	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr5:14177200-14179200	Enhancers	Fetal Heart	heart
46	chr5:14177200-14179800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr5:14177200-14180000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr5:14177200-14180000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr5:14177200-14180000	Enhancers	Rectal Smooth Muscle	rectum
50	chr5:14177200-14180200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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