Variant report

Variant	rs4147769
Chromosome Location	chr5:1803564-1803565
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF2	chr5:1803288-1803618	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr5:1803472-1803651	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr5:1799223-1804902	K562	blood:	n/a	n/a
4	POLR2A	chr5:1803562-1803603	HepG2	liver:	n/a	n/a
5	POLR2A	chr5:1803390-1803642	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:1803153..1805432-chr5:1831999..1834113,2	MCF-7	breast:
2	chr5:1793765..1806799-chr5:1879445..1889322,45	MCF-7	breast:
3	chr5:1796457..1805482-chr5:1878036..1885786,21	MCF-7	breast:
4	chr5:1801625..1804390-chr5:1831978..1833592,2	K562	blood:

Variant related genes	Relation type
MRPL36	TF binding region
ENSG00000113430	Chromatin interaction
ENSG00000249116	Chromatin interaction
ENSG00000249326	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11133910	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11133911	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11133912	0.94[ASN][1000 genomes]
rs13187162	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1845288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1873926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242412	0.89[ASN][1000 genomes]
rs2276986	0.99[ASN][1000 genomes]
rs2291944	0.99[ASN][1000 genomes]
rs34233926	0.96[ASN][1000 genomes]
rs35380881	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3756343	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3756345	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3756346	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3776141	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3776142	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3776143	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3776144	0.97[ASN][1000 genomes]
rs3776145	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3776146	0.96[ASN][1000 genomes]
rs3776149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3822364	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4147770	0.99[ASN][1000 genomes]
rs4147772	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4147773	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975845	0.86[ASN][1000 genomes]
rs4975848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975849	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4975851	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4975852	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4975853	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55883912	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6555012	0.90[ASN][1000 genomes]
rs6863367	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7702843	0.94[ASN][1000 genomes]
rs972890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs972891	0.99[ASN][1000 genomes]
rs972892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs974722	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933805	chr5:1450724-1941619	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv817407	chr5:1495354-2191460	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
3	nsv1034552	chr5:1658338-1856553	Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
4	nsv537606	chr5:1658338-1856553	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
5	nsv1033147	chr5:1717303-1815821	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	nsv869236	chr5:1719263-2259100	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv1020703	chr5:1724199-1814288	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers 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	38 gene(s)	inside rSNPs	diseases
8	nsv537608	chr5:1724199-1814288	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	nsv1024133	chr5:1736691-1826510	Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
10	nsv537609	chr5:1736691-1826510	Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 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	chr5:1802200-1805800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:1802200-1806400	Weak transcription	Small Intestine	intestine
3	chr5:1802200-1827800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:1802400-1803600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:1802400-1803800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr5:1802600-1803600	Genic enhancers	Hela-S3	cervix
7	chr5:1802600-1803800	Weak transcription	Right Atrium	heart
8	chr5:1802600-1805000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
9	chr5:1802600-1814400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:1802800-1803800	Strong transcription	Left Ventricle	heart
11	chr5:1802800-1803800	Genic enhancers	HepG2	liver
12	chr5:1802800-1804000	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr5:1802800-1804400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
14	chr5:1802800-1804800	Genic enhancers	Fetal Heart	heart
15	chr5:1802800-1805200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
16	chr5:1802800-1807800	Strong transcription	HSMM	muscle
17	chr5:1802800-1808000	Strong transcription	NH-A	brain
18	chr5:1802800-1812800	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr5:1802800-1816000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:1802800-1817800	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:1802800-1818400	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr5:1802800-1818600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr5:1802800-1818800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr5:1802800-1821800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:1802800-1821800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr5:1802800-1822000	Strong transcription	Primary B cells from peripheral blood	blood
27	chr5:1802800-1822800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr5:1802800-1823000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr5:1802800-1823600	Strong transcription	Primary B cells from cord blood	blood
30	chr5:1802800-1825000	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr5:1802800-1825800	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr5:1802800-1826400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr5:1802800-1828400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:1803000-1803600	Genic enhancers	Brain Cingulate Gyrus	brain
35	chr5:1803000-1803600	Genic enhancers	Duodenum Smooth Muscle	Duodenum
36	chr5:1803000-1803600	Genic enhancers	Psoas Muscle	Psoas
37	chr5:1803000-1803800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:1803000-1803800	Weak transcription	Brain Germinal Matrix	brain
39	chr5:1803000-1803800	Strong transcription	Gastric	stomach
40	chr5:1803000-1803800	Strong transcription	Right Ventricle	heart
41	chr5:1803000-1804000	Strong transcription	Spleen	Spleen
42	chr5:1803000-1804200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:1803000-1804200	Genic enhancers	K562	blood
44	chr5:1803000-1804800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr5:1803000-1804800	Strong transcription	NHDF-Ad	bronchial
46	chr5:1803000-1805200	Strong transcription	Primary hematopoietic stem cells	blood
47	chr5:1803000-1805200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
48	chr5:1803000-1805400	Strong transcription	Fetal Kidney	kidney
49	chr5:1803000-1805600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr5:1803000-1807600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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