Variant report

Variant	rs4975845
Chromosome Location	chr5:1794148-1794149
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:1794019..1795658-chr5:2041608..2044062,2	MCF-7	breast:
2	chr5:1793350..1795860-chr5:1944846..1947402,2	MCF-7	breast:
3	chr5:1793765..1806799-chr5:1879445..1889322,45	MCF-7	breast:
4	chr5:1787615..1789328-chr5:1793761..1797388,3	K562	blood:

Variant related genes	Relation type
ENSG00000113430	Chromatin interaction
ENSG00000249326	Chromatin interaction
ENSG00000249116	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	0.81[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs11133911	0.83[ASN][1000 genomes]
rs11133912	0.82[ASN][1000 genomes]
rs11953809	0.91[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs11957879	0.91[CEU][hapmap];0.86[CHB][hapmap];0.83[EUR][1000 genomes]
rs13187162	0.81[ASN][1000 genomes]
rs1845288	0.86[ASN][1000 genomes]
rs1873926	0.89[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs2276986	0.86[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs2291944	0.86[CHB][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs34233926	0.84[ASN][1000 genomes]
rs35380881	0.83[ASN][1000 genomes]
rs3756343	0.81[CHB][hapmap];0.89[CHD][hapmap];0.84[ASN][1000 genomes]
rs3756345	0.81[CHB][hapmap];0.84[ASN][1000 genomes]
rs3756346	0.81[CHB][hapmap];0.84[ASN][1000 genomes]
rs3776141	0.81[CHB][hapmap];0.83[ASN][1000 genomes]
rs3776142	0.81[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs3776143	0.84[ASN][1000 genomes]
rs3776144	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs3776145	0.86[ASN][1000 genomes]
rs3776146	0.84[ASN][1000 genomes]
rs3776149	0.81[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs3822364	0.84[ASN][1000 genomes]
rs4147769	0.86[ASN][1000 genomes]
rs4147770	0.87[ASN][1000 genomes]
rs4147772	0.81[CHB][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs4147773	0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs4975848	0.81[CHB][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs4975849	0.81[CHB][hapmap];0.84[ASN][1000 genomes]
rs4975851	0.83[ASN][1000 genomes]
rs4975852	0.81[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs4975853	0.81[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs55883912	0.84[ASN][1000 genomes]
rs6863367	0.85[ASN][1000 genomes]
rs7702843	0.82[ASW][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.83[ASN][1000 genomes]
rs972890	0.81[CHB][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs972891	0.86[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs972892	0.81[CHB][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs974722	0.84[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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1785200-1795000	Weak transcription	Spleen	Spleen
2	chr5:1785200-1796000	Weak transcription	Thymus	Thymus
3	chr5:1786800-1796000	Weak transcription	Gastric	stomach
4	chr5:1789000-1795200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr5:1789200-1796400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:1789200-1796400	Weak transcription	Esophagus	oesophagus
7	chr5:1789400-1795600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:1790200-1795600	Enhancers	Fetal Muscle Leg	muscle
9	chr5:1790200-1796200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:1790400-1794200	Weak transcription	Fetal Heart	heart
11	chr5:1790400-1795600	Enhancers	NHDF-Ad	bronchial
12	chr5:1790400-1796400	Weak transcription	Brain Anterior Caudate	brain
13	chr5:1790400-1796800	Weak transcription	Brain Hippocampus Middle	brain
14	chr5:1790600-1794200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:1790600-1794400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:1790600-1796200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr5:1790600-1796400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr5:1790600-1796600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr5:1790600-1797000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:1790600-1797000	Weak transcription	Fetal Lung	lung
21	chr5:1790600-1797800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:1790800-1795200	Enhancers	Fetal Thymus	thymus
23	chr5:1790800-1796000	Weak transcription	Brain Substantia Nigra	brain
24	chr5:1790800-1796200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr5:1790800-1796400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr5:1790800-1796600	Weak transcription	Adipose Nuclei	Adipose
27	chr5:1790800-1797000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:1791000-1794800	Weak transcription	Fetal Stomach	stomach
29	chr5:1791000-1795200	Weak transcription	Fetal Brain Female	brain
30	chr5:1791000-1795200	Enhancers	NHLF	lung
31	chr5:1791000-1795600	Enhancers	Osteobl	bone
32	chr5:1791000-1796000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr5:1791000-1796200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:1791000-1796200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:1791000-1796400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr5:1791000-1796400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr5:1791000-1796600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr5:1791000-1796600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr5:1791000-1798800	Weak transcription	Fetal Brain Male	brain
40	chr5:1791000-1800200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr5:1791200-1795800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr5:1791200-1796200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:1791400-1794400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr5:1791400-1794600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:1791400-1796600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr5:1791600-1795400	Weak transcription	Brain Germinal Matrix	brain
47	chr5:1791600-1796600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr5:1791800-1794400	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr5:1792200-1795800	Weak transcription	Fetal Intestine Small	intestine
50	chr5:1792400-1795400	Enhancers	HMEC	breast

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