Variant report

Variant	rs73523060
Chromosome Location	chr19:18533022-18533023
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:18532982-18534854	K562	blood:	n/a	n/a
2	POLR2A	chr19:18532964-18533151	K562	blood:	n/a	n/a
3	POLR2A	chr19:18532925-18533162	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18385043..18394940-chr19:18518893..18533267,53	K562	blood:
2	chr19:18431922..18434766-chr19:18532298..18535226,2	MCF-7	breast:
3	chr19:18531228..18534737-chr19:18549514..18551818,3	MCF-7	breast:
4	chr19:18449803..18452751-chr19:18530696..18534160,4	MCF-7	breast:
5	chr19:18527431..18533703-chr19:18536573..18544512,11	MCF-7	breast:
6	chr19:18531274..18534025-chr19:18699060..18700939,2	K562	blood:
7	chr19:18383365..18408325-chr19:18518460..18533256,66	K562	blood:
8	chr19:18528980..18530981-chr19:18532630..18535154,2	MCF-7	breast:

No data

Variant related genes	Relation type
SSBP4	TF binding region
ENSG00000006015	Chromatin interaction
ENSG00000130518	Chromatin interaction
ENSG00000241464	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000130517	Chromatin interaction
ENSG00000130520	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10409185	1.00[EUR][1000 genomes]
rs10410957	1.00[EUR][1000 genomes]
rs10415054	1.00[EUR][1000 genomes]
rs10418124	1.00[EUR][1000 genomes]
rs10451485	1.00[EUR][1000 genomes]
rs11880673	1.00[EUR][1000 genomes]
rs11881620	1.00[EUR][1000 genomes]
rs28489988	1.00[EUR][1000 genomes]
rs28537851	1.00[EUR][1000 genomes]
rs28706490	1.00[EUR][1000 genomes]
rs28819668	1.00[EUR][1000 genomes]
rs58749284	1.00[EUR][1000 genomes]
rs7256004	1.00[EUR][1000 genomes]
rs73523064	1.00[EUR][1000 genomes]
rs73523067	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73523088	1.00[EUR][1000 genomes]
rs73525104	1.00[EUR][1000 genomes]
rs73525115	1.00[EUR][1000 genomes]
rs73527416	1.00[EUR][1000 genomes]
rs73529387	1.00[EUR][1000 genomes]
rs8101797	1.00[EUR][1000 genomes]
rs8102661	1.00[EUR][1000 genomes]
rs8103073	1.00[EUR][1000 genomes]
rs8103429	1.00[EUR][1000 genomes]
rs8105314	1.00[EUR][1000 genomes]
rs8107049	1.00[EUR][1000 genomes]
rs8107327	1.00[EUR][1000 genomes]
rs9749302	1.00[EUR][1000 genomes]
rs9917071	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
3	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
4	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription 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 miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS 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	61 gene(s)	inside rSNPs	diseases
8	nsv911275	chr19:18484922-18586759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
9	nsv911276	chr19:18497141-18554972	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
10	nsv911277	chr19:18520231-18552139	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
11	nsv1060687	chr19:18522527-18643218	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
12	nsv911278	chr19:18526536-18550276	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18531200-18533800	Weak transcription	Small Intestine	intestine
2	chr19:18531200-18534000	Enhancers	Primary B cells from cord blood	blood
3	chr19:18531200-18540000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr19:18531400-18533200	Enhancers	Esophagus	oesophagus
5	chr19:18531400-18533200	Enhancers	Pancreas	Pancrea
6	chr19:18531400-18533800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr19:18531400-18533800	Weak transcription	Left Ventricle	heart
8	chr19:18531400-18533800	Enhancers	Spleen	Spleen
9	chr19:18531400-18534000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:18531400-18534000	Enhancers	Thymus	Thymus
11	chr19:18531400-18534600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr19:18531400-18534600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr19:18531400-18535400	Enhancers	Primary B cells from peripheral blood	blood
14	chr19:18531400-18536400	Weak transcription	Liver	Liver
15	chr19:18531400-18537400	Enhancers	Fetal Thymus	thymus
16	chr19:18531400-18539400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr19:18531400-18539600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr19:18531400-18539800	Weak transcription	Brain Substantia Nigra	brain
19	chr19:18531400-18543000	Enhancers	Fetal Brain Male	brain
20	chr19:18531600-18534000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr19:18531600-18535200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr19:18531800-18533200	Enhancers	Primary T cells from cord blood	blood
23	chr19:18531800-18533200	Enhancers	Fetal Muscle Trunk	muscle
24	chr19:18531800-18533600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr19:18531800-18533800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr19:18531800-18533800	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr19:18531800-18534000	Enhancers	HUVEC	blood vessel
28	chr19:18531800-18535200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr19:18531800-18535200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr19:18531800-18535600	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr19:18531800-18537600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr19:18531800-18539600	Genic enhancers	Fetal Stomach	stomach
33	chr19:18532000-18533200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr19:18532000-18533200	Enhancers	Stomach Smooth Muscle	stomach
35	chr19:18532000-18533400	Genic enhancers	NHLF	lung
36	chr19:18532000-18534200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr19:18532000-18534600	Weak transcription	Fetal Lung	lung
38	chr19:18532000-18535000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr19:18532000-18535400	Enhancers	Colonic Mucosa	Colon
40	chr19:18532000-18536200	Weak transcription	Gastric	stomach
41	chr19:18532000-18536200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr19:18532000-18536400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr19:18532000-18536400	Weak transcription	NH-A	brain
44	chr19:18532000-18536600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr19:18532000-18536800	Weak transcription	HMEC	breast
46	chr19:18532000-18537200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr19:18532200-18533400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr19:18532200-18533400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr19:18532200-18534400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr19:18532200-18534600	Enhancers	Brain Angular Gyrus	brain

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