Variant report

Variant	rs675204
Chromosome Location	chr18:11899612-11899613
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	POLR2A	chr18:11899225-11899850	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:11892388..11894879-chr18:11897284..11900106,3	K562	blood:
2	chr18:11898547..11901109-chr18:11904202..11906126,2	K562	blood:
3	chr18:11899516..11901029-chr18:11908171..11909985,2	MCF-7	breast:

Variant related genes	Relation type
MPPE1	TF binding region
ENSG00000273141	Chromatin interaction
ENSG00000154889	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11872520	1.00[EUR][1000 genomes]
rs12455436	0.88[CHB][hapmap];0.80[ASN][1000 genomes]
rs12456011	0.80[ASN][1000 genomes]
rs12457818	0.80[ASN][1000 genomes]
rs12458375	0.89[CHB][hapmap];0.80[ASN][1000 genomes]
rs34932177	0.80[ASN][1000 genomes]
rs9951637	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833590	chr18:11757329-11924539	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	nsv1059775	chr18:11892845-11911143	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv2758470	chr18:11897023-12076102	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	esv2758713	chr18:11897023-12076102	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11873200-11902000	Weak transcription	Fetal Heart	heart
2	chr18:11876800-11902600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr18:11877000-11902400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr18:11878200-11902400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr18:11880000-11907600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr18:11881800-11906200	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr18:11882400-11907000	Weak transcription	Small Intestine	intestine
8	chr18:11883600-11907000	Weak transcription	NH-A	brain
9	chr18:11884000-11899800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr18:11884000-11906200	Strong transcription	Fetal Thymus	thymus
11	chr18:11885000-11905400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr18:11885400-11907000	Weak transcription	HMEC	breast
13	chr18:11885600-11905800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr18:11885600-11907400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr18:11886600-11903200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr18:11886600-11906200	Weak transcription	Fetal Kidney	kidney
17	chr18:11886800-11902200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr18:11886800-11902400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr18:11887000-11902200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr18:11887200-11902600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr18:11887200-11902800	Weak transcription	HSMMtube	muscle
22	chr18:11888000-11905600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr18:11888000-11907200	Weak transcription	HSMM	muscle
24	chr18:11888200-11907200	Weak transcription	Stomach Mucosa	stomach
25	chr18:11888400-11901800	Weak transcription	Gastric	stomach
26	chr18:11888600-11902600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr18:11888600-11905400	Weak transcription	A549	lung
28	chr18:11888800-11902400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr18:11889400-11905800	Weak transcription	HepG2	liver
30	chr18:11889400-11907000	Weak transcription	NHEK	skin
31	chr18:11889600-11907000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr18:11890000-11902200	Weak transcription	Aorta	Aorta
33	chr18:11890000-11902200	Weak transcription	Pancreas	Pancrea
34	chr18:11890800-11902000	Weak transcription	Esophagus	oesophagus
35	chr18:11890800-11907000	Weak transcription	Psoas Muscle	Psoas
36	chr18:11890800-11907200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr18:11891000-11902200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr18:11891000-11907000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr18:11891000-11907000	Weak transcription	Colon Smooth Muscle	Colon
40	chr18:11892000-11902200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr18:11892200-11902200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr18:11892200-11905400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr18:11892800-11905600	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr18:11893000-11902200	Weak transcription	GM12878-XiMat	blood
45	chr18:11893400-11902200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr18:11893800-11907200	Weak transcription	Ovary	ovary
47	chr18:11894000-11902200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr18:11894000-11907200	Weak transcription	Fetal Lung	lung
49	chr18:11894200-11907400	Weak transcription	HUVEC	blood vessel
50	chr18:11895200-11900200	Strong transcription	Placenta	Placenta

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