Variant report

Variant	rs340331
Chromosome Location	chr2:179916172-179916173
allele	C/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	CEBPB	chr2:179916157-179916328	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
CCDC141	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10930851	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11688881	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12053571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12991291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12997314	0.82[GIH][hapmap]
rs13418701	0.82[GIH][hapmap]
rs1374378	0.82[GIH][hapmap]
rs1446674	0.82[GIH][hapmap]
rs17885265	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2007326	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2289992	0.82[GIH][hapmap]
rs2592566	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2655148	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs340319	0.81[EUR][1000 genomes]
rs340323	1.00[ASN][1000 genomes]
rs340325	0.93[ASN][1000 genomes]
rs340333	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs340337	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs340340	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4585064	0.82[GIH][hapmap]
rs55720955	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6433760	0.82[GIH][hapmap]
rs6433764	0.82[GIH][hapmap]
rs6743405	0.82[GIH][hapmap]
rs7581299	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7608882	0.82[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv875457	chr2:179775893-179966804	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv875458	chr2:179780624-179966804	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv875464	chr2:179843612-179939493	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875465	chr2:179843612-179966804	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv508184	chr2:179896384-179965419	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179912600-179916200	Enhancers	Fetal Kidney	kidney
2	chr2:179913400-179916400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:179913400-179916400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:179913600-179917000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:179913800-179916200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:179913800-179916200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:179913800-179916200	Enhancers	Fetal Lung	lung
8	chr2:179914600-179916200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:179914600-179916400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr2:179914800-179916200	Enhancers	Fetal Intestine Small	intestine
11	chr2:179914800-179916200	Enhancers	Stomach Smooth Muscle	stomach
12	chr2:179914800-179917000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:179915000-179916200	Enhancers	Adipose Nuclei	Adipose
14	chr2:179915000-179916400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr2:179915000-179916400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:179915000-179916400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:179915000-179916400	Enhancers	Fetal Intestine Large	intestine
18	chr2:179915000-179916400	Enhancers	HSMM	muscle
19	chr2:179915200-179916200	Enhancers	Primary B cells from peripheral blood	blood
20	chr2:179915200-179916200	Enhancers	Primary hematopoietic stem cells	blood
21	chr2:179915200-179916200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr2:179915200-179916200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:179915200-179916400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr2:179915200-179916400	Enhancers	Fetal Thymus	thymus
25	chr2:179915200-179923000	Weak transcription	Right Atrium	heart
26	chr2:179915400-179916200	Enhancers	Aorta	Aorta
27	chr2:179915400-179916400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr2:179915400-179916400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr2:179915400-179916400	Enhancers	Psoas Muscle	Psoas
30	chr2:179915600-179916200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr2:179915600-179916200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr2:179915600-179916200	Flanking Active TSS	HSMMtube	muscle
33	chr2:179915600-179916400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr2:179915600-179916400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr2:179915600-179916400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr2:179915600-179916400	Flanking Active TSS	Fetal Muscle Leg	muscle
37	chr2:179915600-179916400	Enhancers	Fetal Stomach	stomach
38	chr2:179915800-179916200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
39	chr2:179915800-179916200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:179915800-179916200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr2:179915800-179916400	Enhancers	Rectal Smooth Muscle	rectum
42	chr2:179915800-179916400	Enhancers	Right Ventricle	heart
43	chr2:179915800-179917000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr2:179916000-179916200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:179916000-179916200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:179916000-179916200	Enhancers	Liver	Liver
47	chr2:179916000-179916200	Flanking Active TSS	Fetal Heart	heart
48	chr2:179916000-179916200	Flanking Active TSS	Fetal Muscle Trunk	muscle
49	chr2:179916000-179916200	Enhancers	Pancreas	Pancrea
50	chr2:179916000-179916400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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