Variant report

Variant	rs4899131
Chromosome Location	chr14:64485301-64485302
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64479160..64481857-chr14:64484574..64486419,2	MCF-7	breast:
2	chr14:64483143..64485630-chr14:64487133..64489542,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10135588	0.81[ASN][1000 genomes]
rs10151127	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11622858	0.81[ASN][1000 genomes]
rs11844088	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844628	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255950	1.00[JPT][hapmap]
rs1255952	1.00[JPT][hapmap]
rs1255954	0.84[CEU][hapmap]
rs1255955	1.00[JPT][hapmap]
rs1255960	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1255961	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1255964	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1255965	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs1255966	0.85[CEU][hapmap]
rs1255967	0.84[CEU][hapmap]
rs1255968	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1255973	0.82[ASN][1000 genomes]
rs12586503	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1262240	0.84[CEU][hapmap]
rs1890908	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2153481	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2781377	1.00[JPT][hapmap]
rs2781378	0.82[ASN][1000 genomes]
rs28572628	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28609254	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3829767	0.84[CEU][hapmap]
rs3866737	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4027402	0.91[CEU][hapmap]
rs4027404	0.91[CEU][hapmap]
rs4027405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4275767	0.84[EUR][1000 genomes]
rs4462521	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4902264	0.91[CEU][hapmap]
rs6573542	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144722	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7146859	0.80[ASN][1000 genomes]
rs7147157	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150982	0.80[ASN][1000 genomes]
rs7157594	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7157993	0.82[ASN][1000 genomes]
rs7158401	0.85[CEU][hapmap]
rs8007972	1.00[JPT][hapmap]
rs8010699	0.84[CEU][hapmap]
rs8010911	0.85[CEU][hapmap]
rs963289	0.85[CEU][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	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv902020	chr14:64434288-64506541	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64395000-64491000	Weak transcription	Psoas Muscle	Psoas
2	chr14:64419200-64489000	Weak transcription	Small Intestine	intestine
3	chr14:64442400-64491000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:64457000-64502000	Strong transcription	Placenta	Placenta
5	chr14:64457000-64519200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr14:64458800-64490400	Weak transcription	Colonic Mucosa	Colon
7	chr14:64460000-64488000	Weak transcription	Pancreas	Pancrea
8	chr14:64460000-64513400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:64460600-64495000	Weak transcription	NHDF-Ad	bronchial
10	chr14:64463200-64491000	Weak transcription	Fetal Brain Male	brain
11	chr14:64464000-64488600	Weak transcription	HUVEC	blood vessel
12	chr14:64466400-64490600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr14:64466600-64490400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr14:64466600-64513200	Weak transcription	NHEK	skin
15	chr14:64466600-64593200	Weak transcription	Colon Smooth Muscle	Colon
16	chr14:64468800-64527200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr14:64469200-64488000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr14:64469600-64518400	Weak transcription	HMEC	breast
19	chr14:64470000-64490600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr14:64470200-64488000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr14:64470600-64487600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr14:64471800-64487000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr14:64471800-64488000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr14:64471800-64489800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:64471800-64490800	Weak transcription	Spleen	Spleen
26	chr14:64471800-64505200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr14:64472000-64485400	Weak transcription	Primary B cells from cord blood	blood
28	chr14:64472200-64488000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr14:64473000-64515000	Weak transcription	Hela-S3	cervix
30	chr14:64474400-64505000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:64475000-64487800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:64475000-64488400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr14:64475200-64527200	Weak transcription	Fetal Heart	heart
34	chr14:64475600-64489600	Weak transcription	Lung	lung
35	chr14:64475600-64505600	Weak transcription	Esophagus	oesophagus
36	chr14:64475600-64518400	Weak transcription	Gastric	stomach
37	chr14:64476000-64487000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr14:64477600-64487600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr14:64478600-64488000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr14:64478800-64492200	Weak transcription	Aorta	Aorta
41	chr14:64479000-64487200	Weak transcription	Adipose Nuclei	Adipose
42	chr14:64479000-64488000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr14:64479000-64488600	Weak transcription	Ovary	ovary
44	chr14:64479000-64489000	Weak transcription	Fetal Thymus	thymus
45	chr14:64479000-64489000	Weak transcription	Right Ventricle	heart
46	chr14:64479200-64488400	Weak transcription	Fetal Muscle Leg	muscle
47	chr14:64479200-64526200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr14:64480400-64488000	Weak transcription	Left Ventricle	heart
49	chr14:64480400-64494200	Weak transcription	HepG2	liver
50	chr14:64481400-64487400	Weak transcription	Rectal Mucosa Donor 31	rectum

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