Variant report

Variant	rs71415050
Chromosome Location	chr14:97208549-97208550
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10136975	0.97[ASN][1000 genomes]
rs10139304	0.92[ASN][1000 genomes]
rs10139694	0.97[ASN][1000 genomes]
rs10143101	0.99[ASN][1000 genomes]
rs10143369	0.97[ASN][1000 genomes]
rs10146854	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11160362	0.99[ASN][1000 genomes]
rs11160363	0.97[ASN][1000 genomes]
rs11623288	0.80[ASN][1000 genomes]
rs11629293	0.82[ASN][1000 genomes]
rs12147403	0.97[ASN][1000 genomes]
rs12434260	0.97[ASN][1000 genomes]
rs12587775	0.86[EUR][1000 genomes]
rs12880425	0.88[ASN][1000 genomes]
rs12882386	0.92[EUR][1000 genomes]
rs12895746	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951837	0.92[ASN][1000 genomes]
rs1977264	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28670537	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2887581	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34142794	0.97[ASN][1000 genomes]
rs34344944	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34742182	0.92[ASN][1000 genomes]
rs35981455	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4243716	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4578584	0.80[ASN][1000 genomes]
rs59880225	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66487336	0.97[ASN][1000 genomes]
rs7157651	0.96[ASN][1000 genomes]
rs737209	0.99[ASN][1000 genomes]
rs8009078	0.86[ASN][1000 genomes]
rs8012361	0.93[ASN][1000 genomes]
rs8014262	0.81[ASN][1000 genomes]
rs8015493	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912343	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	nsv1048302	chr14:97000845-97250538	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1041078	chr14:97001679-97279220	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1050075	chr14:97004951-97279220	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1044202	chr14:97155291-97683983	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv542179	chr14:97155291-97683983	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv85164	chr14:97207464-97209699	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97206200-97208800	Enhancers	Fetal Brain Male	brain
2	chr14:97207400-97208600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr14:97207400-97208600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr14:97207400-97208800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr14:97207600-97208600	Active TSS	H1 Cell Line	embryonic stem cell
6	chr14:97207600-97208600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:97207800-97208600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr14:97207800-97208600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
9	chr14:97208000-97208600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
10	chr14:97208200-97208600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr14:97208200-97208600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:97208400-97208600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
13	chr14:97208400-97208600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:97208400-97208600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr14:97208400-97208600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
16	chr14:97208400-97208600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
17	chr14:97208400-97208600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:97208400-97208600	Bivalent/Poised TSS	Primary B cells from cord blood	blood
19	chr14:97208400-97208600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr14:97208400-97208600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:97208400-97208600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:97208400-97208600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:97208400-97208600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:97208400-97208600	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr14:97208400-97208600	Enhancers	Brain Hippocampus Middle	brain
26	chr14:97208400-97208600	Flanking Active TSS	Fetal Brain Female	brain
27	chr14:97208400-97208800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
28	chr14:97208400-97211600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:97208400-97211600	Weak transcription	Right Atrium	heart

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