Variant report

Variant	rs3853416
Chromosome Location	chr14:81829767-81829768
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81828038..81830813-chr14:81831805..81834058,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10450894	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10450939	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10450940	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11623515	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11623634	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628716	0.88[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434395	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434434	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436146	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2012796	0.87[CEU][hapmap]
rs28818872	0.81[ASN][1000 genomes]
rs55921727	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs55991247	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56039699	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58532062	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61986576	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61986592	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6574646	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7146788	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7146802	0.87[CEU][hapmap];0.81[CHB][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7147012	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147254	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7147969	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7151434	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7153469	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8007219	0.80[ASN][1000 genomes]
rs8008024	0.85[ASN][1000 genomes]
rs8009083	0.86[CHB][hapmap];0.91[MEX][hapmap];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8009171	0.87[CEU][hapmap];0.86[CHB][hapmap];0.91[MEX][hapmap];0.85[ASN][1000 genomes]
rs8010181	0.86[CHB][hapmap];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8011609	0.81[ASN][1000 genomes]
rs8011624	0.83[ASN][1000 genomes]
rs8014260	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014636	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv902119	chr14:81810945-81884857	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81803800-81832200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:81808800-81830200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:81813400-81829800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:81820800-81836400	Weak transcription	K562	blood
5	chr14:81822000-81831200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:81822000-81834600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr14:81822200-81830600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr14:81824600-81830200	Weak transcription	Fetal Muscle Leg	muscle
9	chr14:81826400-81832600	Weak transcription	Psoas Muscle	Psoas
10	chr14:81826600-81831200	Weak transcription	Ovary	ovary
11	chr14:81826800-81830200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr14:81828600-81832200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:81828800-81830200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:81828800-81831200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:81829200-81829800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:81829200-81830000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:81829200-81830000	Enhancers	HMEC	breast
18	chr14:81829200-81833600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr14:81829400-81830200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:81829400-81830200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:81829400-81830200	Enhancers	NHEK	skin
22	chr14:81829400-81832400	Weak transcription	Esophagus	oesophagus
23	chr14:81829600-81832200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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