Variant report

Variant	rs17109985
Chromosome Location	chr14:40347302-40347303
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1957222	1.00[EUR][1000 genomes]
rs2057268	1.00[EUR][1000 genomes]
rs60029883	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60412347	1.00[EUR][1000 genomes]
rs7140572	1.00[EUR][1000 genomes]
rs7144517	1.00[EUR][1000 genomes]
rs73282971	1.00[EUR][1000 genomes]
rs73289388	1.00[EUR][1000 genomes]
rs73300825	1.00[EUR][1000 genomes]
rs73300833	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530658	chr14:40214958-40734070	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv2751272	chr14:40216880-40913230	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv525070	chr14:40302876-40353756	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv901660	chr14:40302876-40410765	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1047949	chr14:40307360-40474579	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40333400-40348600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:40342400-40347400	Enhancers	Fetal Intestine Large	intestine
3	chr14:40344200-40350400	Weak transcription	Fetal Intestine Small	intestine
4	chr14:40345200-40347400	Enhancers	Fetal Kidney	kidney
5	chr14:40345600-40347400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr14:40345600-40347400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:40345600-40347600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr14:40345600-40348800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr14:40346200-40347400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr14:40346200-40347400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:40346400-40347400	Enhancers	H9 Cell Line	embryonic stem cell
12	chr14:40346400-40347400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr14:40346400-40347600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr14:40346400-40350000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr14:40346400-40358000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:40346600-40347600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr14:40346600-40348200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr14:40346800-40347400	Active TSS	GM12878-XiMat	blood
19	chr14:40347000-40347400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr14:40347000-40347600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:40347200-40347400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:40347200-40347400	Enhancers	Brain Angular Gyrus	brain

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