Variant report

Variant	rs17693345
Chromosome Location	chr14:83601317-83601318
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10484144	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10484148	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1457023	0.89[ASN][1000 genomes]
rs1457024	0.89[ASN][1000 genomes]
rs17618343	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17618745	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17619707	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17619743	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17619785	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17619863	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17619954	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17620045	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17620140	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17620419	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17620937	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs17621053	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs17622311	0.89[ASN][1000 genomes]
rs17622392	0.89[ASN][1000 genomes]
rs17622560	0.89[ASN][1000 genomes]
rs17622692	0.89[ASN][1000 genomes]
rs17622738	0.89[ASN][1000 genomes]
rs17680295	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17680331	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17680532	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17692603	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17692627	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17692662	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17692781	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17692829	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17693044	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17693086	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17693128	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17693321	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17693506	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17695868	0.89[ASN][1000 genomes]
rs17695891	0.89[ASN][1000 genomes]
rs17696490	0.89[ASN][1000 genomes]
rs17696516	0.89[ASN][1000 genomes]
rs17696540	0.89[ASN][1000 genomes]
rs2225383	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2225384	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2225385	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902126	chr14:83499664-83673387	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv902127	chr14:83524701-83746190	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1041909	chr14:83532477-83904217	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv542148	chr14:83532477-83904217	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv902128	chr14:83541394-83665111	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
6	nsv902129	chr14:83550975-83608855	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
7	nsv902130	chr14:83550975-83673387	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
8	nsv902131	chr14:83562841-83608855	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
9	nsv902132	chr14:83562841-83665111	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
10	nsv902133	chr14:83562841-83673387	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
11	nsv902134	chr14:83562841-83725177	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv902135	chr14:83583841-83725177	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv902136	chr14:83587297-83665111	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
14	nsv902137	chr14:83587297-83673387	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
15	nsv902138	chr14:83591673-83665111	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
16	nsv902139	chr14:83591673-83673387	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
17	nsv902140	chr14:83591673-83725177	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv902141	chr14:83593084-83673387	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
19	nsv902142	chr14:83593084-83688594	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv902143	chr14:83600010-83665111	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	inside rSNPs	diseases
21	nsv902144	chr14:83600010-83673387	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:83599000-83601400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr14:83599000-83601600	Enhancers	Fetal Brain Male	brain
3	chr14:83599000-83601600	Enhancers	Fetal Brain Female	brain
4	chr14:83600200-83604000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:83600400-83601400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr14:83600800-83601600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr14:83601000-83601600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr14:83601000-83602400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr14:83601000-83603600	Weak transcription	Fetal Heart	heart

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