Variant report

Variant	rs17775319
Chromosome Location	chr5:147480107-147480108
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10052211	0.93[CEU][hapmap]
rs10515602	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10515603	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11168019	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11168020	1.00[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap]
rs11168021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11168022	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs11168033	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs11743440	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11948406	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11948461	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11955201	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11958432	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs11959273	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12187820	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12188819	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12514503	0.85[CEU][hapmap]
rs12657460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13160662	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13181329	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs1422987	0.82[CHB][hapmap]
rs1422991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17704908	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1978446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2052531	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2052532	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2052534	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2052536	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2112765	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2112766	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2112767	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2161434	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2303062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2303063	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs2303064	0.82[CHB][hapmap]
rs2303065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2303066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2303067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2303068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2303071	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2400477	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2400478	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs3756690	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3764926	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs3764930	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3777134	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3777135	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3815736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4334874	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4349706	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4519913	0.93[CEU][hapmap]
rs4705054	0.84[CHB][hapmap]
rs6580521	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6870820	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6872265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6873836	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6892205	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6895434	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6896303	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7445392	0.85[CEU][hapmap]
rs7711927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs7711953	0.93[CEU][hapmap]
rs7724165	0.93[CEU][hapmap]
rs7725816	0.82[CHB][hapmap]
rs880687	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033838	chr5:147360521-147484014	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv933225	chr5:147395849-147486560	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv883015	chr5:147404281-147751035	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv830515	chr5:147460852-147602247	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147464200-147491200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:147464400-147488800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:147469200-147481400	Weak transcription	Esophagus	oesophagus
4	chr5:147470200-147481200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:147470400-147518400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:147470600-147508400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:147470600-147509000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:147471600-147514800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr5:147472000-147505000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:147472600-147497200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr5:147474200-147513400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:147474800-147490600	Weak transcription	NHEK	skin
13	chr5:147476800-147489800	Strong transcription	Hela-S3	cervix
14	chr5:147478200-147484000	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:147478600-147481000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:147479000-147500600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:147479200-147485800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:147479200-147494200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:147479400-147480800	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr5:147480000-147482800	Strong transcription	HUES48 Cell Line	embryonic stem cell

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