Variant report

Variant	rs7714258
Chromosome Location	chr5:111672235-111672236
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10061207	1.00[JPT][hapmap]
rs10062045	1.00[JPT][hapmap]
rs10071986	1.00[JPT][hapmap]
rs10072705	1.00[CHB][hapmap]
rs10077774	1.00[JPT][hapmap]
rs10079307	1.00[JPT][hapmap]
rs10463433	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs10515444	1.00[JPT][hapmap]
rs11241160	0.86[EUR][1000 genomes]
rs12187589	0.85[EUR][1000 genomes]
rs12187787	0.87[CEU][hapmap]
rs12187850	0.93[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13354699	1.00[JPT][hapmap]
rs1524425	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs1554624	0.93[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17134319	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs17134321	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17134327	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs17134335	0.84[ASN][1000 genomes]
rs17134348	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs17134357	0.84[ASN][1000 genomes]
rs17134381	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17134382	1.00[JPT][hapmap]
rs17134423	1.00[JPT][hapmap]
rs17134426	1.00[JPT][hapmap]
rs17134429	1.00[JPT][hapmap]
rs17271934	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs17345175	0.86[CEU][hapmap]
rs1896620	0.99[EUR][1000 genomes]
rs1896621	0.98[EUR][1000 genomes]
rs2416285	1.00[JPT][hapmap]
rs388383	1.00[JPT][hapmap]
rs3985058	1.00[JPT][hapmap]
rs448714	1.00[JPT][hapmap]
rs55637388	0.85[EUR][1000 genomes]
rs55639430	0.85[EUR][1000 genomes]
rs55796748	0.85[EUR][1000 genomes]
rs55845736	0.86[EUR][1000 genomes]
rs56018262	0.85[ASN][1000 genomes]
rs56108405	0.85[EUR][1000 genomes]
rs56293447	0.95[EUR][1000 genomes]
rs56307310	0.85[EUR][1000 genomes]
rs57004301	0.85[ASN][1000 genomes]
rs57211830	0.85[ASN][1000 genomes]
rs57428532	0.85[EUR][1000 genomes]
rs57778181	0.85[ASN][1000 genomes]
rs60021992	0.85[ASN][1000 genomes]
rs60193147	0.85[ASN][1000 genomes]
rs60730910	0.85[ASN][1000 genomes]
rs60806157	0.85[ASN][1000 genomes]
rs60836718	0.85[ASN][1000 genomes]
rs61061658	0.99[EUR][1000 genomes]
rs6594588	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs6594590	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs66521031	0.84[EUR][1000 genomes]
rs66892745	0.85[EUR][1000 genomes]
rs67033649	0.85[EUR][1000 genomes]
rs67586008	0.85[EUR][1000 genomes]
rs6860627	0.86[YRI][hapmap]
rs6865715	1.00[JPT][hapmap]
rs6867914	1.00[JPT][hapmap]
rs6875349	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6878117	0.81[CEU][hapmap]
rs6879906	1.00[JPT][hapmap]
rs6883585	1.00[JPT][hapmap]
rs6883800	1.00[JPT][hapmap]
rs6884339	1.00[JPT][hapmap]
rs6891512	1.00[JPT][hapmap]
rs6893840	1.00[JPT][hapmap]
rs6894036	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs6894358	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6894365	1.00[JPT][hapmap]
rs72781655	0.85[EUR][1000 genomes]
rs72781664	0.85[EUR][1000 genomes]
rs72781668	0.85[EUR][1000 genomes]
rs72781676	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72781677	0.85[EUR][1000 genomes]
rs72781678	0.85[EUR][1000 genomes]
rs72783609	0.85[EUR][1000 genomes]
rs7703875	0.92[ASN][1000 genomes]
rs7707028	1.00[JPT][hapmap]
rs7716246	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7716394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7718321	0.82[YRI][hapmap]
rs7722291	0.95[EUR][1000 genomes]
rs7723364	0.92[ASN][1000 genomes]
rs7733415	1.00[JPT][hapmap]
rs7736305	1.00[JPT][hapmap]
rs7737622	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs821736	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs821738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs821739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs821746	0.93[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs821749	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs821750	0.85[ASN][1000 genomes]
rs986797	1.00[JPT][hapmap]
rs9885390	1.00[JPT][hapmap]
rs999243	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv599371	chr5:111519018-111676755	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1021530	chr5:111626266-111683317	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1028181	chr5:111628901-111683317	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv882714	chr5:111655382-111807579	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv462386	chr5:111667572-111699317	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv599372	chr5:111667572-111699317	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111637400-111684600	Weak transcription	Aorta	Aorta
2	chr5:111653200-111674000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:111665400-111674600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:111665600-111674000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:111667200-111674000	Weak transcription	Esophagus	oesophagus
6	chr5:111669200-111672400	Enhancers	Right Atrium	heart
7	chr5:111669400-111673600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:111669400-111673600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:111669400-111674200	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:111669400-111674400	Enhancers	Fetal Heart	heart
11	chr5:111669400-111676000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:111669400-111678000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:111669600-111674000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr5:111669600-111674000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr5:111669600-111674200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:111669600-111674200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:111669600-111674200	Weak transcription	Adipose Nuclei	Adipose
18	chr5:111669600-111674200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr5:111669600-111674400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:111669600-111677800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr5:111669800-111673200	Weak transcription	Right Ventricle	heart
22	chr5:111669800-111673600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:111669800-111673600	Weak transcription	Pancreas	Pancrea
24	chr5:111669800-111673800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:111669800-111674000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr5:111669800-111674200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:111669800-111674200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr5:111669800-111674200	Weak transcription	Brain Substantia Nigra	brain
29	chr5:111669800-111674400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:111669800-111674400	Weak transcription	Fetal Lung	lung
31	chr5:111669800-111683600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:111670000-111672600	Weak transcription	Fetal Brain Female	brain
33	chr5:111670000-111675800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr5:111670600-111673600	Weak transcription	HUVEC	blood vessel
35	chr5:111670600-111673800	Enhancers	Hela-S3	cervix
36	chr5:111671000-111673600	Weak transcription	Psoas Muscle	Psoas
37	chr5:111671200-111674200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr5:111671800-111674400	Weak transcription	Gastric	stomach
39	chr5:111672000-111672400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:111672200-111672400	Enhancers	Lung	lung
41	chr5:111672200-111673600	Weak transcription	Left Ventricle	heart

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