Variant report

Variant	rs17141249
Chromosome Location	chr7:117986607-117986608
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10487393	0.82[ASN][1000 genomes]
rs10487394	0.82[ASN][1000 genomes]
rs10487395	0.82[ASN][1000 genomes]
rs16870200	0.97[ASN][1000 genomes]
rs17140886	1.00[AFR][1000 genomes]
rs17141102	0.82[ASN][1000 genomes]
rs17141104	0.82[ASN][1000 genomes]
rs17141125	0.82[ASN][1000 genomes]
rs17141126	0.82[ASN][1000 genomes]
rs17141127	0.82[ASN][1000 genomes]
rs17141146	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs17141150	0.82[ASN][1000 genomes]
rs17141165	0.82[ASN][1000 genomes]
rs17141173	0.82[ASN][1000 genomes]
rs17141175	0.82[ASN][1000 genomes]
rs17141184	0.92[ASN][1000 genomes]
rs17141188	0.92[ASN][1000 genomes]
rs17141201	0.92[ASN][1000 genomes]
rs17141207	0.87[ASN][1000 genomes]
rs17141209	0.82[ASN][1000 genomes]
rs17141223	0.97[ASN][1000 genomes]
rs17141225	0.92[ASN][1000 genomes]
rs17141228	0.97[ASN][1000 genomes]
rs17141230	0.97[ASN][1000 genomes]
rs17141232	0.95[ASN][1000 genomes]
rs17141240	0.97[ASN][1000 genomes]
rs17141242	0.97[ASN][1000 genomes]
rs2057684	0.82[ASN][1000 genomes]
rs2057685	0.82[ASN][1000 genomes]
rs2109858	0.82[ASN][1000 genomes]
rs34551547	0.82[ASN][1000 genomes]
rs3757798	0.82[ASN][1000 genomes]
rs3944132	0.92[ASN][1000 genomes]
rs4526305	0.92[ASN][1000 genomes]
rs4727863	0.97[ASN][1000 genomes]
rs4727864	0.97[ASN][1000 genomes]
rs4730841	0.82[ASN][1000 genomes]
rs4730842	0.92[ASN][1000 genomes]
rs4730843	0.92[ASN][1000 genomes]
rs4730844	0.92[ASN][1000 genomes]
rs4730845	0.92[ASN][1000 genomes]
rs4730846	0.92[ASN][1000 genomes]
rs4730847	1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs55759859	0.82[ASN][1000 genomes]
rs6961495	0.82[ASN][1000 genomes]
rs6972068	0.82[ASN][1000 genomes]
rs7786481	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869971	chr7:117420583-118274149	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv889090	chr7:117865940-118067460	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1029103	chr7:117917362-118035987	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2764014	chr7:117917374-118035999	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv608262	chr7:117926753-118036133	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv429805	chr7:117940049-118026049	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv1804964	chr7:117960973-118188573	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv1803022	chr7:117970170-117998574	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
9	nsv608263	chr7:117973445-118058927	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv889092	chr7:117977091-118067460	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv889093	chr7:117977091-118709754	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv889094	chr7:117981820-118186543	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv966731	chr7:117985186-117987623	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117964400-117986800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:117986000-117987800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr7:117986200-117987200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:117986200-117987200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:117986200-117987800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:117986600-117987200	Enhancers	HUES64 Cell Line	embryonic stem cell

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