Variant report

Variant	rs17684740
Chromosome Location	chr5:126720415-126720416
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10491250	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs10519935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519949	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11241930	1.00[CEU][hapmap]
rs11745840	1.00[CEU][hapmap];0.92[GIH][hapmap]
rs12109001	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12654455	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1363384	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1363386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1501993	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1529468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164854	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17164922	1.00[CEU][hapmap]
rs17164923	1.00[CEU][hapmap];0.85[GIH][hapmap]
rs17164951	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17164957	1.00[CEU][hapmap]
rs17165013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17165018	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17165019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17684525	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs17684644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17684655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17684679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17684691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17684775	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17685202	1.00[CEU][hapmap]
rs17763126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17763172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1990954	1.00[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[ASN][1000 genomes]
rs1990955	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2042941	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2042942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2042943	1.00[ASN][1000 genomes]
rs2270933	1.00[CEU][hapmap];0.92[GIH][hapmap]
rs3851468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs41298316	0.93[ASN][1000 genomes]
rs56157640	0.93[ASN][1000 genomes]
rs60681812	0.93[ASN][1000 genomes]
rs60998265	0.93[ASN][1000 genomes]
rs6595773	1.00[CEU][hapmap]
rs6865700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6866275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6873921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6874260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6877383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6883445	1.00[CEU][hapmap]
rs6897163	1.00[CEU][hapmap];0.92[GIH][hapmap]
rs73346906	0.80[ASN][1000 genomes]
rs73348744	0.93[ASN][1000 genomes]
rs7715710	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7737871	1.00[CEU][hapmap];0.92[GIH][hapmap]
rs929781	1.00[CEU][hapmap];0.93[ASN][1000 genomes]
rs929782	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]

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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1032587	chr5:126691103-126826978	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr5:126691000-126746000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:126707800-126725400	Weak transcription	Brain Angular Gyrus	brain
3	chr5:126707800-126729000	Weak transcription	Brain Substantia Nigra	brain
4	chr5:126707800-126731600	Weak transcription	Brain Anterior Caudate	brain
5	chr5:126710000-126721800	Weak transcription	HSMM	muscle
6	chr5:126710000-126731800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:126710200-126741200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:126711800-126724800	Weak transcription	Brain Hippocampus Middle	brain
9	chr5:126712800-126734200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:126714800-126732200	Weak transcription	HSMMtube	muscle
11	chr5:126715200-126731600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:126720000-126721400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:126720000-126732400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr5:126720000-126732400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:126720000-126742000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:126720200-126720600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr5:126720200-126720800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:126720200-126721000	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:126720200-126721400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:126720400-126720800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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