Variant report

Variant	rs4946243
Chromosome Location	chr6:117525169-117525170
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12524375	1.00[AFR][1000 genomes]
rs17078890	0.82[ASN][1000 genomes]
rs474344	0.82[ASN][1000 genomes]
rs4945575	0.82[ASN][1000 genomes]
rs4945577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4946222	0.82[ASN][1000 genomes]
rs4946223	0.82[ASN][1000 genomes]
rs4946224	0.82[ASN][1000 genomes]
rs4946225	0.82[ASN][1000 genomes]
rs4946228	0.82[ASN][1000 genomes]
rs4946229	0.82[ASN][1000 genomes]
rs4946242	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs499814	0.82[ASN][1000 genomes]
rs500686	0.82[ASN][1000 genomes]
rs501270	0.82[ASN][1000 genomes]
rs504809	0.82[ASN][1000 genomes]
rs508672	0.82[ASN][1000 genomes]
rs536114	0.82[ASN][1000 genomes]
rs544549	0.82[ASN][1000 genomes]
rs552132	0.82[ASN][1000 genomes]
rs579268	0.82[ASN][1000 genomes]
rs693248	0.82[ASN][1000 genomes]
rs783365	0.82[ASN][1000 genomes]
rs783367	0.82[ASN][1000 genomes]
rs9791230	0.82[ASN][1000 genomes]
rs9791319	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948766	chr6:117407275-117641016	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2758076	chr6:117431224-117627275	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2759465	chr6:117431224-117627275	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv830785	chr6:117448943-117627275	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2757190	chr6:117464048-117609529	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv886563	chr6:117496126-117552883	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv886564	chr6:117496126-117564654	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv886565	chr6:117496126-117579585	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv886566	chr6:117502777-117572067	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv886567	chr6:117502777-117576056	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv21051	chr6:117509122-117565572	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1022387	chr6:117509172-117562540	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv604551	chr6:117509381-117565610	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv3692912	chr6:117509381-117576121	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv604552	chr6:117510203-117564654	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv1029856	chr6:117516202-117557686	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv519937	chr6:117517870-117528651	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
18	nsv1031286	chr6:117517870-117562540	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
19	nsv604553	chr6:117517870-117564654	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117520000-117528200	Weak transcription	Right Atrium	heart
2	chr6:117521600-117526800	Weak transcription	HSMM	muscle
3	chr6:117521600-117526800	Weak transcription	HSMMtube	muscle
4	chr6:117525000-117525200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr6:117525000-117525400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:117525000-117525400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:117525000-117525400	Enhancers	Fetal Muscle Leg	muscle

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