Variant report

Variant	rs4724648
Chromosome Location	chr7:47870375-47870376
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C7orf69-2	chr7:47870175-47872414	NONHSAT120520

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11765736	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11769398	0.86[JPT][hapmap]
rs12668946	0.89[CEU][hapmap];0.84[CHB][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12673502	1.00[CEU][hapmap];0.84[CHB][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17545564	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.80[TSI][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17627961	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17659868	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.81[GIH][hapmap];0.93[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17659956	0.80[CHD][hapmap]
rs17710874	1.00[CHB][hapmap];0.86[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17710880	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2123609	0.89[CEU][hapmap];0.84[CHB][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2290386	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2348460	0.91[JPT][hapmap]
rs2348462	0.84[CHB][hapmap];0.94[CHD][hapmap];0.80[ASN][1000 genomes]
rs4724650	1.00[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6951478	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6959021	0.89[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73692834	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9639988	0.88[CEU][hapmap];0.83[CHB][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[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	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv830991	chr7:47854530-48025996	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47852800-47879000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:47855000-47880200	Weak transcription	Lung	lung
3	chr7:47855800-47902400	Weak transcription	Adipose Nuclei	Adipose
4	chr7:47865600-47871000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr7:47866400-47870600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr7:47867200-47871200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:47867200-47886000	Weak transcription	Right Atrium	heart
8	chr7:47867800-47886000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr7:47868200-47872600	Weak transcription	Fetal Heart	heart
10	chr7:47868200-47872600	Weak transcription	Right Ventricle	heart
11	chr7:47868200-47874400	Weak transcription	Brain Germinal Matrix	brain
12	chr7:47868200-47876800	Weak transcription	Left Ventricle	heart
13	chr7:47868600-47870800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:47868600-47873400	Weak transcription	Fetal Stomach	stomach
15	chr7:47868600-47879200	Weak transcription	Pancreas	Pancrea
16	chr7:47868800-47886000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr7:47869600-47870400	Enhancers	Liver	Liver
18	chr7:47869800-47873200	Weak transcription	Spleen	Spleen
19	chr7:47869800-47885400	Weak transcription	HSMMtube	muscle
20	chr7:47870000-47875600	Weak transcription	Fetal Muscle Leg	muscle
21	chr7:47870000-47880200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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