Variant report

Variant	rs73678964
Chromosome Location	chr7:13060257-13060258
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:13053595..13056376-chr7:13057496..13060584,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11973913	0.89[AFR][1000 genomes]
rs11980133	0.89[AFR][1000 genomes]
rs11980293	0.89[AFR][1000 genomes]
rs11981386	0.89[AFR][1000 genomes]
rs55807394	0.89[AFR][1000 genomes]
rs55998412	1.00[AFR][1000 genomes]
rs59807510	0.89[AFR][1000 genomes]
rs60038254	0.89[AFR][1000 genomes]
rs60149324	0.89[AFR][1000 genomes]
rs60506597	0.89[AFR][1000 genomes]
rs6961047	0.89[AFR][1000 genomes]
rs73678951	0.89[AFR][1000 genomes]
rs73678952	0.89[AFR][1000 genomes]
rs73678954	0.89[AFR][1000 genomes]
rs73678955	0.89[AFR][1000 genomes]
rs73678958	0.89[AFR][1000 genomes]
rs73678960	1.00[AFR][1000 genomes]
rs73678962	1.00[AFR][1000 genomes]
rs73678963	0.89[AFR][1000 genomes]
rs73678966	1.00[AFR][1000 genomes]
rs73678967	0.90[AFR][1000 genomes]
rs73678968	0.81[AFR][1000 genomes]
rs73678969	1.00[AFR][1000 genomes]
rs73678970	1.00[AFR][1000 genomes]
rs73678973	0.89[AFR][1000 genomes]
rs73678974	0.89[AFR][1000 genomes]
rs7787922	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv606235	chr7:12781381-13205950	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1020568	chr7:12802640-13183737	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv464384	chr7:12907178-13077065	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv606238	chr7:12907178-13077065	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1029771	chr7:12927648-13153855	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv538736	chr7:12927648-13153855	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1026624	chr7:12963907-13123408	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv887642	chr7:12973609-13067198	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13055400-13061000	Weak transcription	Fetal Brain Male	brain
2	chr7:13057400-13061200	Weak transcription	Fetal Lung	lung
3	chr7:13057400-13061600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:13057600-13061000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:13057600-13061200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:13057600-13062000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:13057800-13060800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:13057800-13061000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:13057800-13061000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:13057800-13061200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:13057800-13061600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:13057800-13062800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:13058000-13061400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:13058800-13061200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:13059000-13060400	Weak transcription	HepG2	liver
16	chr7:13059000-13061200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:13059000-13061600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:13059000-13068000	Weak transcription	A549	lung
19	chr7:13059200-13060800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:13059600-13064200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:13059800-13060600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:13059800-13061200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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