Variant report

Variant	rs6461230
Chromosome Location	chr7:16242151-16242152
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:33)

rs_ID	r²[population]
rs10232023	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10267017	0.84[EUR][1000 genomes]
rs10950605	0.85[EUR][1000 genomes]
rs1113569	0.83[EUR][1000 genomes]
rs11761915	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12216621	0.84[EUR][1000 genomes]
rs12668400	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12670694	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12672856	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12699772	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12699773	0.82[EUR][1000 genomes]
rs1295166	0.84[EUR][1000 genomes]
rs1295169	0.84[EUR][1000 genomes]
rs1295172	0.83[EUR][1000 genomes]
rs1295174	0.82[EUR][1000 genomes]
rs13245605	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1589987	0.82[EUR][1000 genomes]
rs17169323	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1918265	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34458550	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34915294	0.83[EUR][1000 genomes]
rs35978678	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4719461	0.83[EUR][1000 genomes]
rs4721478	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4721480	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6461229	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6947755	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6956587	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71540739	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7790551	0.82[EUR][1000 genomes]
rs7794107	0.84[EUR][1000 genomes]
rs7801673	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7807183	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv949555	chr7:16078412-16279290	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1035015	chr7:16144928-16273061	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1847175	chr7:16155335-16272661	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv948950	chr7:16168925-16395434	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv887738	chr7:16211553-16284139	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv887739	chr7:16216494-16284139	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv887740	chr7:16216494-16286261	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv887741	chr7:16216494-16300179	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1030704	chr7:16236162-16271197	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	esv2757214	chr7:16236162-16334228	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	esv2759514	chr7:16236162-16527390	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16234800-16244000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:16239000-16244000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr7:16239800-16244200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:16240200-16242200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:16241200-16243200	Enhancers	HUVEC	blood vessel
6	chr7:16241400-16244000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:16241400-16244000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:16241400-16256400	Weak transcription	Left Ventricle	heart
9	chr7:16241600-16244400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr7:16242000-16242200	Enhancers	Fetal Heart	heart
11	chr7:16242000-16243200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:16242000-16243400	Enhancers	HMEC	breast
13	chr7:16242000-16243400	Enhancers	NHEK	skin

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