Variant report

Variant	rs62495011
Chromosome Location	chr7:152596060-152596061
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:152588507..152591156-chr7:152595233..152597420,2	K562	blood:
2	chr7:152595309..152597143-chr7:153102901..153104884,2	K562	blood:
3	chr7:152595615..152597304-chr7:152598757..152600318,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10225841	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10231499	0.89[ASN][1000 genomes]
rs10247318	0.89[ASN][1000 genomes]
rs10248126	0.89[ASN][1000 genomes]
rs10252415	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10256342	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10257281	0.89[ASN][1000 genomes]
rs10261713	0.89[ASN][1000 genomes]
rs12534990	0.89[ASN][1000 genomes]
rs1976876	0.89[ASN][1000 genomes]
rs36009810	0.88[ASN][1000 genomes]
rs3929596	0.89[ASN][1000 genomes]
rs4236441	0.92[ASN][1000 genomes]
rs4576342	0.89[ASN][1000 genomes]
rs4726220	0.89[ASN][1000 genomes]
rs5013634	0.89[ASN][1000 genomes]
rs5013635	0.89[ASN][1000 genomes]
rs5013637	0.88[ASN][1000 genomes]
rs5013639	0.88[ASN][1000 genomes]
rs55658987	0.89[ASN][1000 genomes]
rs56296501	0.97[ASN][1000 genomes]
rs56729346	0.89[ASN][1000 genomes]
rs57747418	0.89[ASN][1000 genomes]
rs58588589	0.89[ASN][1000 genomes]
rs59178052	0.89[ASN][1000 genomes]
rs59653945	0.83[ASN][1000 genomes]
rs61106470	0.88[ASN][1000 genomes]
rs61701723	0.89[ASN][1000 genomes]
rs61702476	0.89[ASN][1000 genomes]
rs62495012	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6943923	0.83[ASN][1000 genomes]
rs6949453	0.89[ASN][1000 genomes]
rs6962281	0.83[ASN][1000 genomes]
rs6969450	0.89[ASN][1000 genomes]
rs6974930	0.89[ASN][1000 genomes]
rs6977071	0.89[ASN][1000 genomes]
rs6977246	0.89[ASN][1000 genomes]
rs6977266	0.89[ASN][1000 genomes]
rs6977433	0.89[ASN][1000 genomes]
rs73477109	0.89[ASN][1000 genomes]
rs73477118	0.89[ASN][1000 genomes]
rs73728877	0.89[ASN][1000 genomes]
rs73728880	0.89[ASN][1000 genomes]
rs7795581	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7799142	0.89[ASN][1000 genomes]
rs7799736	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033496	chr7:152125903-152615617	Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv539208	chr7:152125903-152615617	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv1027100	chr7:152294734-152935140	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv532221	chr7:152371297-152884547	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv868873	chr7:152371297-152900113	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv532222	chr7:152504090-153450290	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv889506	chr7:152521953-152631037	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1019335	chr7:152546243-152676615	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv539209	chr7:152546243-152676615	Weak transcription Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv6008	chr7:152563270-152597257	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv1034937	chr7:152566162-152854895	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv3493688	chr7:152574705-152651559	Genic enhancers Weak transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv3493689	chr7:152574764-152651511	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv429823	chr7:152589802-152616099	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv1015392	chr7:152593010-152748797	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv1021031	chr7:152593010-152751220	ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv465229	chr7:152595852-152607732	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv465230	chr7:152595852-152607732	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv609070	chr7:152595852-152607732	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv889507	chr7:152595852-152620372	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv889508	chr7:152595852-152626132	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152586400-152611400	Weak transcription	Right Atrium	heart
2	chr7:152592200-152597000	Weak transcription	Fetal Brain Male	brain
3	chr7:152593600-152598200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:152595000-152596400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr7:152595400-152598000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr7:152595600-152597600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:152595600-152600400	Enhancers	Fetal Muscle Leg	muscle
8	chr7:152595800-152597000	Weak transcription	Left Ventricle	heart
9	chr7:152595800-152597200	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr7:152596000-152596200	Enhancers	Esophagus	oesophagus
11	chr7:152596000-152596200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr7:152596000-152596400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
13	chr7:152596000-152596400	Enhancers	Liver	Liver
14	chr7:152596000-152596400	Enhancers	Psoas Muscle	Psoas
15	chr7:152596000-152596600	Enhancers	HepG2	liver
16	chr7:152596000-152598000	Enhancers	Pancreas	Pancrea

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