Variant report

Variant	rs6812479
Chromosome Location	chr4:7255094-7255095
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7248341..7250372-chr4:7253151..7255642,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10022730	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10025225	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10032667	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11730548	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4234799	0.83[ASN][1000 genomes]
rs4376139	0.95[ASN][1000 genomes]
rs4527475	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4610334	0.92[ASN][1000 genomes]
rs4689669	0.88[ASN][1000 genomes]
rs6446588	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6815971	0.89[ASN][1000 genomes]
rs6841241	0.91[ASN][1000 genomes]
rs6843561	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6847479	0.88[ASN][1000 genomes]
rs7436907	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7441995	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7661994	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9291133	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv829850	chr4:7112509-7314016	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv432556	chr4:7174993-7391948	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
7	nsv878541	chr4:7211197-7341243	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
8	nsv878542	chr4:7214696-7276541	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv461198	chr4:7219933-7265635	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv593565	chr4:7219933-7265635	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv4218	chr4:7225196-7270057	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv916610	chr4:7238883-7731946	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
13	nsv461199	chr4:7253260-7270126	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	nsv593566	chr4:7253260-7270126	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7252600-7261800	Weak transcription	Fetal Brain Female	brain
2	chr4:7252600-7262400	Weak transcription	Fetal Brain Male	brain
3	chr4:7252800-7255400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr4:7252800-7255400	Bivalent Enhancer	Fetal Muscle Leg	muscle
5	chr4:7252800-7255400	Weak transcription	HSMM	muscle
6	chr4:7252800-7256800	Weak transcription	HSMMtube	muscle
7	chr4:7252800-7257800	Weak transcription	Ovary	ovary
8	chr4:7253000-7257200	Weak transcription	Psoas Muscle	Psoas
9	chr4:7253000-7265400	Weak transcription	Brain Substantia Nigra	brain
10	chr4:7253400-7256400	Weak transcription	Brain Anterior Caudate	brain
11	chr4:7253400-7256600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:7253400-7258000	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:7253600-7256200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:7253600-7256600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:7253600-7256600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr4:7253600-7258000	Weak transcription	Brain Hippocampus Middle	brain
17	chr4:7253600-7258200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr4:7253600-7258400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr4:7253800-7255200	Enhancers	Fetal Thymus	thymus
20	chr4:7253800-7256600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr4:7253800-7258200	Weak transcription	Brain Angular Gyrus	brain
22	chr4:7254000-7255200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr4:7254000-7255600	Bivalent Enhancer	Fetal Stomach	stomach
24	chr4:7254000-7256800	Weak transcription	Esophagus	oesophagus
25	chr4:7254000-7259200	Weak transcription	Spleen	Spleen
26	chr4:7254200-7258200	Enhancers	Fetal Heart	heart
27	chr4:7254400-7255200	Enhancers	Brain Germinal Matrix	brain
28	chr4:7254600-7255400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr4:7254600-7255400	Enhancers	Left Ventricle	heart
30	chr4:7254600-7255600	Enhancers	Right Atrium	heart
31	chr4:7254600-7255600	Enhancers	Right Ventricle	heart
32	chr4:7254600-7256600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr4:7254600-7258200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr4:7254800-7255600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:7254800-7258200	Weak transcription	Fetal Lung	lung

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