Variant report

Variant	rs2180932
Chromosome Location	chr6:53977292-53977293
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12213850	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[EUR][1000 genomes]
rs17635304	0.85[CHB][hapmap]
rs28460442	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4712057	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067663	chr6:53796341-54449718	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529158	chr6:53796341-54449718	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv2758055	chr6:53839373-53996093	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv2759431	chr6:53839373-54007349	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv603110	chr6:53885918-54103794	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv7901	chr6:53914491-53981080	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv823691	chr6:53918427-53978766	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv885885	chr6:53920024-54046264	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv34853	chr6:53924697-53977449	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1017633	chr6:53935336-54118476	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv2757169	chr6:53951857-54007349	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv885886	chr6:53956877-54009067	Enhancers Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv885887	chr6:53961784-54046264	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53972800-53989400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:53974400-53977400	Enhancers	Fetal Heart	heart
3	chr6:53975800-53977400	Enhancers	Fetal Brain Male	brain
4	chr6:53976000-53977400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr6:53976000-53977600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:53976200-53977400	Enhancers	Brain Hippocampus Middle	brain
7	chr6:53976200-53977400	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr6:53976200-53977600	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr6:53976200-53977800	Flanking Active TSS	HUVEC	blood vessel
10	chr6:53976200-53978000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr6:53976200-53980400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr6:53976400-53977400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:53976400-53977600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:53976800-53977400	Active TSS	Fetal Brain Female	brain
15	chr6:53976800-53978600	Weak transcription	Psoas Muscle	Psoas
16	chr6:53976800-53978800	Weak transcription	Right Ventricle	heart
17	chr6:53976800-53989200	Weak transcription	Left Ventricle	heart
18	chr6:53977200-53978200	Weak transcription	HSMM	muscle
19	chr6:53977200-53979800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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