Variant report

Variant	rs73977677
Chromosome Location	chr2:178493966-178493967
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	chr2:178493836..178495394-chr2:178504667..178506617,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16865476	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4555380	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6712307	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977672	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977679	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977684	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977685	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977693	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977698	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977699	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979509	1.00[AMR][1000 genomes]
rs73979510	1.00[AMR][1000 genomes]
rs73979511	1.00[AMR][1000 genomes]
rs7559596	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7575717	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh 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	14 gene(s)	inside rSNPs	diseases
3	nsv583688	chr2:178427640-178540293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv583689	chr2:178468008-178509820	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv819130	chr2:178493720-178494177	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178484000-178499200	Weak transcription	Pancreas	Pancrea
2	chr2:178488000-178498800	Weak transcription	Fetal Kidney	kidney
3	chr2:178491000-178494600	Weak transcription	HepG2	liver
4	chr2:178491400-178494400	Weak transcription	Fetal Brain Female	brain
5	chr2:178491400-178496400	Weak transcription	K562	blood
6	chr2:178491400-178498400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:178491400-178498800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:178491800-178494200	Weak transcription	Fetal Brain Male	brain
9	chr2:178493200-178494000	Enhancers	Brain Substantia Nigra	brain
10	chr2:178493200-178498800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:178493400-178494200	Enhancers	Brain Cingulate Gyrus	brain
12	chr2:178493400-178494400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:178493600-178494000	Enhancers	GM12878-XiMat	blood
14	chr2:178493600-178494200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:178493800-178494200	Enhancers	Brain Angular Gyrus	brain
16	chr2:178493800-178494200	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr2:178493800-178494200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr2:178493800-178494200	Enhancers	Left Ventricle	heart
19	chr2:178493800-178494400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:178493800-178494400	Enhancers	Brain Germinal Matrix	brain
21	chr2:178493800-178494400	Enhancers	Brain Hippocampus Middle	brain
22	chr2:178493800-178494800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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