Variant report

Variant	rs74097931
Chromosome Location	chr12:64566223-64566224
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	chr12:64564304..64566773-chr12:64570258..64571875,2	MCF-7	breast:
2	chr12:64563969..64566740-chr12:64567525..64570598,3	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs55806292	1.00[EUR][1000 genomes]
rs56691393	1.00[EUR][1000 genomes]
rs6581532	1.00[EUR][1000 genomes]
rs74097945	1.00[EUR][1000 genomes]
rs74097962	1.00[EUR][1000 genomes]
rs74097963	1.00[EUR][1000 genomes]
rs74097971	1.00[EUR][1000 genomes]
rs74100209	1.00[EUR][1000 genomes]
rs7968227	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3509287	chr12:64526217-64736995	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3509288	chr12:64526217-64736995	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64563200-64566800	Enhancers	HMEC	breast
2	chr12:64563400-64567000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:64563400-64567000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:64563400-64567200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:64563400-64567800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:64563600-64566600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr12:64563600-64566600	Enhancers	HSMM	muscle
8	chr12:64563600-64566800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr12:64563600-64567400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr12:64563600-64567600	Enhancers	NHDF-Ad	bronchial
11	chr12:64563600-64567800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:64563600-64574600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:64563800-64566600	Enhancers	HUVEC	blood vessel
14	chr12:64563800-64567600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:64563800-64567600	Enhancers	Osteobl	bone
16	chr12:64564000-64568000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:64564000-64569000	Weak transcription	Fetal Brain Male	brain
18	chr12:64564200-64569200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:64564200-64569200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:64564200-64569400	Weak transcription	Brain Angular Gyrus	brain
21	chr12:64564400-64566600	Enhancers	A549	lung
22	chr12:64564400-64568400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:64564400-64569400	Weak transcription	Brain Anterior Caudate	brain
24	chr12:64564600-64568800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:64565200-64566600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:64565400-64567800	Enhancers	Hela-S3	cervix
27	chr12:64565600-64568800	Weak transcription	Fetal Brain Female	brain
28	chr12:64565600-64570800	Weak transcription	HSMMtube	muscle
29	chr12:64565800-64570800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:64565800-64575200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:64566000-64566400	Weak transcription	NHLF	lung
32	chr12:64566000-64566800	Enhancers	NHEK	skin
33	chr12:64566000-64567200	Weak transcription	HepG2	liver
34	chr12:64566000-64568800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:64566000-64569200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:64566000-64570600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:64566000-64574800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr12:64566200-64566800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr12:64566200-64567000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr12:64566200-64570800	Weak transcription	NH-A	brain

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