Variant report

Variant	rs7977832
Chromosome Location	chr12:64575346-64575347
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:64573391..64577314-chr12:64614642..64617588,5	MCF-7	breast:
2	chr12:64237413..64238413-chr12:64575310..64576353,7	MCF-7	breast:
3	chr12:64311062..64313477-chr12:64574443..64577060,2	MCF-7	breast:
4	chr12:64236487..64240653-chr12:64573099..64577184,5	MCF-7	breast:
5	chr12:64566259..64570333-chr12:64574153..64576842,4	MCF-7	breast:
6	chr12:64561013..64563969-chr12:64574388..64576896,2	MCF-7	breast:
7	chr12:64233283..64233835-chr12:64575189..64575759,3	MCF-7	breast:
8	chr12:64569573..64573901-chr12:64574064..64577068,4	K562	blood:
9	chr12:64232788..64233929-chr12:64575209..64576068,7	MCF-7	breast:
10	chr12:64570311..64573993-chr12:64574949..64576948,3	MCF-7	breast:
11	chr12:64569573..64571749-chr12:64574064..64576693,2	K562	blood:
12	chr12:64237079..64238508-chr12:64574838..64576202,18	MCF-7	breast:
13	chr12:64574061..64575880-chr12:64614771..64616279,2	MCF-7	breast:
14	chr12:64573179..64575576-chr7:155001263..155003585,2	MCF-7	breast:
15	chr12:64575285..64577484-chr12:64581484..64584031,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000174206	Chromatin interaction
ENSG00000243024	Chromatin interaction
ENSG00000196935	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12099708	1.00[AMR][1000 genomes]
rs12299720	1.00[EUR][1000 genomes]
rs55737323	1.00[EUR][1000 genomes]
rs60438943	1.00[EUR][1000 genomes]
rs73323053	1.00[EUR][1000 genomes]
rs73323086	1.00[EUR][1000 genomes]
rs74097940	1.00[AMR][1000 genomes];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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64567800-64585600	Weak transcription	Fetal Intestine Small	intestine
2	chr12:64570200-64578400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:64570600-64576200	Enhancers	NHLF	lung
4	chr12:64570800-64575800	Enhancers	NH-A	brain
5	chr12:64571400-64575800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr12:64571800-64575600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:64572800-64575800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:64573800-64575400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:64573800-64576600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:64573800-64576600	Enhancers	HMEC	breast
11	chr12:64573800-64576600	Enhancers	HSMM	muscle
12	chr12:64573800-64576800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:64574000-64576600	Enhancers	NHEK	skin
14	chr12:64574200-64576200	Enhancers	Adipose Nuclei	Adipose
15	chr12:64574200-64576200	Enhancers	Fetal Lung	lung
16	chr12:64574400-64575400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:64574400-64575400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr12:64574400-64575600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:64574400-64576200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:64574400-64576200	Flanking Active TSS	A549	lung
21	chr12:64574400-64576400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:64574400-64576600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:64574400-64576600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:64574600-64575600	Weak transcription	Placenta	Placenta
25	chr12:64574600-64575600	Flanking Active TSS	HUVEC	blood vessel
26	chr12:64574600-64576200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr12:64574600-64587600	Weak transcription	Left Ventricle	heart
28	chr12:64574600-64597000	Weak transcription	Esophagus	oesophagus
29	chr12:64574800-64575400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:64574800-64575400	Flanking Active TSS	NHDF-Ad	bronchial
31	chr12:64574800-64575600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr12:64574800-64576000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:64574800-64576000	Enhancers	Brain Anterior Caudate	brain
34	chr12:64574800-64576200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr12:64574800-64586400	Weak transcription	Primary T cells from cord blood	blood
36	chr12:64575000-64575400	Flanking Active TSS	HSMMtube	muscle
37	chr12:64575000-64576000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:64575000-64576000	Flanking Active TSS	Hela-S3	cervix
39	chr12:64575000-64576200	Enhancers	Brain Substantia Nigra	brain
40	chr12:64575000-64576200	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr12:64575000-64576200	Flanking Active TSS	Osteobl	bone
42	chr12:64575000-64615200	Weak transcription	Psoas Muscle	Psoas
43	chr12:64575200-64575400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:64575200-64575400	Enhancers	Brain Hippocampus Middle	brain
45	chr12:64575200-64575400	Enhancers	Ovary	ovary
46	chr12:64575200-64575400	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr12:64575200-64575400	Enhancers	Spleen	Spleen
48	chr12:64575200-64575600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:64575200-64575600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:64575200-64575600	Enhancers	Brain Angular Gyrus	brain

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