Variant report

Variant	rs56206744
Chromosome Location	chr12:64458485-64458486
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:64454473..64456244-chr12:64457740..64459402,3	MCF-7	breast:
2	chr12:64457445..64460088-chr12:64464526..64467430,4	MCF-7	breast:
3	chr12:64458292..64460448-chr12:64462143..64463996,2	MCF-7	breast:
4	chr12:64457354..64459870-chr12:64569304..64571189,2	MCF-7	breast:
5	chr12:64438262..64440681-chr12:64457474..64460651,3	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11175203	1.00[ASN][1000 genomes]
rs11175204	1.00[ASN][1000 genomes]
rs55965024	1.00[ASN][1000 genomes]
rs61933087	1.00[ASN][1000 genomes]
rs61933088	1.00[ASN][1000 genomes]
rs61933089	1.00[ASN][1000 genomes]
rs61933090	1.00[ASN][1000 genomes]
rs61933092	1.00[ASN][1000 genomes]
rs61935958	1.00[ASN][1000 genomes]
rs61937060	1.00[ASN][1000 genomes]
rs61937062	1.00[ASN][1000 genomes]
rs61937063	1.00[ASN][1000 genomes]
rs61937064	1.00[ASN][1000 genomes]
rs61937065	1.00[ASN][1000 genomes]
rs61937066	1.00[ASN][1000 genomes]
rs73113978	1.00[ASN][1000 genomes]
rs73126646	1.00[ASN][1000 genomes]
rs73313480	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64432000-64466400	Weak transcription	Pancreas	Pancrea
2	chr12:64433600-64460800	Weak transcription	Aorta	Aorta
3	chr12:64433600-64474200	Weak transcription	Left Ventricle	heart
4	chr12:64433800-64458600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:64433800-64460000	Weak transcription	NH-A	brain
6	chr12:64434000-64481600	Weak transcription	HUVEC	blood vessel
7	chr12:64436600-64474200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:64436800-64458600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:64436800-64458600	Weak transcription	Fetal Stomach	stomach
10	chr12:64436800-64474200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr12:64440000-64479200	Weak transcription	Esophagus	oesophagus
12	chr12:64441000-64475000	Weak transcription	Hela-S3	cervix
13	chr12:64445200-64474200	Weak transcription	Fetal Lung	lung
14	chr12:64449000-64458600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:64451200-64476600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:64453000-64458600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:64453000-64458600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:64453000-64458600	Weak transcription	Fetal Brain Male	brain
19	chr12:64453000-64465400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:64453000-64476600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:64453200-64461600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:64453400-64467000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:64453600-64472800	Weak transcription	Brain Anterior Caudate	brain
24	chr12:64453800-64473600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:64453800-64476600	Weak transcription	Brain Substantia Nigra	brain
26	chr12:64454000-64459800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:64454800-64476600	Weak transcription	Brain Hippocampus Middle	brain
28	chr12:64455000-64474200	Weak transcription	Colon Smooth Muscle	Colon
29	chr12:64455200-64481600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:64455400-64461000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:64456000-64459800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:64456400-64461200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:64456600-64459200	Strong transcription	Osteobl	bone
34	chr12:64457000-64458600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:64457000-64460800	Strong transcription	HMEC	breast
36	chr12:64457000-64462600	Weak transcription	Spleen	Spleen
37	chr12:64457000-64510600	Weak transcription	HepG2	liver
38	chr12:64457200-64460000	Weak transcription	Fetal Kidney	kidney
39	chr12:64457600-64465200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:64457600-64472600	Weak transcription	Lung	lung
41	chr12:64457800-64459000	Strong transcription	NHDF-Ad	bronchial
42	chr12:64457800-64474000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:64457800-64474400	Weak transcription	Small Intestine	intestine
44	chr12:64458000-64459000	Strong transcription	NHLF	lung
45	chr12:64458000-64461200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:64458200-64459000	Strong transcription	Fetal Intestine Large	intestine
47	chr12:64458200-64459000	Enhancers	HSMMtube	muscle
48	chr12:64458200-64459800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:64458200-64460000	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr12:64458200-64460200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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