Variant report

Variant	rs1378776
Chromosome Location	chr12:64453494-64453495
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:64451854..64454168-chr12:64456396..64458094,2	K562	blood:
2	chr12:64452594..64454767-chr12:64455088..64457101,2	MCF-7	breast:
3	chr12:64451839..64454693-chr12:64459010..64460999,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17120486	1.00[EUR][1000 genomes]
rs7135387	1.00[EUR][1000 genomes]
rs7135485	1.00[EUR][1000 genomes]
rs7303224	1.00[EUR][1000 genomes]
rs7303379	1.00[EUR][1000 genomes]
rs73319374	1.00[EUR][1000 genomes]
rs789715	1.00[EUR][1000 genomes]
rs789716	1.00[EUR][1000 genomes]
rs789717	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs789718	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs789720	0.89[AMR][1000 genomes]
rs7977095	1.00[EUR][1000 genomes]
rs806070	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64418600-64456400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:64432000-64466400	Weak transcription	Pancreas	Pancrea
3	chr12:64433600-64460800	Weak transcription	Aorta	Aorta
4	chr12:64433600-64474200	Weak transcription	Left Ventricle	heart
5	chr12:64433800-64458600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:64433800-64460000	Weak transcription	NH-A	brain
7	chr12:64434000-64456600	Weak transcription	HMEC	breast
8	chr12:64434000-64458200	Weak transcription	Fetal Intestine Large	intestine
9	chr12:64434000-64481600	Weak transcription	HUVEC	blood vessel
10	chr12:64436600-64474200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:64436800-64458600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:64436800-64458600	Weak transcription	Fetal Stomach	stomach
13	chr12:64436800-64474200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:64438200-64458200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr12:64438200-64458400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr12:64440000-64458400	Weak transcription	Fetal Intestine Small	intestine
17	chr12:64440000-64479200	Weak transcription	Esophagus	oesophagus
18	chr12:64440800-64456200	Weak transcription	NHEK	skin
19	chr12:64441000-64475000	Weak transcription	Hela-S3	cervix
20	chr12:64441400-64458000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:64445200-64474200	Weak transcription	Fetal Lung	lung
22	chr12:64449000-64458600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:64449600-64453600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:64449600-64458400	Weak transcription	Ovary	ovary
25	chr12:64449800-64455600	Weak transcription	A549	lung
26	chr12:64449800-64458400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:64450000-64454400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:64450000-64456400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:64450000-64456600	Weak transcription	Fetal Heart	heart
30	chr12:64450000-64456800	Weak transcription	Fetal Kidney	kidney
31	chr12:64450000-64456800	Weak transcription	NHLF	lung
32	chr12:64450000-64458200	Weak transcription	HSMMtube	muscle
33	chr12:64450200-64455400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr12:64450200-64456400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:64450200-64458200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:64451000-64455800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:64451000-64458400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr12:64451200-64476600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:64451400-64454000	Enhancers	NHDF-Ad	bronchial
40	chr12:64451400-64458200	Weak transcription	HSMM	muscle
41	chr12:64451800-64453800	Enhancers	Brain Substantia Nigra	brain
42	chr12:64452000-64454800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:64452000-64455400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:64452400-64453600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr12:64452600-64458200	Weak transcription	Fetal Brain Female	brain
46	chr12:64452800-64453800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:64453000-64454000	Weak transcription	Brain Hippocampus Middle	brain
48	chr12:64453000-64458200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr12:64453000-64458200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:64453000-64458400	Weak transcription	Fetal Muscle Leg	muscle

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