Variant report

Variant	rs60014612
Chromosome Location	chr12:12593977-12593978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12590405..12593794-chr12:12593958..12596387,3	MCF-7	breast:
2	chr12:12593955..12596511-chr12:12738215..12739887,2	MCF-7	breast:
3	chr12:12591338..12594027-chr12:12713055..12715643,2	K562	blood:
4	chr12:12586894..12590134-chr12:12591817..12594282,3	K562	blood:
5	chr12:12586017..12588316-chr12:12590751..12594080,4	MCF-7	breast:
6	chr12:12584022..12586208-chr12:12592875..12596434,3	MCF-7	breast:
7	chr12:12588163..12590134-chr12:12591817..12594282,2	K562	blood:

Variant related genes	Relation type
ENSG00000111266	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11834653	1.00[AMR][1000 genomes]
rs11835141	1.00[AMR][1000 genomes]
rs11835684	1.00[AMR][1000 genomes]
rs59272770	1.00[AMR][1000 genomes]
rs60117219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60402543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61082937	1.00[AMR][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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12582600-12595000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:12582600-12599400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr12:12582800-12596400	Weak transcription	Spleen	Spleen
4	chr12:12583000-12594000	Weak transcription	HSMMtube	muscle
5	chr12:12584000-12598600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:12585600-12595200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:12585800-12595400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:12586000-12594200	Weak transcription	Hela-S3	cervix
9	chr12:12586000-12595000	Weak transcription	Adipose Nuclei	Adipose
10	chr12:12586200-12595000	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:12586200-12595400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:12586600-12594200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr12:12586800-12594000	Weak transcription	Right Ventricle	heart
14	chr12:12587000-12594800	Weak transcription	Aorta	Aorta
15	chr12:12587000-12594800	Weak transcription	Esophagus	oesophagus
16	chr12:12587000-12594800	Weak transcription	Placenta	Placenta
17	chr12:12587200-12594000	Weak transcription	Brain Angular Gyrus	brain
18	chr12:12587200-12594000	Weak transcription	Lung	lung
19	chr12:12587200-12594000	Weak transcription	Psoas Muscle	Psoas
20	chr12:12587200-12594200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr12:12587200-12595200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:12587200-12596400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr12:12587200-12596400	Weak transcription	Gastric	stomach
24	chr12:12587400-12594000	Weak transcription	Brain Anterior Caudate	brain
25	chr12:12587400-12594200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:12587400-12594800	Weak transcription	NHLF	lung
27	chr12:12587400-12595000	Weak transcription	NHDF-Ad	bronchial
28	chr12:12587400-12595400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:12587400-12595400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr12:12587400-12595800	Weak transcription	Fetal Stomach	stomach
31	chr12:12587400-12600200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:12587400-12600200	Weak transcription	Ovary	ovary
33	chr12:12588000-12594200	Weak transcription	Fetal Intestine Large	intestine
34	chr12:12588000-12595800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:12588400-12594000	Weak transcription	Brain Substantia Nigra	brain
36	chr12:12588400-12595400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr12:12588600-12599400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:12588800-12594000	Weak transcription	Left Ventricle	heart
39	chr12:12588800-12594000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr12:12589200-12594800	Weak transcription	Brain Hippocampus Middle	brain
41	chr12:12589400-12595600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:12589600-12594200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr12:12589600-12594200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr12:12589800-12594000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr12:12589800-12594000	Weak transcription	HSMM	muscle
46	chr12:12589800-12607200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:12590000-12599400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr12:12590200-12594800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:12590400-12594400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr12:12590400-12599200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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