Variant report

Variant	rs12318370
Chromosome Location	chr12:50904941-50904942
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50897433..50902148-chr12:50902725..50909458,9	K562	blood:
2	chr12:50897433..50901052-chr12:50902725..50905248,4	K562	blood:
3	chr12:50897723..50903128-chr12:50904714..50906914,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000066084	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11169454	0.92[AFR][1000 genomes]
rs11169459	1.00[AFR][1000 genomes]
rs11169466	0.81[AFR][1000 genomes]
rs11169467	1.00[AFR][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	esv1820967	chr12:50856613-51002088	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50900000-50911000	Weak transcription	Colonic Mucosa	Colon
2	chr12:50900000-50911800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:50900000-50925400	Weak transcription	Esophagus	oesophagus
4	chr12:50900200-50906800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:50900200-50911200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:50900400-50910000	Weak transcription	Fetal Stomach	stomach
7	chr12:50900600-50916400	Enhancers	Primary B cells from peripheral blood	blood
8	chr12:50900600-50932000	Weak transcription	Fetal Kidney	kidney
9	chr12:50900800-50908600	Weak transcription	Right Ventricle	heart
10	chr12:50900800-50911200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:50901000-50907000	Weak transcription	Ovary	ovary
12	chr12:50901000-50910800	Weak transcription	HUVEC	blood vessel
13	chr12:50901000-50911000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:50901200-50905000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:50901200-50905400	Enhancers	Primary T cells fromperipheralblood	blood
16	chr12:50901400-50925600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:50901600-50915600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:50901800-50905400	Enhancers	Liver	Liver
19	chr12:50901800-50911000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:50902000-50905000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:50902000-50905000	Enhancers	Brain Substantia Nigra	brain
22	chr12:50902000-50909200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:50902200-50911200	Weak transcription	Dnd41	blood
24	chr12:50902400-50911000	Weak transcription	Fetal Lung	lung
25	chr12:50902600-50911200	Weak transcription	Fetal Brain Male	brain
26	chr12:50902800-50907400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:50902800-50908000	Weak transcription	Lung	lung
28	chr12:50902800-50912000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr12:50903200-50905000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr12:50903200-50905000	Enhancers	HepG2	liver
31	chr12:50903200-50906400	Weak transcription	Pancreas	Pancrea
32	chr12:50903200-50911200	Weak transcription	Colon Smooth Muscle	Colon
33	chr12:50903400-50905000	Enhancers	Brain Hippocampus Middle	brain
34	chr12:50903400-50906200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr12:50903400-50906800	Enhancers	Primary B cells from cord blood	blood
36	chr12:50903400-50908000	Weak transcription	Thymus	Thymus
37	chr12:50903400-50908200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr12:50903400-50908400	Weak transcription	Left Ventricle	heart
39	chr12:50903400-50910200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr12:50903400-50925800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr12:50903600-50906400	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr12:50903600-50906600	Weak transcription	Spleen	Spleen
43	chr12:50903600-50907000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr12:50903600-50907000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:50903600-50907400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr12:50903600-50908000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:50903600-50908200	Weak transcription	Fetal Thymus	thymus
48	chr12:50903600-50908200	Weak transcription	Small Intestine	intestine
49	chr12:50903600-50908400	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr12:50903600-50908400	Weak transcription	Adipose Nuclei	Adipose

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