Variant report

Variant	rs12311001
Chromosome Location	chr12:51445470-51445471
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:51445449-51445978	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:51440271..51447226-chr12:51475135..51479930,16	MCF-7	breast:
2	chr12:51440782..51445752-chr12:51631445..51635429,5	MCF-7	breast:
3	chr12:51444294..51447069-chr12:51453786..51456012,3	MCF-7	breast:
4	chr12:51440852..51445521-chr12:51475730..51478507,6	MCF-7	breast:

Variant related genes	Relation type
LETMD1	TF binding region
ENSG00000110925	Chromatin interaction
ENSG00000183283	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10082984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169699	1.00[AMR][1000 genomes]
rs12297361	1.00[AMR][1000 genomes]
rs12304202	1.00[AMR][1000 genomes]
rs12304653	1.00[AMR][1000 genomes]
rs12305543	1.00[AMR][1000 genomes]
rs12307922	1.00[AMR][1000 genomes]
rs12312957	1.00[AMR][1000 genomes]
rs12316887	1.00[AMR][1000 genomes]
rs12317077	1.00[AMR][1000 genomes]
rs12317980	1.00[AMR][1000 genomes]
rs12318042	1.00[AMR][1000 genomes]
rs12318187	1.00[AMR][1000 genomes]
rs12318936	1.00[AMR][1000 genomes]
rs17216086	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51442800-51448200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:51442800-51449000	Weak transcription	Aorta	Aorta
3	chr12:51442800-51449800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:51442800-51450000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:51442800-51452800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:51442800-51470200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:51443000-51445600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:51443000-51447000	Weak transcription	Lung	lung
9	chr12:51443000-51448200	Weak transcription	Gastric	stomach
10	chr12:51443000-51453200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:51443200-51447200	Weak transcription	Ovary	ovary
12	chr12:51443200-51447600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:51443200-51449600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:51443400-51445600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:51443400-51445600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:51443400-51445600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:51443400-51445600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr12:51443400-51445600	Weak transcription	Brain Substantia Nigra	brain
19	chr12:51443400-51445600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:51443400-51445600	Weak transcription	HSMMtube	muscle
21	chr12:51443400-51445800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:51443400-51447000	Weak transcription	Spleen	Spleen
23	chr12:51443400-51447200	Weak transcription	Pancreas	Pancrea
24	chr12:51443400-51447400	Weak transcription	HSMM	muscle
25	chr12:51443400-51447600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr12:51443400-51448200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:51443400-51448200	Weak transcription	Esophagus	oesophagus
28	chr12:51443400-51449200	Weak transcription	Right Ventricle	heart
29	chr12:51443400-51452600	Weak transcription	Stomach Mucosa	stomach
30	chr12:51443400-51476000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr12:51443600-51445600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr12:51443600-51445600	Weak transcription	Primary T cells from cord blood	blood
33	chr12:51443600-51445600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr12:51443600-51445600	Weak transcription	Adipose Nuclei	Adipose
35	chr12:51443600-51445600	Weak transcription	Brain Anterior Caudate	brain
36	chr12:51443600-51445600	Weak transcription	Brain Germinal Matrix	brain
37	chr12:51443600-51445600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr12:51443600-51445600	Weak transcription	Fetal Kidney	kidney
39	chr12:51443600-51445600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr12:51443600-51445600	Weak transcription	Thymus	Thymus
41	chr12:51443600-51445600	Weak transcription	NH-A	brain
42	chr12:51443600-51445600	Weak transcription	Osteobl	bone
43	chr12:51443600-51447000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr12:51443600-51447200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr12:51443600-51447400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr12:51443600-51447400	Weak transcription	Primary B cells from cord blood	blood
47	chr12:51443600-51447600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr12:51443600-51447800	Weak transcription	Brain Angular Gyrus	brain
49	chr12:51443600-51448600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr12:51443600-51451600	Weak transcription	Colonic Mucosa	Colon

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