Variant report

Variant	rs12312855
Chromosome Location	chr12:46951980-46951981
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46750618..46753866-chr12:46950440..46953586,3	K562	blood:
2	chr12:46949570..46952238-chr12:47068920..47070785,2	K562	blood:
3	chr12:46777594..46781632-chr12:46950708..46954410,5	K562	blood:
4	chr12:46947119..46948871-chr12:46950791..46952995,2	K562	blood:
5	chr12:46940433..46942462-chr12:46951225..46953881,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257496	Chromatin interaction
ENSG00000257261	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12303554	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs12311251	0.81[AFR][1000 genomes]
rs12316118	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs12320872	0.90[AFR][1000 genomes]
rs12321947	0.81[AFR][1000 genomes]
rs61571554	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases
5	esv3402095	chr12:46937340-46983181	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46940200-46955000	Enhancers	HMEC	breast
2	chr12:46940600-46953600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:46941400-46956200	Weak transcription	Primary B cells from cord blood	blood
4	chr12:46947200-46956000	Weak transcription	Left Ventricle	heart
5	chr12:46948200-46952400	Enhancers	Adipose Nuclei	Adipose
6	chr12:46948600-46954200	Enhancers	Colon Smooth Muscle	Colon
7	chr12:46949000-46954000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:46949000-46954000	Weak transcription	Aorta	Aorta
9	chr12:46949400-46954400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr12:46950000-46952200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr12:46950000-46952200	Enhancers	HSMM	muscle
12	chr12:46950000-46952600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:46950000-46953600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:46950000-46953600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:46950000-46953800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:46950000-46954000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:46950000-46954800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:46950000-46955400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:46950000-46956600	Enhancers	Hela-S3	cervix
20	chr12:46950000-46957400	Enhancers	Osteobl	bone
21	chr12:46950200-46952800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr12:46950200-46953200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:46950200-46953600	Weak transcription	HepG2	liver
24	chr12:46950400-46953800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:46950400-46953800	Weak transcription	Fetal Heart	heart
26	chr12:46950400-46954000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:46950400-46955400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr12:46950600-46952000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr12:46950800-46952800	Enhancers	K562	blood
30	chr12:46950800-46953600	Enhancers	HSMMtube	muscle
31	chr12:46950800-46954400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:46950800-46957800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:46951000-46953600	Weak transcription	Fetal Stomach	stomach
34	chr12:46951000-46956400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:46951200-46952200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr12:46951200-46952200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr12:46951200-46952400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:46951200-46954400	Enhancers	NHDF-Ad	bronchial
39	chr12:46951200-46956000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:46951200-46956200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr12:46951400-46952200	Enhancers	NHEK	skin
42	chr12:46951400-46954400	Enhancers	NHLF	lung
43	chr12:46951400-46954600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:46951400-46955000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:46951400-46955400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:46951600-46953200	Weak transcription	A549	lung
47	chr12:46951600-46954000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:46951600-46954800	Weak transcription	HUVEC	blood vessel
49	chr12:46951800-46952000	Enhancers	Fetal Lung	lung
50	chr12:46951800-46952000	Enhancers	Psoas Muscle	Psoas

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