Variant report

Variant	rs13378081
Chromosome Location	chr12:63313207-63313208
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:63311594..63314180-chr12:63316529..63319500,2	MCF-7	breast:
2	chr12:63311342..63314534-chr12:63326945..63329620,5	MCF-7	breast:
3	chr12:63312253..63314057-chr12:63327356..63329169,2	K562	blood:
4	chr12:63312289..63315021-chr12:63318945..63321153,2	MCF-7	breast:
5	chr12:63311089..63313901-chr12:63317542..63319982,2	K562	blood:

Variant related genes	Relation type
ENSG00000111110	Chromatin interaction
ENSG00000252660	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10506468	0.81[ASN][1000 genomes]
rs13377803	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731667	0.87[ASN][1000 genomes]
rs2019497	0.95[ASN][1000 genomes]
rs36183582	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58389317	0.91[ASN][1000 genomes]
rs58869921	0.87[ASN][1000 genomes]
rs699587	0.87[ASN][1000 genomes]
rs7977184	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7977300	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3415227	chr12:63228121-63591615	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv899162	chr12:63279750-63334242	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	nsv899163	chr12:63288343-63325988	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63287800-63316400	Weak transcription	Fetal Intestine Small	intestine
2	chr12:63301200-63313400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:63301800-63313600	Weak transcription	Aorta	Aorta
4	chr12:63305000-63313400	Weak transcription	Stomach Mucosa	stomach
5	chr12:63305000-63316800	Weak transcription	Fetal Intestine Large	intestine
6	chr12:63306600-63313400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr12:63306800-63314000	Enhancers	Brain Angular Gyrus	brain
8	chr12:63307000-63313800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr12:63307000-63314000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:63307200-63314000	Enhancers	Brain Anterior Caudate	brain
11	chr12:63307800-63314400	Enhancers	Brain Hippocampus Middle	brain
12	chr12:63308000-63313600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr12:63308200-63315600	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr12:63308400-63313600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr12:63308600-63313600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr12:63308600-63315800	Enhancers	Brain Substantia Nigra	brain
17	chr12:63308800-63313400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:63309400-63313400	Enhancers	Brain Cingulate Gyrus	brain
19	chr12:63309600-63313400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:63309600-63313400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:63309600-63313400	Weak transcription	Pancreas	Pancrea
22	chr12:63309600-63323400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr12:63310000-63313400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:63310200-63313600	Weak transcription	HepG2	liver
25	chr12:63311000-63318000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr12:63311200-63313400	Weak transcription	Left Ventricle	heart
27	chr12:63311600-63314200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:63312000-63313400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:63312000-63325000	Weak transcription	K562	blood
30	chr12:63312200-63313400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:63312200-63313400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr12:63312200-63313400	Weak transcription	HSMMtube	muscle
33	chr12:63312200-63313600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:63312200-63313600	Weak transcription	Osteobl	bone
35	chr12:63312200-63316000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:63312400-63314000	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr12:63312600-63313600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr12:63312800-63313800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr12:63312800-63314000	Enhancers	HSMM	muscle
40	chr12:63313000-63314000	Enhancers	Brain Germinal Matrix	brain
41	chr12:63313000-63314200	Enhancers	Fetal Muscle Leg	muscle
42	chr12:63313000-63314200	Enhancers	Ovary	ovary
43	chr12:63313200-63313600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr12:63313200-63313800	Enhancers	H1 Cell Line	embryonic stem cell
45	chr12:63313200-63316400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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