Variant report

Variant	rs12310717
Chromosome Location	chr12:51564459-51564460
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51474365..51478814-chr12:51563597..51568148,9	K562	blood:
2	chr12:51564447..51569582-chr12:51630930..51635335,8	K562	blood:
3	chr12:51557800..51560128-chr12:51563372..51565944,2	K562	blood:
4	chr12:51563450..51568971-chr12:51609008..51613972,14	K562	blood:
5	chr12:51557800..51560550-chr12:51563372..51565178,2	K562	blood:
6	chr12:51562048..51564499-chr12:51565072..51568119,4	K562	blood:
7	chr12:51474365..51480004-chr12:51564069..51568503,12	K562	blood:
8	chr12:51564257..51569582-chr12:51630930..51636873,13	K562	blood:

No data

Variant related genes	Relation type
ENSG00000183283	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000184271	Chromatin interaction
ENSG00000135457	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10876158	1.00[EUR][1000 genomes]
rs11169748	0.88[AFR][1000 genomes]
rs11169753	1.00[EUR][1000 genomes]
rs12297981	1.00[EUR][1000 genomes]
rs12304834	1.00[EUR][1000 genomes]
rs12310188	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12321105	1.00[EUR][1000 genomes]
rs2359600	1.00[EUR][1000 genomes]
rs2359601	1.00[EUR][1000 genomes]
rs2359602	1.00[EUR][1000 genomes]
rs3951439	1.00[EUR][1000 genomes]
rs57341229	1.00[EUR][1000 genomes]
rs6580825	1.00[EUR][1000 genomes]
rs7134300	1.00[EUR][1000 genomes]
rs7134437	1.00[EUR][1000 genomes]
rs7134808	1.00[EUR][1000 genomes]
rs7138157	1.00[EUR][1000 genomes]
rs7297398	1.00[EUR][1000 genomes]
rs7301520	1.00[EUR][1000 genomes]
rs7342309	1.00[EUR][1000 genomes]
rs7486830	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7486892	1.00[EUR][1000 genomes]
rs7488776	1.00[EUR][1000 genomes]
rs7971653	1.00[EUR][1000 genomes]
rs7979358	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7980682	1.00[EUR][1000 genomes]
rs7980927	1.00[EUR][1000 genomes]
rs9804923	1.00[EUR][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	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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51513000-51565400	Weak transcription	Fetal Lung	lung
2	chr12:51519000-51565000	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:51519000-51565200	Weak transcription	Left Ventricle	heart
4	chr12:51519000-51565200	Weak transcription	Pancreas	Pancrea
5	chr12:51519000-51565800	Weak transcription	Esophagus	oesophagus
6	chr12:51519200-51565000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:51519400-51565200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:51521600-51565200	Weak transcription	HSMM	muscle
9	chr12:51527400-51565200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:51532000-51565000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:51532600-51564800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:51532600-51565200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:51533200-51564800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:51533600-51564800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:51533600-51565000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:51539600-51565000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr12:51540800-51564800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr12:51543200-51565200	Weak transcription	Psoas Muscle	Psoas
19	chr12:51545000-51565000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:51545000-51565000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:51550400-51565400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:51550800-51564800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:51552400-51565000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr12:51553200-51565000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:51554400-51565000	Weak transcription	HUVEC	blood vessel
26	chr12:51554800-51564800	Weak transcription	Brain Angular Gyrus	brain
27	chr12:51554800-51565000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:51554800-51565000	Weak transcription	NHLF	lung
29	chr12:51554800-51565200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:51554800-51565400	Weak transcription	Brain Anterior Caudate	brain
31	chr12:51555000-51564600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:51555000-51564800	Weak transcription	Brain Hippocampus Middle	brain
33	chr12:51555200-51564600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr12:51555200-51564800	Weak transcription	A549	lung
35	chr12:51555200-51565000	Weak transcription	Brain Substantia Nigra	brain
36	chr12:51555400-51564600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:51555400-51565200	Weak transcription	Thymus	Thymus
38	chr12:51556000-51565200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:51556400-51564800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr12:51557000-51565000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:51557200-51565000	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr12:51559000-51565000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:51559400-51565000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr12:51560400-51565200	Weak transcription	Lung	lung
45	chr12:51560600-51565000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr12:51560600-51565000	Weak transcription	NHEK	skin
47	chr12:51560600-51565200	Weak transcription	Right Ventricle	heart
48	chr12:51560600-51565600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:51560600-51565600	Weak transcription	Gastric	stomach
50	chr12:51561000-51565200	Weak transcription	Right Atrium	heart

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