Variant report

Variant	rs61945887
Chromosome Location	chr12:120973732-120973733
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:120973548-120973897	GM12878	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120727107..120731318-chr12:120971335..120975286,11	K562	blood:
2	chr12:120931985..120935585-chr12:120970035..120974742,8	MCF-7	breast:
3	chr12:120882042..120885526-chr12:120971268..120975128,6	K562	blood:
4	chr12:120932857..120935871-chr12:120969535..120974885,9	K562	blood:
5	chr12:120874999..120877444-chr12:120972685..120975166,2	K562	blood:
6	chr12:120964646..120969249-chr12:120969286..120973951,11	MCF-7	breast:
7	chr12:120971743..120974059-chr12:121017467..121020168,3	MCF-7	breast:
8	chr12:120972451..120974167-chr19:10764022..10766297,2	K562	blood:
9	chr12:120729269..120732334-chr12:120971435..120974602,3	K562	blood:
10	chr12:120728052..120732322-chr12:120971723..120974902,6	MCF-7	breast:
11	chr12:120925184..120926895-chr12:120973583..120975847,2	K562	blood:
12	chr12:120973210..120975541-chr12:121135063..121137387,2	K562	blood:
13	chr12:120905762..120908724-chr12:120970875..120974820,5	MCF-7	breast:

No data

Variant related genes	Relation type
COQ5	TF binding region
ENSG00000088986	Chromatin interaction
ENSG00000267100	Chromatin interaction
ENSG00000129351	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000256364	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000167272	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000111780	Chromatin interaction
ENSG00000111775	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000202538	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs500003	0.97[ASN][1000 genomes]
rs529961	1.00[ASN][1000 genomes]
rs567696	0.91[ASN][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	esv3324282	chr12:120971394-120973942	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
2	nsv906	chr12:120973683-121018441	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61945887	POP5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120971200-120973800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:120971400-120974000	Active TSS	Duodenum Mucosa	Duodenum
3	chr12:120971800-120973800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:120971800-120973800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:120971800-120973800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:120971800-120973800	Active TSS	Fetal Muscle Trunk	muscle
7	chr12:120971800-120973800	Active TSS	Psoas Muscle	Psoas
8	chr12:120971800-120973800	Active TSS	NHLF	lung
9	chr12:120971800-120974000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr12:120971800-120974000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:120971800-120974000	Active TSS	Colonic Mucosa	Colon
12	chr12:120971800-120974000	Active TSS	Left Ventricle	heart
13	chr12:120971800-120974000	Active TSS	Ovary	ovary
14	chr12:120971800-120974000	Active TSS	Right Ventricle	heart
15	chr12:120971800-120974000	Active TSS	GM12878-XiMat	blood
16	chr12:120971800-120974200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:120971800-120974200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr12:120971800-120974200	Active TSS	Stomach Mucosa	stomach
19	chr12:120971800-120974200	Active TSS	HSMMtube	muscle
20	chr12:120971800-120974400	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr12:120971800-120974400	Active TSS	Right Atrium	heart
22	chr12:120971800-120974600	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr12:120972000-120973800	Active TSS	H1 Cell Line	embryonic stem cell
24	chr12:120972000-120973800	Active TSS	H9 Cell Line	embryonic stem cell
25	chr12:120972000-120974600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:120972000-120974800	Active TSS	Pancreas	Pancrea
27	chr12:120972000-120975000	Active TSS	Esophagus	oesophagus
28	chr12:120972000-120975000	Active TSS	Gastric	stomach
29	chr12:120972200-120973800	Active TSS	Aorta	Aorta
30	chr12:120972200-120974000	Active TSS	Lung	lung
31	chr12:120972200-120974200	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr12:120972800-120974200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr12:120972800-120975000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr12:120972800-120975600	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr12:120972800-120977400	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr12:120972800-120977600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:120973000-120973800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:120973000-120973800	Flanking Active TSS	Fetal Brain Female	brain
39	chr12:120973000-120974000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr12:120973000-120974000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr12:120973000-120974200	Flanking Active TSS	NH-A	brain
42	chr12:120973000-120974400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:120973000-120974400	Flanking Active TSS	Fetal Thymus	thymus
44	chr12:120973000-120974600	Flanking Active TSS	Fetal Brain Male	brain
45	chr12:120973000-120974600	Flanking Active TSS	HMEC	breast
46	chr12:120973000-120974800	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr12:120973000-120974800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:120973000-120975000	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr12:120973000-120975000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr12:120973000-120975200	Flanking Active TSS	Liver	Liver

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