Variant report

Variant	rs3751150
Chromosome Location	chr12:121442214-121442215
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:121441093-121442844	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:121441627-121442718	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:121438511-121442806	HepG2	liver:	n/a	n/a
4	POLR2A	chr12:121442182-121442217	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121441915..121444188-chr12:121446625..121449115,2	K562	blood:
2	chr12:121294043..121295007-chr12:121441383..121442308,2	MCF-7	breast:
3	chr12:121124381..121127314-chr12:121441274..121443258,2	K562	blood:
4	chr12:121437912..121440467-chr12:121441258..121443495,3	MCF-7	breast:
5	chr12:121427353..121429838-chr12:121441548..121443367,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271769	TF binding region
ENSG00000157895	Chromatin interaction
ENSG00000110917	Chromatin interaction
ENSG00000271769	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10849827	0.93[CHB][hapmap];0.90[JPT][hapmap]
rs10849833	0.82[CHB][hapmap]
rs11065386	0.93[CHB][hapmap];0.86[ASN][1000 genomes]
rs11065388	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11065390	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11065394	0.99[ASN][1000 genomes]
rs12231806	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12296113	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12309537	0.97[ASN][1000 genomes]
rs2071190	0.93[CHB][hapmap];0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs3213546	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs3751151	1.00[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs56097722	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7134141	1.00[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs7296897	0.93[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs7969063	0.87[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv899560	chr12:121371233-121560581	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv899561	chr12:121376416-121525591	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv899562	chr12:121376416-121565870	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv1037195	chr12:121408540-121470375	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv1039216	chr12:121421701-121538491	Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	nsv832531	chr12:121440495-121604232	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3751150	COQ5	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121427600-121442600	Strong transcription	Fetal Intestine Large	intestine
2	chr12:121429800-121451600	Strong transcription	Rectal Mucosa Donor 29	rectum
3	chr12:121433200-121448200	Weak transcription	Fetal Kidney	kidney
4	chr12:121436600-121452800	Weak transcription	Fetal Heart	heart
5	chr12:121436800-121442400	Weak transcription	Hela-S3	cervix
6	chr12:121437400-121442800	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:121437600-121452000	Strong transcription	Fetal Stomach	stomach
8	chr12:121437600-121453000	Weak transcription	Fetal Brain Male	brain
9	chr12:121437600-121453600	Weak transcription	Right Atrium	heart
10	chr12:121437800-121451200	Strong transcription	A549	lung
11	chr12:121438000-121442400	Strong transcription	Pancreas	Pancrea
12	chr12:121438400-121448000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr12:121438400-121451200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:121438400-121451400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:121438600-121442600	Strong transcription	Colonic Mucosa	Colon
16	chr12:121438600-121444800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:121438600-121445000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:121438600-121449000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr12:121438600-121451200	Strong transcription	Spleen	Spleen
20	chr12:121438600-121451400	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:121438600-121451400	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr12:121438600-121451600	Strong transcription	Primary T cells from cord blood	blood
23	chr12:121438600-121451800	Strong transcription	Fetal Muscle Trunk	muscle
24	chr12:121438800-121443600	Strong transcription	Esophagus	oesophagus
25	chr12:121438800-121444200	Strong transcription	Lung	lung
26	chr12:121438800-121444800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:121438800-121450200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:121438800-121450400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:121438800-121451200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:121438800-121451400	Strong transcription	Fetal Muscle Leg	muscle
31	chr12:121438800-121451600	Strong transcription	Stomach Smooth Muscle	stomach
32	chr12:121438800-121451800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:121438800-121451800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:121438800-121451800	Strong transcription	Fetal Brain Female	brain
35	chr12:121439000-121451200	Strong transcription	Brain Germinal Matrix	brain
36	chr12:121439000-121451400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr12:121439000-121451600	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr12:121439000-121451800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:121439200-121443800	Strong transcription	Brain Anterior Caudate	brain
40	chr12:121439200-121444200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:121439200-121444400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:121439200-121445200	Weak transcription	K562	blood
43	chr12:121439200-121445600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:121439200-121450400	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr12:121439200-121451600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr12:121439200-121451800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:121439400-121442600	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr12:121439400-121442800	Strong transcription	Rectal Smooth Muscle	rectum
49	chr12:121439400-121443000	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr12:121439400-121450200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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