Variant report

Variant	rs11051517
Chromosome Location	chr12:31813133-31813134
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:31812997-31813299	ProgFib	skin:	n/a	n/a
2	CTCF	chr12:31813100-31813250	RPTEC	kidney:	n/a	n/a
3	MXI1	chr12:31811434-31813575	SK-N-SH	brain:	n/a	n/a
4	TBL1XR1	chr12:31813077-31813262	K562	blood:	n/a	n/a
5	GTF3C2	chr12:31812430-31813329	Hela-S3	cervix:	n/a	n/a
6	ZNF384	chr12:31812809-31813214	GM12878	blood:	n/a	n/a
7	ZNF384	chr12:31811474-31813422	K562	blood:	n/a	n/a
8	CTCF	chr12:31813100-31813250	NHLF	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:31476939..31478876-chr12:31810425..31813843,3	MCF-7	breast:
2	chr12:31812410..31814271-chr12:31879800..31882059,2	MCF-7	breast:
3	chr12:31811076..31814149-chr12:31866420..31869336,3	K562	blood:
4	chr12:31812744..31814749-chr12:31824204..31825895,2	MCF-7	breast:

No data

Variant related genes	Relation type
METTL20	TF binding region
ENSG00000151743	Chromatin interaction
ENSG00000139146	Chromatin interaction
ENSG00000177340	Chromatin interaction
ENSG00000266482	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10843992	1.00[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs11051514	1.00[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs11051515	1.00[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs11051516	1.00[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs11051519	0.89[ASN][1000 genomes]
rs11051521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11051522	1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11051527	0.85[ASN][1000 genomes]
rs11051534	0.85[ASN][1000 genomes]
rs11051535	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11051536	0.87[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs11051538	0.91[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs11051540	0.87[CHB][hapmap];0.83[CHD][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs11051546	0.87[AMR][1000 genomes]
rs11051547	0.87[CHB][hapmap];0.85[CHD][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes]
rs11051551	0.87[CHB][hapmap]
rs12231666	0.87[CHB][hapmap];0.85[CHD][hapmap];0.87[JPT][hapmap]
rs4931536	0.87[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs4931538	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4931545	0.82[ASN][1000 genomes]
rs4931546	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4931547	0.81[ASN][1000 genomes]
rs61561194	0.96[ASN][1000 genomes]
rs7308889	0.83[ASN][1000 genomes]
rs7316528	0.96[ASN][1000 genomes]
rs7955365	0.98[ASN][1000 genomes]
rs7959989	0.84[AMR][1000 genomes];0.91[ASN][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	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv898966	chr12:31810126-31944985	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31811200-31813200	Active TSS	Brain Hippocampus Middle	brain
2	chr12:31811200-31813200	Active TSS	Stomach Mucosa	stomach
3	chr12:31811200-31813400	Active TSS	Brain Anterior Caudate	brain
4	chr12:31811200-31813400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:31811200-31813400	Active TSS	Stomach Smooth Muscle	stomach
6	chr12:31811200-31813600	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr12:31811400-31813200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr12:31811400-31813200	Active TSS	Muscle Satellite Cultured Cells	--
9	chr12:31811400-31813200	Active TSS	Brain Angular Gyrus	brain
10	chr12:31811400-31813200	Active TSS	Brain Cingulate Gyrus	brain
11	chr12:31811400-31813200	Active TSS	Brain Substantia Nigra	brain
12	chr12:31811400-31813200	Active TSS	Rectal Smooth Muscle	rectum
13	chr12:31811400-31813400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:31811400-31813400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:31811400-31813400	Active TSS	Aorta	Aorta
16	chr12:31811400-31813400	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr12:31811400-31813400	Active TSS	Left Ventricle	heart
18	chr12:31811400-31813400	Active TSS	Right Atrium	heart
19	chr12:31811400-31813600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:31811400-31813800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:31811600-31813200	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr12:31811600-31813200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:31811600-31813200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:31811600-31813200	Active TSS	Colonic Mucosa	Colon
25	chr12:31811600-31813200	Active TSS	Fetal Intestine Large	intestine
26	chr12:31811600-31813200	Active TSS	Psoas Muscle	Psoas
27	chr12:31811600-31813400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:31811600-31813400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:31811600-31813400	Active TSS	Pancreas	Pancrea
30	chr12:31811600-31813400	Active TSS	Right Ventricle	heart
31	chr12:31811800-31813200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:31811800-31813200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:31811800-31813200	Active TSS	Adipose Nuclei	Adipose
34	chr12:31811800-31813200	Active TSS	Liver	Liver
35	chr12:31811800-31813200	Active TSS	Colon Smooth Muscle	Colon
36	chr12:31811800-31813200	Active TSS	Esophagus	oesophagus
37	chr12:31811800-31813200	Active TSS	Fetal Intestine Small	intestine
38	chr12:31811800-31813200	Active TSS	Fetal Kidney	kidney
39	chr12:31811800-31813200	Active TSS	Fetal Muscle Leg	muscle
40	chr12:31811800-31813200	Active TSS	Placenta	Placenta
41	chr12:31811800-31813200	Active TSS	Fetal Stomach	stomach
42	chr12:31811800-31813200	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr12:31811800-31813200	Active TSS	Hela-S3	cervix
44	chr12:31811800-31813200	Active TSS	HMEC	breast
45	chr12:31811800-31813200	Active TSS	HSMM	muscle
46	chr12:31811800-31813200	Active TSS	Osteobl	bone
47	chr12:31811800-31813400	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr12:31811800-31813400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:31811800-31813400	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr12:31811800-31813400	Active TSS	Duodenum Mucosa	Duodenum

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