Variant report

Variant	rs12160763
Chromosome Location	chr22:31794754-31794755
allele	A/G
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:11)
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	MAZ	chr22:31794656-31796116	IMR90	lung:	n/a	n/a
2	POLR2A	chr22:31794748-31796075	GM12878	blood:	n/a	n/a
3	MXI1	chr22:31794457-31796753	SK-N-SH	brain:	n/a	n/a
4	MXI1	chr22:31794739-31796450	IMR90	lung:	n/a	n/a
5	POLR2A	chr22:31794702-31796441	GM12891	blood:	n/a	n/a
6	POLR2A	chr22:31794626-31796617	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr22:31794576-31796669	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr22:31794728-31796439	K562	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31686029..31689751-chr22:31793811..31797004,3	K562	blood:
2	chr22:31739411..31743940-chr22:31792561..31797746,12	K562	blood:
3	chr22:31685604..31688964-chr22:31794244..31796594,4	MCF-7	breast:
4	chr22:31741637..31743152-chr22:31792594..31795088,2	K562	blood:
5	chr22:31784063..31789675-chr22:31793262..31796684,7	MCF-7	breast:
6	chr22:31793990..31796986-chr22:31884678..31887767,3	K562	blood:
7	chr22:31738670..31747056-chr22:31790500..31799012,36	MCF-7	breast:
8	chr22:31686927..31688705-chr22:31793727..31795655,2	K562	blood:
9	chr22:31737798..31746418-chr22:31793074..31801662,34	MCF-7	breast:
10	chr22:31793990..31795602-chr22:31885862..31887767,2	K562	blood:
11	chr22:31789927..31791884-chr22:31793432..31795429,2	K562	blood:

No data

Variant related genes	Relation type
DRG1	TF binding region
ENSG00000100100	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000206615	Chromatin interaction
ENSG00000213888	Chromatin interaction
ENSG00000228839	Chromatin interaction
ENSG00000100105	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1018488	1.00[CEU][hapmap];1.00[CHD][hapmap]
rs16989274	1.00[CHD][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs16989278	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs16989279	1.00[CEU][hapmap]
rs16989519	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989617	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.92[EUR][1000 genomes]
rs16989620	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];0.92[EUR][1000 genomes]
rs16989623	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs16989635	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];0.87[TSI][hapmap];0.96[EUR][1000 genomes]
rs16989638	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs16989650	0.96[EUR][1000 genomes]
rs16989682	1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes]
rs16989753	1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs16989760	1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[TSI][hapmap]
rs2180142	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs2229875	1.00[JPT][hapmap]
rs55806621	0.81[EUR][1000 genomes]
rs55853109	0.81[EUR][1000 genomes]
rs55997441	0.92[EUR][1000 genomes]
rs56314242	1.00[EUR][1000 genomes]
rs56385611	0.96[EUR][1000 genomes]
rs5753700	1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[TSI][hapmap]
rs60324934	0.84[EUR][1000 genomes]
rs62236168	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236170	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62236183	0.80[EUR][1000 genomes]
rs62236187	0.92[EUR][1000 genomes]
rs62236215	0.96[EUR][1000 genomes]
rs62236218	0.92[EUR][1000 genomes]
rs62236223	0.92[EUR][1000 genomes]
rs62236224	0.92[EUR][1000 genomes]
rs62236225	0.84[EUR][1000 genomes]
rs62236230	0.84[EUR][1000 genomes]
rs62236231	0.84[EUR][1000 genomes]
rs62236257	0.84[EUR][1000 genomes]
rs62237437	0.92[EUR][1000 genomes]
rs62237446	0.92[EUR][1000 genomes]
rs62237760	0.84[EUR][1000 genomes]
rs62237764	0.81[EUR][1000 genomes]
rs62237766	0.81[EUR][1000 genomes]
rs62237769	0.81[EUR][1000 genomes]
rs62239378	0.86[ASN][1000 genomes]
rs62239379	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7286496	1.00[CEU][hapmap];1.00[CHD][hapmap]
rs73158601	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73160611	0.92[EUR][1000 genomes]
rs73160614	0.92[EUR][1000 genomes]
rs73160635	0.84[EUR][1000 genomes]
rs738658	1.00[JPT][hapmap]
rs8142821	0.81[EUR][1000 genomes]
rs878654	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9680589	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][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	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv1816779	chr22:31743711-31797094	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31790800-31794800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr22:31793600-31795000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr22:31793600-31795000	Enhancers	Fetal Stomach	stomach
4	chr22:31793600-31795000	Active TSS	HepG2	liver
5	chr22:31793800-31794800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr22:31793800-31794800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr22:31793800-31795000	Enhancers	Liver	Liver
8	chr22:31793800-31795000	Enhancers	Fetal Lung	lung
9	chr22:31794000-31794800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr22:31794000-31794800	Enhancers	Fetal Kidney	kidney
11	chr22:31794000-31795000	Enhancers	Stomach Mucosa	stomach
12	chr22:31794200-31794800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr22:31794200-31794800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr22:31794200-31794800	Enhancers	Brain Germinal Matrix	brain
15	chr22:31794200-31795000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr22:31794400-31794800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr22:31794400-31794800	Enhancers	Adipose Nuclei	Adipose
18	chr22:31794400-31794800	Enhancers	Fetal Brain Male	brain
19	chr22:31794400-31794800	Enhancers	Fetal Intestine Large	intestine
20	chr22:31794400-31794800	Enhancers	Fetal Thymus	thymus
21	chr22:31794400-31794800	Enhancers	K562	blood
22	chr22:31794400-31794800	Enhancers	Osteobl	bone
23	chr22:31794400-31795000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr22:31794400-31795000	Enhancers	Fetal Muscle Leg	muscle
25	chr22:31794400-31795000	Enhancers	Hela-S3	cervix
26	chr22:31794400-31795000	Enhancers	NHDF-Ad	bronchial
27	chr22:31794400-31795000	Enhancers	NHLF	lung
28	chr22:31794600-31794800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:31794600-31794800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr22:31794600-31794800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr22:31794600-31794800	Enhancers	Primary B cells from cord blood	blood
32	chr22:31794600-31794800	Enhancers	Primary T cells from cord blood	blood
33	chr22:31794600-31794800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr22:31794600-31794800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr22:31794600-31794800	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr22:31794600-31794800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr22:31794600-31794800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr22:31794600-31794800	Enhancers	Brain Angular Gyrus	brain
39	chr22:31794600-31794800	Enhancers	Brain Hippocampus Middle	brain
40	chr22:31794600-31794800	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr22:31794600-31794800	Enhancers	Duodenum Mucosa	Duodenum
42	chr22:31794600-31794800	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr22:31794600-31794800	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr22:31794600-31794800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr22:31794600-31794800	Enhancers	A549	lung
46	chr22:31794600-31794800	Enhancers	Dnd41	blood
47	chr22:31794600-31794800	Enhancers	NHEK	skin
48	chr22:31794600-31795000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr22:31794600-31795000	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr22:31794600-31795000	Enhancers	Primary B cells from peripheral blood	blood

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