Variant report

Variant	rs11182809
Chromosome Location	chr12:45443846-45443847
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:45443617-45443955	H1-hESC	embryonic stem cell:	n/a	n/a
2	SETDB1	chr12:45443668-45444110	U2OS	brain:	n/a	n/a
3	CEBPB	chr12:45443762-45443881	Hela-S3	cervix:	n/a	n/a
4	CTBP2	chr12:45443795-45445560	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD1	chr12:45443837-45444435	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:45443808-45443858	GM12891	blood:	n/a
2	chr12:45443808-45443858	HEEpiC	esophagus:	n/a
3	chr12:45443808-45443858	HRPEpiC	eye:	n/a
4	chr12:45443808-45443858	PrEC	prostate:	n/a
5	chr12:45443808-45443858	HCPEpiC	choroid plexus:	n/a
6	chr12:45443808-45443858	HPAEpiC	pulmonary alveolar:	n/a
7	chr12:45443808-45443858	GM06990	blood:	n/a
8	chr12:45443808-45443858	RPTEC	kidney:	n/a
9	chr12:45443808-45443858	IMR90	lung:	fetal
10	chr12:45443808-45443858	NT2-D1	testis:	n/a
11	chr12:45443808-45443858	K562	blood:	n/a
12	chr12:45443808-45443858	BJ	skin:	n/a
13	chr12:45443808-45443858	HRE	kidney:	n/a
14	chr12:45443808-45443858	PANC-1	pancreas:	n/a
15	chr12:45443808-45443858	CMK	blood:	n/a
16	chr12:45443808-45443858	AG04449	skin:	fetal
17	chr12:45443808-45443858	AG09309	skin:	n/a
18	chr12:45443808-45443858	AG10803	skin:	n/a
19	chr12:45443808-45443858	AG09319	gingival:	n/a
20	chr12:45443808-45443858	SAEC	small airway:	n/a
21	chr12:45443808-45443858	Caco-2	colon:	n/a
22	chr12:45443808-45443858	SKMC	muscle:	n/a
23	chr12:45443808-45443858	BE2_C	brain:	n/a
24	chr12:45443808-45443858	SK-N-MC	brain:	n/a
25	chr12:45443808-45443858	ProgFib	skin:	n/a
26	chr12:45443808-45443858	ovcar-3	ovarian:	n/a
27	chr12:45443808-45443858	NH-A	brain:	n/a
28	chr12:45443808-45443858	HUVEC	blood vessel:	n/a
29	chr12:45443808-45443858	Hepatocyte	liver:	n/a
30	chr12:45443808-45443858	NHBE	bronchial:	n/a
31	chr12:45443808-45443858	Jurkat	blood:	n/a
32	chr12:45443808-45443858	NB4	blood:	n/a
33	chr12:45443808-45443858	HCM	heart:	n/a
34	chr12:45443808-45443858	MCF10A-Er-Src	breast:	n/a
35	chr12:45443808-45443858	PFSK-1	brain:	n/a
36	chr12:45443808-45443858	HepG2	liver:	n/a
37	chr12:45443808-45443858	HRCEpiC	kidney:	n/a
38	chr12:45443808-45443858	GM12878	blood:	n/a
39	chr12:45443808-45443858	NHDF-neo	bronchial:	n/a
40	chr12:45443808-45443858	GM12892	blood:	n/a
41	chr12:45443808-45443858	GM19239	blood:	n/a
42	chr12:45443808-45443858	A549	lung:	n/a
43	chr12:45443808-45443858	MCF-7	breast:	n/a
44	chr12:45443808-45443858	HNPCEpiC	eye:	n/a
45	chr12:45443808-45443858	U87	brain:	n/a
46	chr12:45443808-45443858	HL-60	blood:	n/a
47	chr12:45443808-45443858	LNCaP	prostate:	n/a
48	chr12:45443808-45443858	ECC-1	luminal epithelium:	n/a
49	chr12:45443808-45443858	AoSMC	blood vessel:	n/a
50	chr12:45443808-45443858	Hela-S3	cervix:	n/a

No data

Variant related genes	Relation type
ENSG00000257319	TF binding region
ENSG00000257319	CpG island

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10492285	1.00[CEU][hapmap]
rs10880698	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs10880699	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs10880727	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880728	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880729	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880731	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182713	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs11182714	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap]
rs11182722	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs11182725	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs11182729	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs11182732	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs11182770	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182771	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11182772	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182785	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182789	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182790	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182791	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182792	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182793	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182796	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182808	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182812	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11534985	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs12578220	1.00[CEU][hapmap]
rs12578314	1.00[CEU][hapmap]
rs12579006	1.00[EUR][1000 genomes]
rs12580562	1.00[EUR][1000 genomes]
rs12581554	1.00[CEU][hapmap]
rs12581653	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12581852	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12581880	1.00[EUR][1000 genomes]
rs12582602	1.00[EUR][1000 genomes]
rs12829945	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17095247	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs17095441	1.00[CEU][hapmap]
rs2658976	0.81[CHB][hapmap]
rs2703049	1.00[CEU][hapmap]
rs2703052	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs2710418	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap]
rs2710424	0.81[CHB][hapmap]
rs3803172	1.00[EUR][1000 genomes]
rs3803174	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3803175	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41331147	1.00[CEU][hapmap]
rs447760	0.81[CHB][hapmap]
rs57726055	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59646766	0.81[ASN][1000 genomes]
rs7300104	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7315817	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968450	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3351644	chr12:45345597-45529449	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1045857	chr12:45351172-45468784	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv541485	chr12:45351172-45468784	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45441400-45445400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:45442400-45445000	Active TSS	Cortex derived primary cultured neurospheres	brain
3	chr12:45443000-45445600	Active TSS	Right Atrium	heart
4	chr12:45443200-45444000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
5	chr12:45443400-45444000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
6	chr12:45443400-45444200	Active TSS	Psoas Muscle	Psoas
7	chr12:45443400-45444400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
8	chr12:45443400-45445600	Active TSS	Brain Anterior Caudate	brain
9	chr12:45443400-45445600	Active TSS	Brain Cingulate Gyrus	brain
10	chr12:45443400-45445800	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr12:45443400-45446000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr12:45443600-45444000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
13	chr12:45443600-45444000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:45443600-45444000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
15	chr12:45443600-45444200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
16	chr12:45443600-45444200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
17	chr12:45443600-45445600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr12:45443600-45445800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr12:45443800-45444000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:45443800-45444000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:45443800-45444000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:45443800-45444000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:45443800-45444000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:45443800-45444000	Bivalent Enhancer	Brain Germinal Matrix	brain
25	chr12:45443800-45444000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
26	chr12:45443800-45444000	Bivalent/Poised TSS	Right Ventricle	heart
27	chr12:45443800-45444200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
28	chr12:45443800-45444200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
29	chr12:45443800-45444200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:45443800-45444200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:45443800-45444200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:45443800-45444200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
33	chr12:45443800-45444400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:45443800-45444400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
35	chr12:45443800-45444400	Active TSS	Pancreas	Pancrea
36	chr12:45443800-45445000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
37	chr12:45443800-45445400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:45443800-45445600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr12:45443800-45445600	Bivalent Enhancer	Liver	Liver
40	chr12:45443800-45445800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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