Variant report

Variant	rs56267727
Chromosome Location	chr12:62995437-62995438
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:62995037-63001628	GM12891	blood:	n/a	n/a
2	POLR2A	chr12:62995429-62998294	GM12892	blood:	n/a	n/a
3	POLR2A	chr12:62995061-62995549	HUVEC	blood vessel:	n/a	n/a
4	TBL1XR1	chr12:62995164-62997236	K562	blood:	n/a	n/a
5	POLR2A	chr12:62995424-63002267	U87	brain:	n/a	n/a
6	POLR2A	chr12:62994904-62995878	GM12892	blood:	n/a	n/a
7	POLR2A	chr12:62995066-62998870	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr12:62995424-63002364	U87	brain:	n/a	n/a
9	POLR2A	chr12:62994973-62998416	HepG2	liver:	n/a	n/a
10	POLR2A	chr12:62995022-62999169	IMR90	lung:	n/a	n/a
11	CHD1	chr12:62995117-62999801	IMR90	lung:	n/a	n/a
12	FOXA2	chr12:62995298-62996039	HepG2	liver:	n/a	n/a
13	POLR2A	chr12:62995208-63001924	MCF10A-Er-Src	breast:	n/a	n/a
14	FOSL2	chr12:62995432-62998975	A549	lung:	n/a	chr12:62997693-62997702
15	POLR2A	chr12:62994755-63002267	GM12878	blood:	n/a	n/a
16	POLR2A	chr12:62995027-62999211	GM12878	blood:	n/a	n/a
17	POLR2A	chr12:62994959-62997944	ECC-1	luminal epithelium:	n/a	n/a
18	ELK1	chr12:62995295-62995506	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:62975484..62979404-chr12:62993353..62996237,5	K562	blood:
2	chr12:62995343..62997102-chr12:63326865..63328948,2	K562	blood:
3	chr12:62970868..62972406-chr12:62995221..62998178,3	MCF-7	breast:
4	chr12:62978537..62982109-chr12:62993246..62999032,10	MCF-7	breast:
5	chr12:62978077..62985603-chr12:62994484..62999339,10	MCF-7	breast:
6	chr12:62995008..63000778-chr12:63178750..63184772,7	MCF-7	breast:
7	chr12:62983638..62988242-chr12:62993831..62996165,4	K562	blood:
8	chr12:62994712..62998388-chr12:63040223..63045301,6	K562	blood:
9	chr12:62995127..63000683-chr12:63174450..63183073,15	MCF-7	breast:
10	chr12:62916495..62918610-chr12:62994074..62996393,2	MCF-7	breast:
11	chr12:62975073..62982220-chr12:62994233..63000379,9	K562	blood:
12	chr12:62993913..62996501-chr9:136325777..136327480,2	MCF-7	breast:
13	chr12:62859264..62862504-chr12:62994446..62997723,4	K562	blood:

No data

Variant related genes	Relation type
MIRLET7I	TF binding region
ENSG00000257354	TF binding region
ENSG00000160325	Chromatin interaction
ENSG00000111110	Chromatin interaction
ENSG00000061987	Chromatin interaction
ENSG00000238475	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11174637	1.00[EUR][1000 genomes]
rs11174638	1.00[EUR][1000 genomes]
rs11174639	1.00[EUR][1000 genomes]
rs12303297	1.00[EUR][1000 genomes]
rs12303313	1.00[EUR][1000 genomes]
rs12310630	1.00[EUR][1000 genomes]
rs12311698	1.00[EUR][1000 genomes]
rs58310965	1.00[EUR][1000 genomes]
rs58490000	1.00[EUR][1000 genomes]
rs61116922	1.00[EUR][1000 genomes]
rs7311838	1.00[EUR][1000 genomes]
rs74096889	1.00[EUR][1000 genomes]
rs74098826	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	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv821671	chr12:62794304-63007964	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62928800-62995800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:62950400-62995600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:62950600-62996200	Weak transcription	Small Intestine	intestine
4	chr12:62951000-62995600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:62951200-62995600	Weak transcription	HSMMtube	muscle
6	chr12:62953400-62996000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:62954800-62995600	Weak transcription	Brain Anterior Caudate	brain
8	chr12:62955600-62995600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:62957000-62995600	Weak transcription	Fetal Brain Male	brain
10	chr12:62957200-62995600	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:62959600-62995600	Weak transcription	NHLF	lung
12	chr12:62961200-62995600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:62961400-62995600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:62961400-62995600	Weak transcription	Brain Germinal Matrix	brain
15	chr12:62961600-62995600	Weak transcription	Fetal Brain Female	brain
16	chr12:62961800-62995600	Weak transcription	Brain Substantia Nigra	brain
17	chr12:62962000-62995600	Weak transcription	HMEC	breast
18	chr12:62963200-62995600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:62964000-62995800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr12:62966200-62995600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:62966200-62995600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:62966400-62995600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:62966400-62995600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:62966600-62995600	Weak transcription	Thymus	Thymus
25	chr12:62966600-62996000	Weak transcription	Esophagus	oesophagus
26	chr12:62969000-62995600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:62969000-62996000	Weak transcription	Left Ventricle	heart
28	chr12:62969000-62996000	Weak transcription	Ovary	ovary
29	chr12:62978200-62995600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:62979200-62995600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:62980000-62995600	Weak transcription	Primary T cells from cord blood	blood
32	chr12:62980000-62995600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr12:62981000-62995600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:62981600-62996000	Weak transcription	Aorta	Aorta
35	chr12:62982000-62995600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:62983000-62995600	Weak transcription	Fetal Thymus	thymus
37	chr12:62983200-62995600	Weak transcription	NH-A	brain
38	chr12:62983600-62995600	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr12:62984200-62995600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:62984200-62996000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr12:62984600-62995600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr12:62984600-62995600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr12:62984800-62995600	Weak transcription	Fetal Stomach	stomach
44	chr12:62984800-62996000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:62985200-62995600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr12:62985200-62995600	Weak transcription	Fetal Muscle Leg	muscle
47	chr12:62985400-62995600	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr12:62986600-62995600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:62986600-62995600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr12:62986800-62995600	Weak transcription	Placenta	Placenta

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