Variant report

Variant	rs7564217
Chromosome Location	chr2:20446406-20446407
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:20446273-20446551	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr2:20442349-20447377	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr2:20443604-20447463	PFSK-1	brain:	n/a	n/a
4	MTA3	chr2:20446392-20447293	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:20446222-20446469	HCT-116	colon:	n/a	n/a
6	POLR2A	chr2:20446123-20446769	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr2:20446217-20446634	HepG2	liver:	n/a	n/a
8	POLR2A	chr2:20445954-20447423	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr2:20446236-20446594	GM12891	blood:	n/a	n/a
10	POLR2A	chr2:20446389-20446593	ProgFib	skin:	n/a	n/a
11	POLR2A	chr2:20446246-20446466	GM12878	blood:	n/a	n/a
12	POLR2A	chr2:20446184-20447290	SK-N-MC	brain:	n/a	n/a
13	POLR2A	chr2:20441943-20449974	K562	blood:	n/a	n/a
14	POLR2A	chr2:20446146-20448060	GM12892	blood:	n/a	n/a
15	POLR2A	chr2:20446096-20446569	HL-60	blood:	n/a	n/a
16	POLR2A	chr2:20446318-20449896	HepG2	liver:	n/a	n/a
17	POLR2A	chr2:20445126-20447643	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr2:20442459-20447911	GM12878	blood:	n/a	n/a
19	POLR2A	chr2:20446145-20446515	K562	blood:	n/a	n/a
20	POLR2A	chr2:20446148-20447322	GM12878	blood:	n/a	n/a
21	BCL3	chr2:20446384-20447571	A549	lung:	n/a	n/a
22	POLR2A	chr2:20445964-20447761	HCT-116	colon:	n/a	n/a
23	POLR2A	chr2:20445320-20447948	A549	lung:	n/a	n/a
24	POLR2A	chr2:20446174-20447196	K562	blood:	n/a	n/a
25	POLR2A	chr2:20446252-20446479	A549	lung:	n/a	n/a
26	BCL3	chr2:20446300-20447197	GM12878	blood:	n/a	n/a
27	POLR2A	chr2:20446230-20446440	GM12878	blood:	n/a	n/a
28	POLR2A	chr2:20445328-20447557	MCF-7	breast:	n/a	n/a
29	POLR2A	chr2:20445367-20447781	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr2:20445270-20447742	HL-60	blood:	n/a	n/a
31	POLR2A	chr2:20445266-20446613	HepG2	liver:	n/a	n/a
32	POLR2A	chr2:20446212-20447554	GM12892	blood:	n/a	n/a
33	POLR2A	chr2:20445382-20447671	GM12891	blood:	n/a	n/a
34	FOSL2	chr2:20444797-20448107	HepG2	liver:	n/a	chr2:20445625-20445634
35	POLR2A	chr2:20446244-20446473	GM12892	blood:	n/a	n/a
36	POLR2A	chr2:20446171-20446629	PANC-1	pancreas:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:20423460..20425374-chr2:20445845..20448782,3	MCF-7	breast:
2	chr2:20422608..20425941-chr2:20442995..20447318,5	MCF-7	breast:

No data

Variant related genes	Relation type
RNU7-113P	TF binding region
ENSG00000115884	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1468741	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16987553	1.00[AMR][1000 genomes]
rs4427977	1.00[AMR][1000 genomes]
rs6719085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs917903	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1819683	chr2:20423264-20455467	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20426000-20447000	Weak transcription	GM12878-XiMat	blood
2	chr2:20431400-20446800	Weak transcription	Spleen	Spleen
3	chr2:20433000-20450200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:20433000-20451200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:20436200-20446600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:20436200-20447000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:20436600-20452600	Weak transcription	Gastric	stomach
8	chr2:20437000-20447000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:20437000-20453000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:20437800-20448000	Weak transcription	HMEC	breast
11	chr2:20439400-20447200	Weak transcription	Primary B cells from cord blood	blood
12	chr2:20439800-20450200	Weak transcription	Brain Substantia Nigra	brain
13	chr2:20440600-20446600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:20440600-20447000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:20440600-20451000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:20440600-20452600	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:20440800-20452200	Weak transcription	Brain Angular Gyrus	brain
18	chr2:20440800-20452600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:20441400-20453000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:20441800-20447000	Weak transcription	Adipose Nuclei	Adipose
21	chr2:20441800-20447000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:20442000-20446800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:20442000-20446800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:20442000-20446800	Weak transcription	Lung	lung
25	chr2:20442000-20447000	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr2:20442000-20447000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr2:20442000-20447000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:20442000-20447000	Weak transcription	HUVEC	blood vessel
29	chr2:20442000-20447800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:20442000-20448800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:20442000-20449600	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:20442000-20450200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr2:20442000-20450400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr2:20442000-20450600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:20442000-20451000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:20442000-20451200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr2:20442000-20452600	Weak transcription	Fetal Heart	heart
38	chr2:20442000-20453400	Weak transcription	Pancreas	Pancrea
39	chr2:20442000-20491000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr2:20442200-20446600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr2:20442200-20446800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:20442200-20446800	Weak transcription	Esophagus	oesophagus
43	chr2:20442200-20446800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr2:20442200-20447000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr2:20442200-20447000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:20442200-20447000	Weak transcription	Colonic Mucosa	Colon
47	chr2:20442200-20447000	Weak transcription	Right Ventricle	heart
48	chr2:20442200-20447000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr2:20442200-20447200	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr2:20442200-20449000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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