Variant report

Variant	rs55837260
Chromosome Location	chr8:2075714-2075715
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:155)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:155 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr8:2075626-2076004	GM12878	blood:	n/a	n/a
2	HCFC1	chr8:2075215-2075937	K562	blood:	n/a	n/a
3	USF1	chr8:2075360-2075796	HepG2	liver:	n/a	n/a
4	IRF4	chr8:2075292-2075849	GM12878	blood:	n/a	n/a
5	CREB1	chr8:2075628-2075998	HepG2	liver:	n/a	n/a
6	JUND	chr8:2075449-2075766	HepG2	liver:	n/a	n/a
7	CCNT2	chr8:2075352-2075850	K562	blood:	n/a	n/a
8	POLR2A	chr8:2075170-2075980	GM10847	blood:	n/a	n/a
9	NRF1	chr8:2075586-2075842	K562	blood:	n/a	n/a
10	CREB1	chr8:2075630-2076002	HepG2	liver:	n/a	n/a
11	YY1	chr8:2075665-2075872	K562	blood:	n/a	n/a
12	TBL1XR1	chr8:2075637-2075966	K562	blood:	n/a	n/a
13	HMGN3	chr8:2075406-2075825	K562	blood:	n/a	n/a
14	NRF1	chr8:2075051-2076064	SK-N-SH	brain:	n/a	n/a
15	FOSL2	chr8:2075331-2075821	HepG2	liver:	n/a	n/a
16	POLR2A	chr8:2074899-2075997	U87	brain:	n/a	n/a
17	POLR2A	chr8:2075683-2076020	U87	brain:	n/a	n/a
18	POLR2A	chr8:2074836-2076001	GM19193	blood:	n/a	n/a
19	NR3C1	chr8:2075173-2075869	A549	lung:	n/a	n/a
20	TBP	chr8:2075212-2075871	K562	blood:	n/a	n/a
21	CREB1	chr8:2075629-2076013	K562	blood:	n/a	n/a
22	SP1	chr8:2075289-2075956	GM12878	blood:	n/a	chr8:2075304-2075318
23	POLR2A	chr8:2075178-2075907	GM12891	blood:	n/a	n/a
24	JUND	chr8:2074936-2075972	K562	blood:	n/a	chr8:2074977-2074985 chr8:2074976-2074987
25	HEY1	chr8:2075239-2075899	K562	blood:	n/a	n/a
26	MAZ	chr8:2075634-2076170	IMR90	lung:	n/a	n/a
27	POLR2A	chr8:2075692-2075999	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr8:2075212-2075876	A549	lung:	n/a	n/a
29	USF1	chr8:2075204-2075961	A549	lung:	n/a	n/a
30	FOXA2	chr8:2075171-2075965	A549	lung:	n/a	chr8:2075855-2075867 chr8:2075851-2075863
31	CREB1	chr8:2075626-2076075	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr8:2075147-2076011	GM18526	blood:	n/a	n/a
33	MAX	chr8:2075612-2076093	A549	lung:	n/a	n/a
34	POLR2A	chr8:2075118-2076046	PFSK-1	brain:	n/a	n/a
35	RXRA	chr8:2075437-2075861	HepG2	liver:	n/a	n/a
36	POLR2A	chr8:2075621-2076046	HCT-116	colon:	n/a	n/a
37	POLR2A	chr8:2074950-2076071	PFSK-1	brain:	n/a	n/a
38	JUN	chr8:2075676-2076370	K562	blood:	n/a	n/a
39	CBX3	chr8:2075182-2075993	K562	blood:	n/a	n/a
40	POLR2A	chr8:2075118-2076067	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr8:2075646-2075895	K562	blood:	n/a	n/a
42	POLR2A	chr8:2075068-2076040	NB4	blood:	n/a	n/a
43	CREB1	chr8:2075043-2076203	K562	blood:	n/a	n/a
44	ZNF263	chr8:2073998-2075860	HEK293-T-REx	kidney:	n/a	n/a
45	RFX5	chr8:2075703-2075731	HepG2	liver:	n/a	n/a
46	SPI1	chr8:2075377-2075858	GM12878	blood:	n/a	n/a
47	IRF1	chr8:2075420-2075889	K562	blood:	n/a	n/a
48	SIX5	chr8:2075381-2075882	A549	lung:	n/a	n/a
49	MAX	chr8:2075628-2075926	K562	blood:	n/a	n/a
50	POLR2A	chr8:2075040-2075984	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
MYOM2	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17064844	1.00[AFR][1000 genomes]
rs17064857	1.00[AFR][1000 genomes]
rs17064865	1.00[AFR][1000 genomes]
rs17685326	1.00[AFR][1000 genomes]
rs17752388	1.00[AFR][1000 genomes]
rs17752636	1.00[AFR][1000 genomes]
rs17759031	1.00[AFR][1000 genomes]
rs55634999	1.00[AFR][1000 genomes]
rs56095029	1.00[AFR][1000 genomes]
rs56124008	1.00[AFR][1000 genomes]
rs62478455	1.00[AFR][1000 genomes]
rs62478458	1.00[AFR][1000 genomes]
rs62479960	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62479964	1.00[AFR][1000 genomes]
rs62479967	1.00[AFR][1000 genomes]
rs62480005	1.00[AFR][1000 genomes]
rs62501380	1.00[AFR][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	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2074400-2076200	Weak transcription	Fetal Heart	heart
2	chr8:2074400-2076400	Active TSS	Stomach Smooth Muscle	stomach
3	chr8:2074600-2076000	Active TSS	Brain Substantia Nigra	brain
4	chr8:2074800-2076000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:2074800-2076000	Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr8:2074800-2076000	Active TSS	Brain Cingulate Gyrus	brain
7	chr8:2074800-2076000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:2074800-2076000	Active TSS	Colonic Mucosa	Colon
9	chr8:2074800-2076000	Active TSS	Rectal Smooth Muscle	rectum
10	chr8:2074800-2076200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:2074800-2076200	Active TSS	Duodenum Mucosa	Duodenum
12	chr8:2074800-2076400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:2074800-2076400	Active TSS	Fetal Lung	lung
14	chr8:2074800-2076600	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr8:2074800-2076600	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr8:2075000-2076000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:2075000-2076000	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr8:2075000-2076000	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr8:2075000-2076000	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr8:2075000-2076000	Active TSS	Primary T cells from cord blood	blood
21	chr8:2075000-2076000	Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr8:2075000-2076000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:2075000-2076000	Active TSS	Aorta	Aorta
24	chr8:2075000-2076000	Active TSS	Brain Anterior Caudate	brain
25	chr8:2075000-2076000	Active TSS	Brain Germinal Matrix	brain
26	chr8:2075000-2076000	Active TSS	Brain Hippocampus Middle	brain
27	chr8:2075000-2076000	Active TSS	Colon Smooth Muscle	Colon
28	chr8:2075000-2076000	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr8:2075000-2076000	Active TSS	Ovary	ovary
30	chr8:2075000-2076000	Active TSS	Right Atrium	heart
31	chr8:2075000-2076200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr8:2075000-2076200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:2075000-2076200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:2075000-2076200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:2075000-2076200	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr8:2075000-2076200	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr8:2075000-2076200	Active TSS	Muscle Satellite Cultured Cells	--
38	chr8:2075000-2076200	Active TSS	Fetal Brain Female	brain
39	chr8:2075000-2076200	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr8:2075000-2076400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:2075000-2076400	Active TSS	Fetal Kidney	kidney
42	chr8:2075000-2076400	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr8:2075000-2076400	Active TSS	NHDF-Ad	bronchial
44	chr8:2075000-2076600	Active TSS	Primary B cells from cord blood	blood
45	chr8:2075200-2075800	Active TSS	Gastric	stomach
46	chr8:2075200-2076000	Active TSS	H1 Cell Line	embryonic stem cell
47	chr8:2075200-2076000	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr8:2075200-2076000	Active TSS	Brain Angular Gyrus	brain
49	chr8:2075200-2076000	Active TSS	Fetal Intestine Large	intestine
50	chr8:2075200-2076000	Active TSS	Fetal Intestine Small	intestine

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