Variant report

Variant	rs115976776
Chromosome Location	chr2:185462452-185462453
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr2:185462255-185462551	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr2:185461247-185463866	SK-N-SH	brain:	n/a	chr2:185463244-185463258
3	RELA	chr2:185462043-185464668	GM12891	blood:	n/a	n/a
4	POLR2A	chr2:185461631-185464960	Raji	blood:	n/a	n/a
5	POLR2A	chr2:185462276-185463856	GM19193	blood:	n/a	n/a
6	MXI1	chr2:185461442-185464988	IMR90	lung:	n/a	n/a
7	POLR2A	chr2:185461406-185465047	HL-60	blood:	n/a	n/a
8	JUND	chr2:185462269-185462632	H1-hESC	embryonic stem cell:	n/a	n/a
9	MXI1	chr2:185461351-185464665	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr2:185462013-185464616	HL-60	blood:	n/a	n/a
11	POLR2A	chr2:185461375-185465153	GM12891	blood:	n/a	n/a
12	POLR2A	chr2:185462080-185463795	H1-neurons	neurons:	n/a	n/a
13	CTCF	chr2:185462340-185462490	HBMEC	blood vessel:	n/a	n/a
14	GATA2	chr2:185461995-185464636	SH-SY5Y	brain:	n/a	chr2:185462807-185462815 chr2:185464562-185464570
15	TCF7L2	chr2:185461759-185462544	PANC-1	pancreas:	n/a	n/a
16	SPI1	chr2:185462229-185462738	HL-60	blood:	n/a	n/a
17	RAD21	chr2:185462269-185462845	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr2:185462231-185462719	PFSK-1	brain:	n/a	n/a
19	POLR2A	chr2:185462268-185463927	H1-neurons	neurons:	n/a	n/a
20	SPI1	chr2:185462266-185462609	GM12891	blood:	n/a	n/a
21	CTCF	chr2:185462380-185462530	GM12873	blood:	n/a	n/a
22	MYC	chr2:185461458-185464935	NB4	blood:	n/a	chr2:185462936-185462945 chr2:185464199-185464209
23	WRNIP1	chr2:185462305-185462572	GM12878	blood:	n/a	n/a
24	MAX	chr2:185461515-185464880	NB4	blood:	n/a	chr2:185462936-185462945 chr2:185464199-185464209
25	POLR2A	chr2:185461776-185464583	GM19099	blood:	n/a	n/a
26	POLR2A	chr2:185461736-185463826	IMR90	lung:	n/a	n/a
27	POLR2A	chr2:185461498-185464857	NB4	blood:	n/a	n/a
28	SPI1	chr2:185462321-185462565	GM12891	blood:	n/a	n/a
29	REST	chr2:185462114-185462911	HL-60	blood:	n/a	n/a
30	REST	chr2:185461925-185463950	H1-neurons	neurons:	n/a	chr2:185463245-185463263
31	POLR2A	chr2:185462381-185464544	GM18951	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:185462408-185462458	HUVEC	blood vessel:	n/a
2	chr2:185462408-185462458	HEK293	kidney:	embryo
3	chr2:185462408-185462458	SKMC	muscle:	n/a
4	chr2:185462408-185462458	SK-N-MC	brain:	n/a
5	chr2:185462408-185462458	RPTEC	kidney:	n/a
6	chr2:185462408-185462458	PANC-1	pancreas:	n/a
7	chr2:185462408-185462458	ECC-1	luminal epithelium:	n/a
8	chr2:185462408-185462458	NT2-D1	testis:	n/a
9	chr2:185462408-185462458	SAEC	small airway:	n/a
10	chr2:185462408-185462458	PrEC	prostate:	n/a
11	chr2:185462408-185462458	Jurkat	blood:	n/a
12	chr2:185462408-185462458	AG10803	skin:	n/a
13	chr2:185462408-185462458	BJ	skin:	n/a
14	chr2:185462408-185462458	CMK	blood:	n/a
15	chr2:185462408-185462458	NHDF-neo	bronchial:	n/a
16	chr2:185462408-185462458	HepG2	liver:	n/a
17	chr2:185462408-185462458	U87	brain:	n/a
18	chr2:185462408-185462458	AoSMC	blood vessel:	n/a
19	chr2:185462408-185462458	ProgFib	skin:	n/a
20	chr2:185462408-185462458	Hela-S3	cervix:	n/a
21	chr2:185462408-185462458	MCF-7	breast:	n/a
22	chr2:185462408-185462458	PFSK-1	brain:	n/a
23	chr2:185462408-185462458	HAEpiC	amniotic membrane:	n/a
24	chr2:185462408-185462458	AG09319	gingival:	n/a
25	chr2:185462408-185462458	Caco-2	colon:	n/a
26	chr2:185462408-185462458	GM06990	blood:	n/a
27	chr2:185462408-185462458	GM12891	blood:	n/a
28	chr2:185462408-185462458	HCPEpiC	choroid plexus:	n/a
29	chr2:185462408-185462458	SK-N-SH	brain:	n/a
30	chr2:185462408-185462458	SK-N-SH_RA	brain:	n/a
31	chr2:185462408-185462458	HL-60	blood:	n/a
32	chr2:185462408-185462458	GM19239	blood:	n/a
33	chr2:185462408-185462458	BE2_C	brain:	n/a
34	chr2:185462408-185462458	HCM	heart:	n/a
35	chr2:185462408-185462458	Hepatocyte	liver:	n/a
36	chr2:185462408-185462458	K562	blood:	n/a
37	chr2:185462408-185462458	AG04449	skin:	fetal
38	chr2:185462408-185462458	LNCaP	prostate:	n/a
39	chr2:185462408-185462458	H1-hESC	embryonic stem cell:	embryo
40	chr2:185462408-185462458	GM12878	blood:	n/a
41	chr2:185462408-185462458	NHBE	bronchial:	n/a
42	chr2:185462408-185462458	HNPCEpiC	eye:	n/a
43	chr2:185462408-185462458	HPAEpiC	pulmonary alveolar:	n/a
44	chr2:185462408-185462458	AG04450	lung:	fetal
45	chr2:185462408-185462458	HIPEpiC	eye:	n/a
46	chr2:185462408-185462458	AG09309	skin:	n/a
47	chr2:185462408-185462458	HRCEpiC	kidney:	n/a
48	chr2:185462408-185462458	ovcar-3	ovarian:	n/a
49	chr2:185462408-185462458	NH-A	brain:	n/a
50	chr2:185462408-185462458	A549	lung:	n/a

No data

Variant related genes	Relation type
ZNF804A	TF binding region
ZNF804A	CpG island

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875497	chr2:185134237-185474770	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv875512	chr2:185300641-185474770	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv532412	chr2:185347334-186108701	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	esv1818452	chr2:185428946-185503154	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3437193	chr2:185461732-185464880	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185461200-185462600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
2	chr2:185461200-185462800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:185461200-185466200	Active TSS	NHLF	lung
4	chr2:185461400-185462600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr2:185461400-185462800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr2:185461400-185462800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:185461400-185464000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:185461400-185464000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:185461400-185466200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:185461600-185462600	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr2:185461600-185463200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:185461600-185463800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:185461600-185463800	Active TSS	Primary monocytes fromperipheralblood	blood
14	chr2:185461600-185464000	Active TSS	Brain Angular Gyrus	brain
15	chr2:185461600-185464000	Active TSS	Brain Germinal Matrix	brain
16	chr2:185461600-185464000	Active TSS	Brain Substantia Nigra	brain
17	chr2:185461600-185464400	Active TSS	Brain Cingulate Gyrus	brain
18	chr2:185461600-185464600	Active TSS	Brain Anterior Caudate	brain
19	chr2:185461600-185464600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr2:185461600-185465200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:185461600-185466200	Active TSS	Fetal Brain Female	brain
22	chr2:185461800-185462600	Bivalent/Poised TSS	Fetal Kidney	kidney
23	chr2:185461800-185462600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
24	chr2:185461800-185462600	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr2:185461800-185462600	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
26	chr2:185461800-185462800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr2:185461800-185463000	Active TSS	Fetal Brain Male	brain
28	chr2:185461800-185463600	Active TSS	Ovary	ovary
29	chr2:185461800-185464000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:185461800-185464000	Active TSS	Monocytes-CD14+_RO01746	blood
31	chr2:185461800-185464200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
32	chr2:185461800-185464400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
33	chr2:185461800-185464800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
34	chr2:185461800-185466000	Active TSS	Fetal Stomach	stomach
35	chr2:185462000-185462600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
36	chr2:185462000-185462600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:185462000-185462600	Flanking Bivalent TSS/Enh	NHEK	skin
38	chr2:185462000-185462600	Flanking Active TSS	Osteobl	bone
39	chr2:185462000-185462800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:185462000-185462800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
41	chr2:185462000-185462800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
42	chr2:185462000-185463000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr2:185462000-185463000	Active TSS	Colonic Mucosa	Colon
44	chr2:185462000-185463400	Active TSS	HSMMtube	muscle
45	chr2:185462000-185463600	Bivalent/Poised TSS	Stomach Mucosa	stomach
46	chr2:185462000-185463800	Active TSS	H9 Cell Line	embryonic stem cell
47	chr2:185462000-185463800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
48	chr2:185462000-185463800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
49	chr2:185462000-185463800	Active TSS	Colon Smooth Muscle	Colon
50	chr2:185462000-185464000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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