Variant report

Variant	rs549549241
Chromosome Location	chr2:115921293-115921294
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:115921266-115921454	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr2:115921185-115921486	H1-hESC	embryonic stem cell:	n/a	n/a
3	YY1	chr2:115921163-115921444	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr2:115921056-115921504	H1-neurons	neurons:	n/a	n/a
5	RAD21	chr2:115921204-115921502	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr2:115921114-115921556	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr2:115921260-115921410	WERI-Rb-1	eye:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:115921258-115921308	SAEC	small airway:	n/a
2	chr2:115921258-115921308	GM12891	blood:	n/a
3	chr2:115921258-115921308	ProgFib	skin:	n/a
4	chr2:115921258-115921308	ECC-1	luminal epithelium:	n/a
5	chr2:115921258-115921308	HNPCEpiC	eye:	n/a
6	chr2:115921258-115921308	GM06990	blood:	n/a
7	chr2:115921258-115921308	HCPEpiC	choroid plexus:	n/a
8	chr2:115921258-115921308	Hela-S3	cervix:	n/a
9	chr2:115921258-115921308	ovcar-3	ovarian:	n/a
10	chr2:115921258-115921308	Jurkat	blood:	n/a
11	chr2:115921258-115921308	Caco-2	colon:	n/a
12	chr2:115921258-115921308	CMK	blood:	n/a
13	chr2:115921258-115921308	NT2-D1	testis:	n/a
14	chr2:115921258-115921308	LNCaP	prostate:	n/a
15	chr2:115921258-115921308	SK-N-MC	brain:	n/a
16	chr2:115921258-115921308	AG09309	skin:	n/a
17	chr2:115921258-115921308	HCT-116	colon:	n/a
18	chr2:115921258-115921308	AG04449	skin:	fetal
19	chr2:115921258-115921308	BJ	skin:	n/a
20	chr2:115921258-115921308	GM12878	blood:	n/a
21	chr2:115921258-115921308	HAEpiC	amniotic membrane:	n/a
22	chr2:115921258-115921308	GM12892	blood:	n/a
23	chr2:115921258-115921308	HCM	heart:	n/a
24	chr2:115921258-115921308	MCF-7	breast:	n/a
25	chr2:115921258-115921308	RPTEC	kidney:	n/a
26	chr2:115921258-115921308	HEEpiC	esophagus:	n/a
27	chr2:115921258-115921308	SKMC	muscle:	n/a
28	chr2:115921258-115921308	HUVEC	blood vessel:	n/a
29	chr2:115921258-115921308	PrEC	prostate:	n/a
30	chr2:115921258-115921308	AoSMC	blood vessel:	n/a
31	chr2:115921258-115921308	MCF10A-Er-Src	breast:	n/a
32	chr2:115921258-115921308	HRE	kidney:	n/a
33	chr2:115921258-115921308	NHDF-neo	bronchial:	n/a
34	chr2:115921258-115921308	Hepatocyte	liver:	n/a
35	chr2:115921258-115921308	SK-N-SH	brain:	n/a
36	chr2:115921258-115921308	HEK293	kidney:	embryo
37	chr2:115921258-115921308	AG09319	gingival:	n/a
38	chr2:115921258-115921308	GM19239	blood:	n/a
39	chr2:115921258-115921308	HL-60	blood:	n/a
40	chr2:115921258-115921308	PANC-1	pancreas:	n/a
41	chr2:115921258-115921308	IMR90	lung:	fetal
42	chr2:115921258-115921308	U87	brain:	n/a
43	chr2:115921258-115921308	PFSK-1	brain:	n/a
44	chr2:115921258-115921308	BE2_C	brain:	n/a
45	chr2:115921258-115921308	HPAEpiC	pulmonary alveolar:	n/a
46	chr2:115921258-115921308	SK-N-SH_RA	brain:	n/a
47	chr2:115921258-115921308	AG04450	lung:	fetal
48	chr2:115921258-115921308	K562	blood:	n/a
49	chr2:115921258-115921308	HRCEpiC	kidney:	n/a
50	chr2:115921258-115921308	A549	lung:	n/a

No data

Variant related genes	Relation type
DPP10-AS1	TF binding region
DPP10-AS1	CpG island

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv1014713	chr2:115858427-116018055	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1001542	chr2:115920847-116082585	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:115920200-115921600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:115920400-115921800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:115920600-115921600	Active TSS	Brain Angular Gyrus	brain
4	chr2:115920600-115921600	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr2:115920600-115921600	Bivalent/Poised TSS	Fetal Brain Male	brain
6	chr2:115920800-115921400	Active TSS	Brain Hippocampus Middle	brain
7	chr2:115920800-115921400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
8	chr2:115920800-115921400	Bivalent Enhancer	Fetal Stomach	stomach
9	chr2:115921000-115921400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
10	chr2:115921000-115921400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
11	chr2:115921000-115921600	Bivalent Enhancer	Fetal Intestine Large	intestine
12	chr2:115921200-115921400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
13	chr2:115921200-115921400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:115921200-115921400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
15	chr2:115921200-115921400	Bivalent Enhancer	Brain Germinal Matrix	brain
16	chr2:115921200-115921600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
17	chr2:115921200-115921600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr2:115921200-115921600	Active TSS	Fetal Brain Female	brain

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