Variant report

Variant	rs577642420
Chromosome Location	chr2:115918739-115918740
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr2:115918518-115919187	H1-hESC	embryonic stem cell:	n/a	n/a
2	SP1	chr2:115918445-115919040	H1-hESC	embryonic stem cell:	n/a	chr2:115918982-115918994 chr2:115918984-115918993 chr2:115918983-115918993 chr2:115918979-115918993 chr2:115918984-115918993 chr2:115918982-115918994 chr2:115918983-115918993 chr2:115918983-115918992 chr2:115918833-115918844
3	RAD21	chr2:115918629-115919031	H1-hESC	embryonic stem cell:	n/a	chr2:115918976-115918990
4	RFX5	chr2:115918677-115919034	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr2:115918139-115918807	H1-hESC	embryonic stem cell:	n/a	chr2:115918279-115918290 chr2:115918281-115918288 chr2:115918279-115918289 chr2:115918278-115918286 chr2:115918280-115918289
6	JUND	chr2:115918634-115919032	H1-hESC	embryonic stem cell:	n/a	chr2:115918982-115918991 chr2:115918954-115918968
7	GTF2F1	chr2:115918351-115918894	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr2:115918018-115918788	HepG2	liver:	n/a	chr2:115918279-115918290 chr2:115918281-115918288 chr2:115918279-115918289 chr2:115918278-115918286 chr2:115918280-115918289
9	JUND	chr2:115918652-115919066	H1-hESC	embryonic stem cell:	n/a	chr2:115918982-115918991 chr2:115919056-115919065 chr2:115918954-115918968
10	BACH1	chr2:115918502-115919163	H1-hESC	embryonic stem cell:	n/a	n/a
11	EGR1	chr2:115918552-115919037	H1-hESC	embryonic stem cell:	n/a	chr2:115918982-115918992
12	MAX	chr2:115918126-115919369	H1-hESC	embryonic stem cell:	n/a	chr2:115918279-115918290 chr2:115918281-115918288 chr2:115919292-115919302 chr2:115918279-115918289 chr2:115918278-115918286 chr2:115918280-115918289
13	CREB1	chr2:115918528-115919004	H1-hESC	embryonic stem cell:	n/a	n/a
14	SP1	chr2:115918457-115919172	H1-hESC	embryonic stem cell:	n/a	chr2:115918982-115918994 chr2:115918984-115918993 chr2:115918983-115918993 chr2:115918979-115918993 chr2:115918984-115918993 chr2:115918982-115918994 chr2:115918983-115918993 chr2:115919056-115919069 chr2:115918983-115918992 chr2:115918833-115918844
15	E2F6	chr2:115917958-115919412	H1-hESC	embryonic stem cell:	n/a	chr2:115918262-115918273 chr2:115919298-115919310 chr2:115918983-115918992 chr2:115918262-115918273 chr2:115919298-115919307 chr2:115919401-115919410
16	YY1	chr2:115918637-115919201	HepG2	liver:	n/a	chr2:115919088-115919102 chr2:115918983-115918992
17	MAX	chr2:115918095-115919702	H1-hESC	embryonic stem cell:	n/a	chr2:115918279-115918290 chr2:115918281-115918288 chr2:115919292-115919302 chr2:115918279-115918289 chr2:115918278-115918286 chr2:115918280-115918289
18	E2F6	chr2:115918091-115919655	H1-hESC	embryonic stem cell:	n/a	chr2:115918262-115918273 chr2:115919298-115919310 chr2:115918983-115918992 chr2:115918262-115918273 chr2:115919298-115919307 chr2:115919616-115919626 chr2:115919401-115919410

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC35F5-9	chr2:115918681-115918768	ENSG00000235026.1
2	lnc-SLC35F5-9	chr2:115918681-115918920	ENSG00000235026.1
3	lnc-SLC35F5-9	chr2:115918681-115918958	NONHSAT073869
4	lnc-SLC35F5-9	chr2:115918681-115918958	NONHSAT073871

Variant related genes	Relation type
DPP10	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv3404972	chr2:115918007-115920855	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3387285	chr2:115918207-115920805	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:115918000-115919000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:115918000-115919800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:115918000-115920000	Active TSS	Brain Angular Gyrus	brain
4	chr2:115918000-115920000	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr2:115918000-115920600	Active TSS	Rectal Smooth Muscle	rectum
6	chr2:115918000-115920800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr2:115918000-115920800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr2:115918000-115921200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr2:115918200-115918800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
10	chr2:115918200-115918800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
11	chr2:115918200-115918800	Bivalent Enhancer	Fetal Thymus	thymus
12	chr2:115918200-115918800	Flanking Bivalent TSS/Enh	HepG2	liver
13	chr2:115918200-115919800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:115918200-115919800	Active TSS	Colonic Mucosa	Colon
15	chr2:115918200-115920000	Active TSS	Fetal Brain Female	brain
16	chr2:115918200-115920200	Active TSS	Gastric	stomach
17	chr2:115918200-115920400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
18	chr2:115918200-115920400	Active TSS	Brain Anterior Caudate	brain
19	chr2:115918200-115920400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:115918200-115920800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr2:115918200-115921200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr2:115918400-115918800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr2:115918400-115918800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
24	chr2:115918400-115918800	Bivalent Enhancer	Esophagus	oesophagus
25	chr2:115918400-115918800	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
26	chr2:115918400-115918800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
27	chr2:115918400-115918800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
28	chr2:115918400-115919000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:115918400-115919200	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr2:115918400-115919600	Bivalent/Poised TSS	Thymus	Thymus
31	chr2:115918400-115919800	Active TSS	Brain Substantia Nigra	brain
32	chr2:115918400-115920000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:115918400-115920000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:115918400-115920000	Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr2:115918400-115920200	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr2:115918400-115920600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:115918600-115918800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:115918600-115918800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
39	chr2:115918600-115918800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
40	chr2:115918600-115918800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:115918600-115918800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
42	chr2:115918600-115918800	Bivalent Enhancer	Placenta	Placenta
43	chr2:115918600-115919000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr2:115918600-115919000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
45	chr2:115918600-115919000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr2:115918600-115919000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:115918600-115919000	Bivalent/Poised TSS	Adipose Nuclei	Adipose
48	chr2:115918600-115919000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
49	chr2:115918600-115919200	Bivalent Enhancer	Primary B cells from cord blood	blood
50	chr2:115918600-115919200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin

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