Variant report

Variant	rs184821542
Chromosome Location	chr2:115920865-115920866
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr2:115920516-115921004	H1-hESC	embryonic stem cell:	n/a	chr2:115920521-115920534 chr2:115920521-115920534 chr2:115920795-115920804
2	REST	chr2:115920551-115920911	ECC-1	luminal epithelium:	n/a	chr2:115920795-115920804
3	REST	chr2:115920694-115921020	ECC-1	luminal epithelium:	n/a	chr2:115920795-115920804
4	MAX	chr2:115920484-115920944	H1-hESC	embryonic stem cell:	n/a	chr2:115920726-115920735
5	REST	chr2:115920494-115921080	HL-60	blood:	n/a	chr2:115920521-115920534 chr2:115920521-115920534 chr2:115920795-115920804
6	REST	chr2:115920637-115920998	HL-60	blood:	n/a	chr2:115920795-115920804
7	SIN3A	chr2:115920374-115920978	H1-hESC	embryonic stem cell:	n/a	n/a
8	REST	chr2:115920603-115920893	HepG2	liver:	n/a	chr2:115920795-115920804
9	REST	chr2:115920590-115921005	H1-hESC	embryonic stem cell:	n/a	chr2:115920795-115920804
10	POLR2A	chr2:115920504-115920984	H1-neurons	neurons:	n/a	n/a
11	REST	chr2:115920619-115920987	PFSK-1	brain:	n/a	chr2:115920795-115920804
12	MAX	chr2:115920495-115920948	H1-hESC	embryonic stem cell:	n/a	chr2:115920726-115920735
13	CEBPB	chr2:115920841-115921055	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:115920825-115920875	AG04449	skin:	fetal
2	chr2:115920825-115920875	GM06990	blood:	n/a
3	chr2:115920825-115920875	Jurkat	blood:	n/a
4	chr2:115920825-115920875	NH-A	brain:	n/a
5	chr2:115920825-115920875	PrEC	prostate:	n/a
6	chr2:115920825-115920875	K562	blood:	n/a
7	chr2:115920825-115920875	SK-N-MC	brain:	n/a
8	chr2:115920825-115920875	GM19239	blood:	n/a
9	chr2:115920825-115920875	Hepatocyte	liver:	n/a
10	chr2:115920825-115920875	T-47D	breast:	n/a
11	chr2:115920825-115920875	HL-60	blood:	n/a
12	chr2:115920825-115920875	CMK	blood:	n/a
13	chr2:115920825-115920875	ProgFib	skin:	n/a
14	chr2:115920825-115920875	H1-hESC	embryonic stem cell:	embryo
15	chr2:115920825-115920875	PFSK-1	brain:	n/a
16	chr2:115920825-115920875	HNPCEpiC	eye:	n/a
17	chr2:115920825-115920875	AG10803	skin:	n/a
18	chr2:115920825-115920875	ovcar-3	ovarian:	n/a
19	chr2:115920825-115920875	HepG2	liver:	n/a
20	chr2:115920825-115920875	HRE	kidney:	n/a
21	chr2:115920825-115920875	HAEpiC	amniotic membrane:	n/a
22	chr2:115920825-115920875	BE2_C	brain:	n/a
23	chr2:115920825-115920875	LNCaP	prostate:	n/a
24	chr2:115920825-115920875	PANC-1	pancreas:	n/a
25	chr2:115920825-115920875	HIPEpiC	eye:	n/a
26	chr2:115920825-115920875	Caco-2	colon:	n/a
27	chr2:115920825-115920875	Hela-S3	cervix:	n/a
28	chr2:115920825-115920875	HPAEpiC	pulmonary alveolar:	n/a
29	chr2:115920825-115920875	HRPEpiC	eye:	n/a
30	chr2:115920825-115920875	MCF-7	breast:	n/a
31	chr2:115920825-115920875	SK-N-SH	brain:	n/a
32	chr2:115920825-115920875	AG09319	gingival:	n/a
33	chr2:115920825-115920875	SAEC	small airway:	n/a
34	chr2:115920825-115920875	SKMC	muscle:	n/a
35	chr2:115920825-115920875	RPTEC	kidney:	n/a
36	chr2:115920825-115920875	GM12892	blood:	n/a
37	chr2:115920825-115920875	AG09309	skin:	n/a
38	chr2:115920825-115920875	GM12878	blood:	n/a
39	chr2:115920825-115920875	NB4	blood:	n/a
40	chr2:115920825-115920875	HUVEC	blood vessel:	n/a
41	chr2:115920825-115920875	HCPEpiC	choroid plexus:	n/a
42	chr2:115920825-115920875	NHBE	bronchial:	n/a
43	chr2:115920825-115920875	IMR90	lung:	fetal
44	chr2:115920825-115920875	MCF10A-Er-Src	breast:	n/a
45	chr2:115920825-115920875	HCF	heart:	n/a
46	chr2:115920825-115920875	U87	brain:	n/a
47	chr2:115920825-115920875	AoSMC	blood vessel:	n/a
48	chr2:115920825-115920875	HCT-116	colon:	n/a
49	chr2:115920825-115920875	HEK293	kidney:	embryo
50	chr2:115920825-115920875	HRCEpiC	kidney:	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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:115918000-115921200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr2:115918200-115921200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
3	chr2:115918600-115921000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:115918600-115921000	Active TSS	Pancreas	Pancrea
5	chr2:115919600-115921000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr2:115919800-115921000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr2:115919800-115921000	Bivalent Enhancer	Liver	Liver
8	chr2:115919800-115921200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:115920000-115921000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chr2:115920000-115921000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:115920000-115921000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
12	chr2:115920000-115921000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr2:115920000-115921200	Bivalent/Poised TSS	Fetal Brain Female	brain
14	chr2:115920000-115921200	Bivalent/Poised TSS	Fetal Kidney	kidney
15	chr2:115920200-115921000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:115920200-115921000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
17	chr2:115920200-115921200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
18	chr2:115920200-115921600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:115920400-115921800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:115920600-115921000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:115920600-115921200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr2:115920600-115921600	Active TSS	Brain Angular Gyrus	brain
23	chr2:115920600-115921600	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr2:115920600-115921600	Bivalent/Poised TSS	Fetal Brain Male	brain
25	chr2:115920800-115921000	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:115920800-115921000	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
27	chr2:115920800-115921000	Active TSS	Rectal Smooth Muscle	rectum
28	chr2:115920800-115921200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
29	chr2:115920800-115921200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
30	chr2:115920800-115921200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
31	chr2:115920800-115921200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
32	chr2:115920800-115921200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
33	chr2:115920800-115921200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
34	chr2:115920800-115921400	Active TSS	Brain Hippocampus Middle	brain
35	chr2:115920800-115921400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr2:115920800-115921400	Bivalent Enhancer	Fetal Stomach	stomach

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