Variant report

Variant	rs7514922
Chromosome Location	chr1:47648338-47648339
allele	A/C
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	REST	chr1:47648071-47648424	HepG2	liver:	n/a	chr1:47648241-47648261 chr1:47648247-47648256 chr1:47648241-47648261
2	REST	chr1:47648132-47648378	K562	blood:	n/a	chr1:47648241-47648261 chr1:47648247-47648256 chr1:47648241-47648261
3	REST	chr1:47648036-47648457	ECC-1	luminal epithelium:	n/a	chr1:47648241-47648261 chr1:47648247-47648256 chr1:47648241-47648261
4	REST	chr1:47647945-47648467	PFSK-1	brain:	n/a	chr1:47648241-47648261 chr1:47648247-47648256 chr1:47648241-47648261
5	REST	chr1:47648135-47648373	Hela-S3	cervix:	n/a	chr1:47648241-47648261 chr1:47648247-47648256 chr1:47648241-47648261
6	POLR2A	chr1:47644504-47649036	PBDE	blood:	n/a	n/a
7	REST	chr1:47648147-47648415	SK-N-SH	brain:	n/a	chr1:47648241-47648261 chr1:47648247-47648256 chr1:47648241-47648261
8	REST	chr1:47647799-47648471	U87	brain:	n/a	chr1:47648241-47648261 chr1:47648247-47648256 chr1:47648241-47648261
9	REST	chr1:47648140-47648352	HepG2	liver:	n/a	chr1:47648241-47648261 chr1:47648247-47648256 chr1:47648241-47648261
10	GATA1	chr1:47644591-47648456	K562	blood:	n/a	chr1:47647612-47647622 chr1:47646983-47647000 chr1:47647126-47647142
11	JUN	chr1:47644112-47648863	K562	blood:	n/a	chr1:47646419-47646428 chr1:47646028-47646040
12	GATA1	chr1:47645709-47648633	PBDE	blood:	n/a	chr1:47647612-47647622 chr1:47646983-47647000 chr1:47647126-47647142
13	RCOR1	chr1:47645791-47648413	K562	blood:	n/a	n/a
14	REST	chr1:47648050-47648408	PFSK-1	brain:	n/a	chr1:47648241-47648261 chr1:47648247-47648256 chr1:47648241-47648261
15	REST	chr1:47648066-47648493	ECC-1	luminal epithelium:	n/a	chr1:47648241-47648261 chr1:47648247-47648256 chr1:47648241-47648261
16	REST	chr1:47648123-47648417	A549	lung:	n/a	chr1:47648241-47648261 chr1:47648247-47648256 chr1:47648241-47648261
17	REST	chr1:47648142-47648339	HepG2	liver:	n/a	chr1:47648241-47648261 chr1:47648247-47648256 chr1:47648241-47648261
18	POLR2A	chr1:47644269-47648471	K562	blood:	n/a	n/a
19	NR2F2	chr1:47645591-47648538	K562	blood:	n/a	n/a
20	RFX5	chr1:47648048-47648354	K562	blood:	n/a	n/a
21	REST	chr1:47647938-47648419	A549	lung:	n/a	chr1:47648241-47648261 chr1:47648247-47648256 chr1:47648241-47648261
22	REST	chr1:47648071-47648383	K562	blood:	n/a	chr1:47648241-47648261 chr1:47648247-47648256 chr1:47648241-47648261
23	REST	chr1:47647799-47648473	U87	brain:	n/a	chr1:47648241-47648261 chr1:47648247-47648256 chr1:47648241-47648261

No.	Distal block	Cell Line	Cell type
1	chr1:47643662..47647110-chr1:47647403..47650161,3	K562	blood:
2	chr1:47645556..47648396-chr1:47802544..47805360,3	K562	blood:
3	chr1:47647073..47651610-chr1:47798272..47801392,5	K562	blood:

Variant related genes	Relation type
CYP4A22-AS1	TF binding region
ENSG00000225506	Chromatin interaction
ENSG00000224805	Chromatin interaction
ENSG00000162368	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3737771	0.95[ASN][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	nsv916813	chr1:47435635-47666179	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47645400-47649400	Weak transcription	Lung	lung
2	chr1:47645400-47649600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:47645400-47650000	Enhancers	Stomach Mucosa	stomach
4	chr1:47645600-47648600	Enhancers	Fetal Intestine Small	intestine
5	chr1:47645600-47649600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr1:47645600-47650000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:47645800-47649600	Enhancers	Primary hematopoietic stem cells	blood
8	chr1:47646200-47649000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr1:47646200-47652200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:47646400-47653200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:47646600-47652000	Weak transcription	Pancreas	Pancrea
12	chr1:47647000-47650600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:47647200-47648600	Enhancers	HUVEC	blood vessel
14	chr1:47647200-47653000	Weak transcription	Colonic Mucosa	Colon
15	chr1:47647200-47655200	Weak transcription	Right Atrium	heart
16	chr1:47647400-47648600	Enhancers	Esophagus	oesophagus
17	chr1:47647400-47648800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:47647400-47648800	Flanking Bivalent TSS/Enh	HepG2	liver
19	chr1:47647600-47648400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:47647600-47649000	Enhancers	A549	lung
21	chr1:47648000-47648800	Enhancers	Gastric	stomach
22	chr1:47648200-47650000	Enhancers	K562	blood
23	chr1:47648200-47651000	Weak transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links