Variant report

Variant	rs11573018
Chromosome Location	chr4:57976720-57976721
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr4:57976007-57977704	NB4	blood:	n/a	n/a
2	POLR2A	chr4:57975916-57977186	HUVEC	blood vessel:	n/a	n/a
3	RAD21	chr4:57975818-57977524	IMR90	lung:	n/a	n/a
4	MAZ	chr4:57975533-57978084	IMR90	lung:	n/a	n/a
5	POLR2A	chr4:57972428-57977904	IMR90	lung:	n/a	n/a
6	PAX5	chr4:57976627-57976834	GM12878	blood:	n/a	n/a
7	POLR2A	chr4:57975977-57977225	ProgFib	skin:	n/a	n/a
8	SPI1	chr4:57976714-57977458	HL-60	blood:	n/a	n/a
9	POLR2A	chr4:57975464-57977315	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr4:57976683-57976758	A549	lung:	n/a	n/a
11	CHD1	chr4:57973519-57977830	IMR90	lung:	n/a	n/a
12	BACH1	chr4:57976687-57977317	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr4:57976652-57977487	U87	brain:	n/a	n/a
14	POLR2A	chr4:57975837-57976844	A549	lung:	n/a	n/a
15	POLR2A	chr4:57976224-57976746	A549	lung:	n/a	n/a
16	MAZ	chr4:57976527-57976769	K562	blood:	n/a	n/a
17	POLR2A	chr4:57976115-57977705	U87	brain:	n/a	n/a
18	MAX	chr4:57975801-57976909	A549	lung:	n/a	n/a
19	POLR2A	chr4:57975793-57976942	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr4:57976666-57976798	A549	lung:	n/a	n/a
21	POLR2A	chr4:57976288-57977242	U87	brain:	n/a	n/a
22	POLR2A	chr4:57975161-57977444	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr4:57976324-57976783	ECC-1	luminal epithelium:	n/a	n/a
24	HA-E2F1	chr4:57976093-57976746	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr4:57976451-57976771	HepG2	liver:	n/a	n/a
26	POLR2A	chr4:57975484-57977753	HL-60	blood:	n/a	n/a
27	MAZ	chr4:57976514-57976740	Hela-S3	cervix:	n/a	n/a
28	MYC	chr4:57976020-57977677	NB4	blood:	n/a	n/a
29	POLR2A	chr4:57976318-57976727	ECC-1	luminal epithelium:	n/a	n/a
30	CTBP2	chr4:57975585-57977526	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr4:57976014-57977520	NB4	blood:	n/a	n/a
32	PAX5	chr4:57976590-57976804	GM12892	blood:	n/a	n/a
33	POLR2A	chr4:57975736-57977586	HL-60	blood:	n/a	n/a
34	MXI1	chr4:57974888-57977913	IMR90	lung:	n/a	n/a
35	POLR2A	chr4:57976149-57977536	Gliobla	brain:	n/a	n/a
36	POLR2A	chr4:57975457-57977126	HUVEC	blood vessel:	n/a	n/a
37	REST	chr4:57975591-57977728	HL-60	blood:	n/a	chr4:57976519-57976529 chr4:57977134-57977147 chr4:57977324-57977332 chr4:57976830-57976843
38	POLR2A	chr4:57975797-57977594	HUVEC	blood vessel:	n/a	n/a
39	MAX	chr4:57976094-57976943	ECC-1	luminal epithelium:	n/a	n/a

No data

Variant related genes	Relation type
IGFBP7	TF binding region
ENSG00000238541	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10002669	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10013983	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11573014	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28405417	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34816319	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4611988	0.91[EUR][1000 genomes]
rs67057259	0.90[EUR][1000 genomes]
rs71601676	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]

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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	esv3324890	chr4:57975020-57977568	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57972400-57977800	Active TSS	Aorta	Aorta
2	chr4:57973200-57977000	Active TSS	Fetal Kidney	kidney
3	chr4:57973200-57977600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr4:57973200-57977600	Active TSS	Psoas Muscle	Psoas
5	chr4:57973200-57977800	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr4:57973400-57977200	Active TSS	Brain Hippocampus Middle	brain
7	chr4:57973400-57977600	Active TSS	Left Ventricle	heart
8	chr4:57973600-57977600	Active TSS	Right Ventricle	heart
9	chr4:57973600-57977800	Active TSS	Ovary	ovary
10	chr4:57973600-57977800	Active TSS	Right Atrium	heart
11	chr4:57973800-57977000	Active TSS	HSMMtube	muscle
12	chr4:57973800-57977400	Active TSS	Brain Anterior Caudate	brain
13	chr4:57974200-57977000	Active TSS	A549	lung
14	chr4:57974200-57977800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:57974400-57976800	Active TSS	Muscle Satellite Cultured Cells	--
16	chr4:57974400-57976800	Active TSS	NHLF	lung
17	chr4:57974400-57977600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:57974600-57977000	Active TSS	NHEK	skin
19	chr4:57974600-57977400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:57974800-57976800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr4:57974800-57976800	Active TSS	Osteobl	bone
22	chr4:57974800-57977400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:57975000-57976800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr4:57975000-57977000	Active TSS	Rectal Smooth Muscle	rectum
25	chr4:57975000-57977000	Active TSS	HSMM	muscle
26	chr4:57975000-57977400	Active TSS	Colon Smooth Muscle	Colon
27	chr4:57975000-57977600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:57975000-57977800	Active TSS	Brain Substantia Nigra	brain
29	chr4:57975000-57977800	Active TSS	NHDF-Ad	bronchial
30	chr4:57975200-57976800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
31	chr4:57975200-57977000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr4:57975200-57977000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
33	chr4:57975200-57977600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr4:57975200-57977600	Active TSS	Brain Cingulate Gyrus	brain
35	chr4:57975200-57977600	Active TSS	Lung	lung
36	chr4:57975400-57976800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
37	chr4:57975400-57976800	Active TSS	Hela-S3	cervix
38	chr4:57975400-57977000	Active TSS	Small Intestine	intestine
39	chr4:57975400-57977200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
40	chr4:57975400-57977400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
41	chr4:57975400-57977600	Active TSS	Brain Angular Gyrus	brain
42	chr4:57975600-57976800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr4:57975600-57976800	Bivalent/Poised TSS	Fetal Brain Female	brain
44	chr4:57975600-57976800	Active TSS	HUVEC	blood vessel
45	chr4:57975600-57977000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
46	chr4:57975600-57977000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
47	chr4:57975600-57977000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:57975600-57977200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
49	chr4:57975600-57977400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
50	chr4:57975600-57977600	Active TSS	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links