Variant report

Variant	rs17565134
Chromosome Location	chr1:220392412-220392413
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr1:220392023-220392617	MCF10A-Er-Src	breast:	n/a	chr1:220392216-220392226
2	RAD21	chr1:220391838-220392781	SK-N-SH	brain:	n/a	n/a
3	CTCF	chr1:220392015-220392496	HCT-116	colon:	n/a	n/a
4	MXI1	chr1:220392072-220392995	SK-N-SH	brain:	n/a	n/a
5	CTCF	chr1:220392002-220392418	A549	lung:	n/a	n/a
6	MAFK	chr1:220392026-220394150	GM12878	blood:	n/a	chr1:220393268-220393283 chr1:220393272-220393283
7	RAD21	chr1:220392077-220392470	MCF-7	breast:	n/a	n/a
8	RAD21	chr1:220391900-220392445	A549	lung:	n/a	n/a
9	RAD21	chr1:220392002-220392423	HepG2	liver:	n/a	n/a
10	ZMIZ1	chr1:220392107-220392479	K562	blood:	n/a	n/a
11	RAD21	chr1:220392013-220392415	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr1:220392112-220395447	GM12878	blood:	n/a	n/a
13	EP300	chr1:220392094-220392796	K562	blood:	n/a	n/a
14	RAD21	chr1:220391914-220392420	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr1:220391984-220392437	SK-N-SH	brain:	n/a	n/a
16	USF1	chr1:220392038-220392425	H1-hESC	embryonic stem cell:	n/a	n/a
17	RAD21	chr1:220391915-220392458	HCT-116	colon:	n/a	n/a
18	JUND	chr1:220392079-220392674	K562	blood:	n/a	n/a
19	RAD21	chr1:220392065-220392450	ECC-1	luminal epithelium:	n/a	n/a
20	RAD21	chr1:220392054-220392415	MCF-7	breast:	n/a	n/a
21	E2F4	chr1:220392139-220392427	MCF10A-Er-Src	breast:	n/a	n/a
22	CTCF	chr1:220391847-220392510	A549	lung:	n/a	n/a
23	RAD21	chr1:220392053-220392500	HCT-116	colon:	n/a	n/a
24	SMC3	chr1:220392010-220392912	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:220385337..220388816-chr1:220389719..220393116,3	K562	blood:
2	chr1:220391829..220392619-chr1:220454152..220454910,2	MCF-7	breast:
3	chr1:220390706..220392701-chr1:220399648..220402266,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000270708	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10863537	0.83[CEU][hapmap]
rs11095	0.82[CEU][hapmap];0.84[GIH][hapmap];0.91[JPT][hapmap];0.87[TSI][hapmap]
rs11118508	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs12402633	0.83[EUR][1000 genomes]
rs12404532	0.94[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];0.80[GIH][hapmap];0.82[JPT][hapmap];0.82[TSI][hapmap];0.92[EUR][1000 genomes]
rs12404566	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12409065	0.83[EUR][1000 genomes]
rs12568267	0.82[EUR][1000 genomes]
rs1511695	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs17563262	0.82[CEU][hapmap];0.82[TSI][hapmap]
rs17563518	0.82[CEU][hapmap];0.87[TSI][hapmap]
rs17563587	0.82[CEU][hapmap];0.87[TSI][hapmap]
rs2048477	0.93[EUR][1000 genomes]
rs2053250	0.82[TSI][hapmap]
rs3738336	0.82[CEU][hapmap];0.80[GIH][hapmap];0.91[JPT][hapmap];0.87[TSI][hapmap]
rs3767654	0.94[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs3814345	0.83[EUR][1000 genomes]
rs4351641	0.94[CEU][hapmap];0.80[MKK][hapmap];0.90[TSI][hapmap];0.89[EUR][1000 genomes]
rs56074233	0.83[EUR][1000 genomes]
rs57557703	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59681037	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72747401	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72749210	0.83[EUR][1000 genomes]
rs7526460	0.83[EUR][1000 genomes]
rs7541290	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs7543828	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7551804	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs866978	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17565134	EPRS	cis	parietal	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220325000-220398400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:220374600-220407600	Weak transcription	Fetal Brain Male	brain
3	chr1:220375600-220393400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:220378800-220398200	Weak transcription	Psoas Muscle	Psoas
5	chr1:220378800-220398200	Weak transcription	Small Intestine	intestine
6	chr1:220379000-220392600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:220379000-220393200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:220379000-220418200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr1:220379200-220392600	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:220379200-220397600	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:220379200-220400400	Weak transcription	Right Ventricle	heart
12	chr1:220379200-220409600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:220379200-220410800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:220379200-220422600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:220380400-220393600	Weak transcription	Lung	lung
16	chr1:220380400-220398200	Weak transcription	Brain Anterior Caudate	brain
17	chr1:220380400-220400800	Weak transcription	Spleen	Spleen
18	chr1:220381200-220422000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:220384000-220399400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:220384200-220392600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:220384200-220392600	Weak transcription	Brain Germinal Matrix	brain
22	chr1:220384200-220393400	Weak transcription	Thymus	Thymus
23	chr1:220384200-220396400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:220384200-220398200	Weak transcription	Aorta	Aorta
25	chr1:220384200-220398200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr1:220384200-220398600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:220384200-220398800	Weak transcription	Fetal Intestine Small	intestine
28	chr1:220384200-220400000	Weak transcription	Pancreas	Pancrea
29	chr1:220384200-220400200	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:220384200-220400400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:220384200-220402800	Weak transcription	NHLF	lung
32	chr1:220384200-220404400	Weak transcription	Ovary	ovary
33	chr1:220384200-220408800	Weak transcription	A549	lung
34	chr1:220384200-220420600	Weak transcription	Fetal Kidney	kidney
35	chr1:220384200-220423000	Weak transcription	Esophagus	oesophagus
36	chr1:220384200-220425800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr1:220384400-220398200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr1:220384400-220400200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr1:220384400-220413400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr1:220384600-220392600	Weak transcription	Brain Substantia Nigra	brain
41	chr1:220384600-220394600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr1:220384800-220393400	Weak transcription	Fetal Stomach	stomach
43	chr1:220384800-220393600	Weak transcription	Gastric	stomach
44	chr1:220384800-220398000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:220384800-220398200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr1:220384800-220398800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:220384800-220398800	Weak transcription	Fetal Intestine Large	intestine
48	chr1:220384800-220399000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr1:220384800-220399000	Weak transcription	Colonic Mucosa	Colon
50	chr1:220384800-220400000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links