Variant report

Variant	rs585935
Chromosome Location	chr1:84853511-84853512
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:84853500-84853650	HPF	lung:	n/a	n/a
2	RAD21	chr1:84853410-84853771	ECC-1	luminal epithelium:	n/a	n/a
3	CTCF	chr1:84853469-84853767	Gliobla	brain:	n/a	n/a
4	RAD21	chr1:84853459-84853745	IMR90	lung:	n/a	n/a
5	CTCF	chr1:84853500-84853650	RPTEC	kidney:	n/a	n/a
6	CTCF	chr1:84853500-84853650	GM12865	blood:	n/a	n/a
7	CTCF	chr1:84853406-84853750	K562	blood:	n/a	n/a
8	CTCF	chr1:84853500-84853650	NHLF	lung:	n/a	n/a
9	RAD21	chr1:84853330-84853818	H1-hESC	embryonic stem cell:	n/a	n/a
10	GATA2	chr1:84853360-84853724	HUVEC	blood vessel:	n/a	n/a
11	CTCF	chr1:84853497-84853751	ProgFib	skin:	n/a	n/a
12	CTCF	chr1:84853460-84853610	BE2_C	brain:	n/a	n/a
13	RAD21	chr1:84853422-84853775	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr1:84853447-84853773	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr1:84853460-84853610	GM12865	blood:	n/a	n/a
16	RAD21	chr1:84853279-84853979	HCT-116	colon:	n/a	n/a
17	CTCF	chr1:84853424-84853853	K562	blood:	n/a	n/a
18	CTCF	chr1:84853500-84853650	MCF-7	breast:	n/a	n/a
19	CTCF	chr1:84853500-84853650	HFF-Myc	foreskin:	n/a	n/a
20	CTCF	chr1:84853324-84853785	K562	blood:	n/a	n/a
21	CTCF	chr1:84853440-84853590	SK-N-SH_RA	brain:	n/a	n/a
22	SMC3	chr1:84853432-84853781	K562	blood:	n/a	n/a
23	ZNF143	chr1:84853472-84853742	K562	blood:	n/a	n/a
24	RAD21	chr1:84853379-84853808	SK-N-SH_RA	brain:	n/a	n/a
25	CBX3	chr1:84852779-84853919	HCT-116	colon:	n/a	n/a
26	RAD21	chr1:84853466-84853802	MCF-7	breast:	n/a	n/a
27	CTCF	chr1:84853486-84853714	H1-hESC	embryonic stem cell:	n/a	n/a
28	RCOR1	chr1:84853426-84853776	K562	blood:	n/a	n/a
29	CTCF	chr1:84853500-84853650	HRE	kidney:	n/a	n/a
30	CTCF	chr1:84853500-84853650	HAc	cerebellar:	n/a	n/a
31	GATA2	chr1:84853408-84853749	K562	blood:	n/a	n/a
32	CTCF	chr1:84853405-84854012	K562	blood:	n/a	n/a
33	CTCF	chr1:84853294-84853974	HCT-116	colon:	n/a	n/a
34	RAD21	chr1:84853490-84853754	K562	blood:	n/a	n/a
35	RAD21	chr1:84853478-84853765	HepG2	liver:	n/a	n/a
36	RAD21	chr1:84853444-84853789	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr1:84853480-84853630	NHEK	skin:	n/a	n/a
38	CTCF	chr1:84853480-84853630	WERI-Rb-1	eye:	n/a	n/a
39	CTCF	chr1:84853500-84853650	HEK293	kidney:	n/a	n/a
40	RAD21	chr1:84853389-84853840	ECC-1	luminal epithelium:	n/a	n/a
41	CTCF	chr1:84853500-84853650	NHDF-neo	bronchial:	n/a	n/a
42	CTCF	chr1:84853352-84853774	MCF-7	breast:	n/a	n/a
43	RAD21	chr1:84853314-84853930	HCT-116	colon:	n/a	n/a
44	CTCF	chr1:84853485-84853771	IMR90	lung:	n/a	n/a
45	CTCF	chr1:84853500-84853650	SAEC	small airway:	n/a	n/a
46	TEAD4	chr1:84853406-84853752	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84853389..84854043-chr1:85237940..85238620,2	K562	blood:

No data

Variant related genes	Relation type
UOX	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12039378	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12042948	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12044734	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12568281	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2275571	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs315512	0.90[ASN][1000 genomes]
rs477253	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs507863	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs508767	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548310	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs576888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs579351	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs580171	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636484	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs649845	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs666062	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6696653	0.91[EUR][1000 genomes]
rs7554646	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv830426	chr1:84704924-84856229	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84845600-84857200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:84845800-84854800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr1:84846400-84856000	Weak transcription	NHLF	lung
4	chr1:84852000-84857200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:84852200-84853800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:84852400-84853600	Enhancers	NHEK	skin
7	chr1:84852600-84853600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:84852800-84853600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:84852800-84853600	Enhancers	HUVEC	blood vessel
10	chr1:84853000-84853600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:84853000-84853600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:84853200-84853600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:84853200-84855800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:84853400-84853600	Enhancers	Brain Anterior Caudate	brain
15	chr1:84853400-84854800	Enhancers	GM12878-XiMat	blood
16	chr1:84853400-84855800	Weak transcription	HMEC	breast

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