Variant report

Variant	rs11162567
Chromosome Location	chr1:75593875-75593876
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:75593860-75594010	HFF-Myc	foreskin:	n/a	n/a
2	E2F6	chr1:75593364-75594141	H1-hESC	embryonic stem cell:	n/a	n/a
3	SMC3	chr1:75593775-75593907	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr1:75593860-75594010	WI-38	lung:	n/a	n/a
5	CEBPB	chr1:75593822-75594084	K562	blood:	n/a	chr1:75593928-75593939
6	CEBPB	chr1:75593753-75593978	HepG2	liver:	n/a	chr1:75593928-75593939

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:75593865-75593915	NHDF-neo	bronchial:	n/a
2	chr1:75593865-75593915	SK-N-MC	brain:	n/a
3	chr1:75593865-75593915	HPAEpiC	pulmonary alveolar:	n/a
4	chr1:75593865-75593915	NH-A	brain:	n/a
5	chr1:75593865-75593915	GM19239	blood:	n/a
6	chr1:75593865-75593915	AG10803	skin:	n/a
7	chr1:75593865-75593915	AoSMC	blood vessel:	n/a
8	chr1:75593865-75593915	PrEC	prostate:	n/a
9	chr1:75593865-75593915	NHBE	bronchial:	n/a
10	chr1:75593865-75593915	PFSK-1	brain:	n/a
11	chr1:75593865-75593915	SK-N-SH	brain:	n/a
12	chr1:75593865-75593915	K562	blood:	n/a
13	chr1:75593865-75593915	Hela-S3	cervix:	n/a
14	chr1:75593865-75593915	HL-60	blood:	n/a
15	chr1:75593865-75593915	NB4	blood:	n/a
16	chr1:75593865-75593915	RPTEC	kidney:	n/a
17	chr1:75593865-75593915	HCT-116	colon:	n/a
18	chr1:75593865-75593915	HCF	heart:	n/a
19	chr1:75593865-75593915	ovcar-3	ovarian:	n/a
20	chr1:75593865-75593915	BE2_C	brain:	n/a
21	chr1:75593865-75593915	CMK	blood:	n/a
22	chr1:75593865-75593915	NT2-D1	testis:	n/a
23	chr1:75593865-75593915	A549	lung:	n/a
24	chr1:75593865-75593915	HIPEpiC	eye:	n/a
25	chr1:75593865-75593915	SAEC	small airway:	n/a
26	chr1:75593865-75593915	HRPEpiC	eye:	n/a
27	chr1:75593865-75593915	MCF-7	breast:	n/a
28	chr1:75593865-75593915	HEEpiC	esophagus:	n/a
29	chr1:75593865-75593915	HRCEpiC	kidney:	n/a
30	chr1:75593865-75593915	AG04450	lung:	fetal
31	chr1:75593865-75593915	IMR90	lung:	fetal
32	chr1:75593865-75593915	HCPEpiC	choroid plexus:	n/a
33	chr1:75593865-75593915	U87	brain:	n/a
34	chr1:75593865-75593915	BJ	skin:	n/a
35	chr1:75593865-75593915	H1-hESC	embryonic stem cell:	embryo
36	chr1:75593865-75593915	HUVEC	blood vessel:	n/a
37	chr1:75593865-75593915	GM06990	blood:	n/a
38	chr1:75593865-75593915	GM12891	blood:	n/a
39	chr1:75593865-75593915	T-47D	breast:	n/a
40	chr1:75593865-75593915	PANC-1	pancreas:	n/a
41	chr1:75593865-75593915	HMEC	breast:	n/a
42	chr1:75593865-75593915	HAEpiC	amniotic membrane:	n/a
43	chr1:75593865-75593915	GM12892	blood:	n/a
44	chr1:75593865-75593915	HepG2	liver:	n/a
45	chr1:75593865-75593915	GM12878	blood:	n/a
46	chr1:75593865-75593915	HCM	heart:	n/a
47	chr1:75593865-75593915	AG09309	skin:	n/a
48	chr1:75593865-75593915	HNPCEpiC	eye:	n/a
49	chr1:75593865-75593915	ECC-1	luminal epithelium:	n/a
50	chr1:75593865-75593915	HRE	kidney:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC44A5-2	chr1:75593515-75593938	ENSG00000224127.1

No data

Variant related genes	Relation type
ENSG00000261213	TF binding region
LHX8	TF binding region
ENSG00000261213	CpG island
LHX8	CpG island

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1007512	0.81[ASN][1000 genomes]
rs10493552	0.86[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs10493553	0.86[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs11162513	0.80[ASN][1000 genomes]
rs12036667	0.88[ASN][1000 genomes]
rs12041465	0.86[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs12563445	0.87[ASN][1000 genomes]
rs12565272	0.87[ASN][1000 genomes]
rs1526504	0.88[ASN][1000 genomes]
rs1526505	0.86[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs1526507	0.80[ASN][1000 genomes]
rs1526513	0.92[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17096272	0.87[ASN][1000 genomes]
rs17096289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7520936	0.80[ASN][1000 genomes]
rs7535534	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs941032	0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[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	nsv871743	chr1:75235082-75714554	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3368999	chr1:75524762-75933220	Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75592800-75594800	Weak transcription	Pancreas	Pancrea
2	chr1:75593600-75594200	ZNF genes & repeats	Lung	lung
3	chr1:75593800-75594000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
4	chr1:75593800-75594000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
5	chr1:75593800-75594000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
6	chr1:75593800-75594000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:75593800-75594000	Bivalent Enhancer	Brain Hippocampus Middle	brain
8	chr1:75593800-75594000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
9	chr1:75593800-75594000	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
10	chr1:75593800-75594000	Bivalent Enhancer	Fetal Intestine Small	intestine
11	chr1:75593800-75594200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:75593800-75594200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:75593800-75594200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:75593800-75594200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:75593800-75594200	Bivalent Enhancer	Liver	Liver
16	chr1:75593800-75594200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr1:75593800-75594200	Bivalent Enhancer	HMEC	breast
18	chr1:75593800-75594400	Bivalent Enhancer	HepG2	liver

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