Variant report

Variant	rs946436
Chromosome Location	chr1:217265865-217265866
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr1:217265845-217266012	SH-SY5Y	brain:	n/a	chr1:217265982-217265991

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:217265862-217265912	ovcar-3	ovarian:	n/a
2	chr1:217265862-217265912	RPTEC	kidney:	n/a
3	chr1:217265862-217265912	GM19239	blood:	n/a
4	chr1:217265862-217265912	HEEpiC	esophagus:	n/a
5	chr1:217265862-217265912	LNCaP	prostate:	n/a
6	chr1:217265862-217265912	AG10803	skin:	n/a
7	chr1:217265862-217265912	NHBE	bronchial:	n/a
8	chr1:217265862-217265912	Jurkat	blood:	n/a
9	chr1:217265862-217265912	HMEC	breast:	n/a
10	chr1:217265862-217265912	BE2_C	brain:	n/a
11	chr1:217265862-217265912	AG04449	skin:	fetal
12	chr1:217265862-217265912	H1-hESC	embryonic stem cell:	embryo
13	chr1:217265862-217265912	GM12891	blood:	n/a
14	chr1:217265862-217265912	HL-60	blood:	n/a
15	chr1:217265862-217265912	MCF10A-Er-Src	breast:	n/a
16	chr1:217265862-217265912	Hepatocyte	liver:	n/a
17	chr1:217265862-217265912	SK-N-SH_RA	brain:	n/a
18	chr1:217265862-217265912	PFSK-1	brain:	n/a
19	chr1:217265862-217265912	AG09319	gingival:	n/a
20	chr1:217265862-217265912	AG04450	lung:	fetal
21	chr1:217265862-217265912	PANC-1	pancreas:	n/a
22	chr1:217265862-217265912	HIPEpiC	eye:	n/a
23	chr1:217265862-217265912	SK-N-MC	brain:	n/a
24	chr1:217265862-217265912	HEK293	kidney:	embryo
25	chr1:217265862-217265912	IMR90	lung:	fetal
26	chr1:217265862-217265912	HCT-116	colon:	n/a
27	chr1:217265862-217265912	MCF-7	breast:	n/a
28	chr1:217265862-217265912	HCM	heart:	n/a
29	chr1:217265862-217265912	GM06990	blood:	n/a
30	chr1:217265862-217265912	GM12878	blood:	n/a
31	chr1:217265862-217265912	U87	brain:	n/a
32	chr1:217265862-217265912	CMK	blood:	n/a
33	chr1:217265862-217265912	HNPCEpiC	eye:	n/a
34	chr1:217265862-217265912	T-47D	breast:	n/a
35	chr1:217265862-217265912	AoSMC	blood vessel:	n/a
36	chr1:217265862-217265912	HRE	kidney:	n/a
37	chr1:217265862-217265912	HRPEpiC	eye:	n/a
38	chr1:217265862-217265912	PrEC	prostate:	n/a
39	chr1:217265862-217265912	AG09309	skin:	n/a
40	chr1:217265862-217265912	SK-N-SH	brain:	n/a
41	chr1:217265862-217265912	SAEC	small airway:	n/a
42	chr1:217265862-217265912	Caco-2	colon:	n/a
43	chr1:217265862-217265912	ProgFib	skin:	n/a
44	chr1:217265862-217265912	A549	lung:	n/a
45	chr1:217265862-217265912	HCF	heart:	n/a
46	chr1:217265862-217265912	HCPEpiC	choroid plexus:	n/a
47	chr1:217265862-217265912	HRCEpiC	kidney:	n/a
48	chr1:217265862-217265912	NT2-D1	testis:	n/a
49	chr1:217265862-217265912	HAEpiC	amniotic membrane:	n/a
50	chr1:217265862-217265912	Hela-S3	cervix:	n/a

No data

Variant related genes	Relation type
ESRRG	TF binding region
ESRRG	CpG island

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1166352	0.87[ASW][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1166353	0.86[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1339220	1.00[ASW][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2489773	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs830304	0.86[YRI][hapmap];0.84[AFR][1000 genomes]
rs830309	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs830314	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs830315	1.00[AMR][1000 genomes]
rs830319	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs946435	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][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	nsv428610	chr1:217143317-217307243	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv549205	chr1:217165548-217270219	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217264000-217271800	Weak transcription	Pancreas	Pancrea
2	chr1:217264200-217267200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr1:217264400-217266200	Enhancers	Fetal Intestine Large	intestine
4	chr1:217264400-217266200	Enhancers	Fetal Intestine Small	intestine
5	chr1:217264400-217269000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:217264400-217270800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:217264600-217266200	Enhancers	Fetal Heart	heart
8	chr1:217265000-217266000	Enhancers	Fetal Kidney	kidney
9	chr1:217265000-217267800	Weak transcription	Fetal Brain Male	brain
10	chr1:217265000-217269800	Weak transcription	Psoas Muscle	Psoas
11	chr1:217265200-217269000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:217265200-217269600	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:217265400-217266000	Weak transcription	Right Ventricle	heart
14	chr1:217265600-217269600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links