Variant report

Variant	rs12765436
Chromosome Location	chr10:43728231-43728232
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:43728230-43728280	MCF10A-Er-Src	breast:	n/a
2	chr10:43728230-43728280	AG09309	skin:	n/a
3	chr10:43728230-43728280	HIPEpiC	eye:	n/a
4	chr10:43728230-43728280	BJ	skin:	n/a
5	chr10:43728230-43728280	SAEC	small airway:	n/a
6	chr10:43728230-43728280	NH-A	brain:	n/a
7	chr10:43728230-43728280	Jurkat	blood:	n/a
8	chr10:43728230-43728280	HCT-116	colon:	n/a
9	chr10:43728230-43728280	HCPEpiC	choroid plexus:	n/a
10	chr10:43728230-43728280	PANC-1	pancreas:	n/a
11	chr10:43728230-43728280	AoSMC	blood vessel:	n/a
12	chr10:43728230-43728280	HEK293	kidney:	embryo
13	chr10:43728230-43728280	AG10803	skin:	n/a
14	chr10:43728230-43728280	GM12891	blood:	n/a
15	chr10:43728230-43728280	IMR90	lung:	fetal
16	chr10:43728230-43728280	AG04449	skin:	fetal
17	chr10:43728230-43728280	SK-N-MC	brain:	n/a
18	chr10:43728230-43728280	CMK	blood:	n/a
19	chr10:43728230-43728280	GM06990	blood:	n/a
20	chr10:43728230-43728280	HUVEC	blood vessel:	n/a
21	chr10:43728230-43728280	NB4	blood:	n/a
22	chr10:43728230-43728280	MCF-7	breast:	n/a
23	chr10:43728230-43728280	ECC-1	luminal epithelium:	n/a
24	chr10:43728230-43728280	HRPEpiC	eye:	n/a
25	chr10:43728230-43728280	RPTEC	kidney:	n/a
26	chr10:43728230-43728280	Hela-S3	cervix:	n/a
27	chr10:43728230-43728280	SK-N-SH	brain:	n/a
28	chr10:43728230-43728280	HRCEpiC	kidney:	n/a
29	chr10:43728230-43728280	GM19239	blood:	n/a
30	chr10:43728230-43728280	HCM	heart:	n/a
31	chr10:43728230-43728280	A549	lung:	n/a
32	chr10:43728230-43728280	Caco-2	colon:	n/a
33	chr10:43728230-43728280	AG09319	gingival:	n/a
34	chr10:43728230-43728280	HL-60	blood:	n/a
35	chr10:43728230-43728280	HEEpiC	esophagus:	n/a
36	chr10:43728230-43728280	HPAEpiC	pulmonary alveolar:	n/a
37	chr10:43728230-43728280	T-47D	breast:	n/a
38	chr10:43728230-43728280	AG04450	lung:	fetal
39	chr10:43728230-43728280	BE2_C	brain:	n/a
40	chr10:43728230-43728280	SKMC	muscle:	n/a
41	chr10:43728230-43728280	HNPCEpiC	eye:	n/a
42	chr10:43728230-43728280	NT2-D1	testis:	n/a
43	chr10:43728230-43728280	Hepatocyte	liver:	n/a
44	chr10:43728230-43728280	PrEC	prostate:	n/a
45	chr10:43728230-43728280	PFSK-1	brain:	n/a
46	chr10:43728230-43728280	HCF	heart:	n/a
47	chr10:43728230-43728280	HMEC	breast:	n/a
48	chr10:43728230-43728280	ovcar-3	ovarian:	n/a
49	chr10:43728230-43728280	H1-hESC	embryonic stem cell:	embryo
50	chr10:43728230-43728280	U87	brain:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:43721241..43722992-chr10:43727167..43730117,3	MCF-7	breast:
2	chr10:43722360..43723991-chr10:43726752..43728958,3	K562	blood:
3	chr10:43726760..43729695-chr10:43750265..43752104,2	MCF-7	breast:
4	chr10:43724251..43726692-chr10:43727831..43729775,2	K562	blood:

No data

Variant related genes	Relation type
RASGEF1A	CpG island
ENSG00000198915	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10159558	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11238465	0.93[ASN][1000 genomes]
rs12258585	0.82[ASN][1000 genomes]
rs12260994	0.81[ASN][1000 genomes]
rs12262152	0.93[ASN][1000 genomes]
rs12765715	0.82[ASN][1000 genomes]
rs12765838	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12766298	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12775330	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12775743	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12779732	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17363630	0.93[ASN][1000 genomes]
rs1864393	0.93[ASN][1000 genomes]
rs1879298	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1879299	0.81[EUR][1000 genomes]
rs28401552	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2900627	0.87[ASN][1000 genomes]
rs3026776	0.82[ASN][1000 genomes]
rs3026779	0.82[ASN][1000 genomes]
rs3026781	0.82[ASN][1000 genomes]
rs3026782	0.82[ASN][1000 genomes]
rs34817887	0.82[ASN][1000 genomes]
rs4987091	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66557659	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7067798	0.95[EUR][1000 genomes]
rs7074319	0.93[ASN][1000 genomes]
rs7086299	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7092548	0.93[ASN][1000 genomes]
rs7096367	0.93[ASN][1000 genomes]
rs71505665	0.82[ASN][1000 genomes]
rs71505667	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71505668	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783237	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72783242	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7893332	0.93[ASN][1000 genomes]
rs7903283	0.93[ASN][1000 genomes]
rs7910648	0.93[ASN][1000 genomes]
rs7910805	0.93[ASN][1000 genomes]
rs7921281	0.91[ASN][1000 genomes]
rs7923256	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9804209	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv895082	chr10:43530071-43755506	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv895083	chr10:43549708-43765485	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv916378	chr10:43622151-43868356	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1043661	chr10:43626619-43890162	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv540574	chr10:43626619-43890162	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	esv1831010	chr10:43674916-43759185	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv895084	chr10:43688505-43765485	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv466881	chr10:43695049-43799588	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv550696	chr10:43695049-43799588	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv895085	chr10:43695049-43804617	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv825351	chr10:43714249-43788481	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1035873	chr10:43721143-43873664	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv466882	chr10:43721481-43849358	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
16	nsv550697	chr10:43721481-43849358	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43727400-43729000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:43727400-43731200	Weak transcription	Spleen	Spleen
3	chr10:43728000-43729000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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