Variant report

Variant	rs2246676
Chromosome Location	chr10:43599500-43599501
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:0)
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	chr10:43599476-43599526	NH-A	brain:	n/a
2	chr10:43599476-43599526	AG09309	skin:	n/a
3	chr10:43599476-43599526	HNPCEpiC	eye:	n/a
4	chr10:43599476-43599526	GM19239	blood:	n/a
5	chr10:43599476-43599526	NHDF-neo	bronchial:	n/a
6	chr10:43599476-43599526	ProgFib	skin:	n/a
7	chr10:43599476-43599526	HMEC	breast:	n/a
8	chr10:43599476-43599526	SK-N-SH_RA	brain:	n/a
9	chr10:43599476-43599526	HUVEC	blood vessel:	n/a
10	chr10:43599476-43599526	MCF10A-Er-Src	breast:	n/a
11	chr10:43599476-43599526	HRCEpiC	kidney:	n/a
12	chr10:43599476-43599526	HL-60	blood:	n/a
13	chr10:43599476-43599526	SK-N-MC	brain:	n/a
14	chr10:43599476-43599526	BE2_C	brain:	n/a
15	chr10:43599476-43599526	HEEpiC	esophagus:	n/a
16	chr10:43599476-43599526	GM12892	blood:	n/a
17	chr10:43599476-43599526	BJ	skin:	n/a
18	chr10:43599476-43599526	U87	brain:	n/a
19	chr10:43599476-43599526	HEK293	kidney:	embryo
20	chr10:43599476-43599526	HCM	heart:	n/a
21	chr10:43599476-43599526	NT2-D1	testis:	n/a
22	chr10:43599476-43599526	AG09319	gingival:	n/a
23	chr10:43599476-43599526	HIPEpiC	eye:	n/a
24	chr10:43599476-43599526	HCT-116	colon:	n/a
25	chr10:43599476-43599526	SK-N-SH	brain:	n/a
26	chr10:43599476-43599526	HAEpiC	amniotic membrane:	n/a
27	chr10:43599476-43599526	RPTEC	kidney:	n/a
28	chr10:43599476-43599526	PFSK-1	brain:	n/a
29	chr10:43599476-43599526	MCF-7	breast:	n/a
30	chr10:43599476-43599526	ECC-1	luminal epithelium:	n/a
31	chr10:43599476-43599526	H1-hESC	embryonic stem cell:	embryo
32	chr10:43599476-43599526	Caco-2	colon:	n/a
33	chr10:43599476-43599526	K562	blood:	n/a
34	chr10:43599476-43599526	SKMC	muscle:	n/a
35	chr10:43599476-43599526	AG10803	skin:	n/a
36	chr10:43599476-43599526	IMR90	lung:	fetal
37	chr10:43599476-43599526	AG04449	skin:	fetal
38	chr10:43599476-43599526	Hepatocyte	liver:	n/a
39	chr10:43599476-43599526	ovcar-3	ovarian:	n/a
40	chr10:43599476-43599526	SAEC	small airway:	n/a
41	chr10:43599476-43599526	NB4	blood:	n/a
42	chr10:43599476-43599526	LNCaP	prostate:	n/a
43	chr10:43599476-43599526	T-47D	breast:	n/a
44	chr10:43599476-43599526	HepG2	liver:	n/a
45	chr10:43599476-43599526	A549	lung:	n/a
46	chr10:43599476-43599526	HCF	heart:	n/a
47	chr10:43599476-43599526	GM12891	blood:	n/a
48	chr10:43599476-43599526	NHBE	bronchial:	n/a
49	chr10:43599476-43599526	CMK	blood:	n/a
50	chr10:43599476-43599526	Hela-S3	cervix:	n/a

No data

Variant related genes	Relation type
RET	CpG island

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs2435342	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2435343	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2435345	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2435346	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2435347	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2435348	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2435352	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2472738	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2472740	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2505530	0.83[EUR][1000 genomes]
rs2505531	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2505532	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2505538	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2505539	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2505540	0.83[EUR][1000 genomes]
rs2505992	0.94[ASN][1000 genomes]
rs2506022	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2506023	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2506024	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3123655	0.83[EUR][1000 genomes]
rs3128726	0.83[EUR][1000 genomes]
rs35800403	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs752975	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs752978	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050394	chr10:42890663-43604956	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv540573	chr10:42890663-43604956	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv1038102	chr10:43441601-43642908	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv466880	chr10:43452436-43616751	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
7	nsv550695	chr10:43452436-43616751	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv1051701	chr10:43555542-43642895	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv522592	chr10:43574936-43615505	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv522566	chr10:43596728-43610671	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43597000-43600200	Weak transcription	Right Atrium	heart
2	chr10:43597800-43599800	Weak transcription	Spleen	Spleen
3	chr10:43598200-43600000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:43599400-43599600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr10:43599400-43600000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:43599400-43600000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:43599400-43600000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr10:43599400-43600000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr10:43599400-43600200	Bivalent Enhancer	Esophagus	oesophagus
10	chr10:43599400-43600400	Enhancers	Pancreas	Pancrea

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