Variant report

Variant	rs74018298
Chromosome Location	chr16:48190014-48190015
allele	C/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:3)
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	chr16:48190013-48190063	MCF10A-Er-Src	breast:	n/a
2	chr16:48190013-48190063	HPAEpiC	pulmonary alveolar:	n/a
3	chr16:48190013-48190063	ECC-1	luminal epithelium:	n/a
4	chr16:48190013-48190063	BE2_C	brain:	n/a
5	chr16:48190013-48190063	AG09309	skin:	n/a
6	chr16:48190013-48190063	AG09319	gingival:	n/a
7	chr16:48190013-48190063	AG04450	lung:	fetal
8	chr16:48190013-48190063	HCM	heart:	n/a
9	chr16:48190013-48190063	NHBE	bronchial:	n/a
10	chr16:48190013-48190063	HCT-116	colon:	n/a
11	chr16:48190013-48190063	HNPCEpiC	eye:	n/a
12	chr16:48190013-48190063	Hela-S3	cervix:	n/a
13	chr16:48190013-48190063	HIPEpiC	eye:	n/a
14	chr16:48190013-48190063	PrEC	prostate:	n/a
15	chr16:48190013-48190063	SAEC	small airway:	n/a
16	chr16:48190013-48190063	HEK293	kidney:	embryo
17	chr16:48190013-48190063	HCPEpiC	choroid plexus:	n/a
18	chr16:48190013-48190063	GM19239	blood:	n/a
19	chr16:48190013-48190063	SK-N-SH_RA	brain:	n/a
20	chr16:48190013-48190063	H1-hESC	embryonic stem cell:	embryo
21	chr16:48190013-48190063	HMEC	breast:	n/a
22	chr16:48190013-48190063	Hepatocyte	liver:	n/a
23	chr16:48190013-48190063	Jurkat	blood:	n/a
24	chr16:48190013-48190063	NB4	blood:	n/a
25	chr16:48190013-48190063	U87	brain:	n/a
26	chr16:48190013-48190063	ovcar-3	ovarian:	n/a
27	chr16:48190013-48190063	SKMC	muscle:	n/a
28	chr16:48190013-48190063	GM06990	blood:	n/a
29	chr16:48190013-48190063	MCF-7	breast:	n/a
30	chr16:48190013-48190063	GM12891	blood:	n/a
31	chr16:48190013-48190063	HRPEpiC	eye:	n/a
32	chr16:48190013-48190063	PFSK-1	brain:	n/a
33	chr16:48190013-48190063	HRE	kidney:	n/a
34	chr16:48190013-48190063	BJ	skin:	n/a
35	chr16:48190013-48190063	NHDF-neo	bronchial:	n/a
36	chr16:48190013-48190063	HL-60	blood:	n/a
37	chr16:48190013-48190063	HepG2	liver:	n/a
38	chr16:48190013-48190063	GM12892	blood:	n/a
39	chr16:48190013-48190063	IMR90	lung:	fetal
40	chr16:48190013-48190063	K562	blood:	n/a
41	chr16:48190013-48190063	A549	lung:	n/a
42	chr16:48190013-48190063	NT2-D1	testis:	n/a
43	chr16:48190013-48190063	Caco-2	colon:	n/a
44	chr16:48190013-48190063	NH-A	brain:	n/a
45	chr16:48190013-48190063	SK-N-MC	brain:	n/a
46	chr16:48190013-48190063	HUVEC	blood vessel:	n/a
47	chr16:48190013-48190063	LNCaP	prostate:	n/a
48	chr16:48190013-48190063	GM12878	blood:	n/a
49	chr16:48190013-48190063	HRCEpiC	kidney:	n/a
50	chr16:48190013-48190063	HCF	heart:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr16:48151208..48152156-chr16:48190003..48191037,5	MCF-7	breast:
2	chr16:48160028..48160849-chr16:48189962..48191269,4	MCF-7	breast:
3	chr16:47005880..47007672-chr16:48188502..48190685,2	K562	blood:

No data

Variant related genes	Relation type
ABCC12	CpG island
ENSG00000069345	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10163354	0.92[ASN][1000 genomes]
rs10163462	0.92[ASN][1000 genomes]
rs11861031	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11861127	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11863133	0.85[ASN][1000 genomes]
rs11863233	0.85[ASN][1000 genomes]
rs11863236	0.85[ASN][1000 genomes]
rs11863325	0.92[ASN][1000 genomes]
rs11866251	0.92[ASN][1000 genomes]
rs11866312	0.85[ASN][1000 genomes]
rs11866529	0.85[ASN][1000 genomes]
rs16945869	0.85[EUR][1000 genomes]
rs16945874	0.85[EUR][1000 genomes]
rs16945916	0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs16945917	0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs16945919	0.92[ASN][1000 genomes]
rs16945972	0.85[ASN][1000 genomes]
rs17743256	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28376623	0.85[ASN][1000 genomes]
rs28503414	0.85[ASN][1000 genomes]
rs28626252	0.85[ASN][1000 genomes]
rs28654935	0.85[ASN][1000 genomes]
rs28684834	0.85[ASN][1000 genomes]
rs28696036	0.85[ASN][1000 genomes]
rs41280937	0.85[EUR][1000 genomes]
rs41280939	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5017203	0.85[ASN][1000 genomes]
rs57889627	0.85[EUR][1000 genomes]
rs57912486	0.92[ASN][1000 genomes]
rs61450339	0.85[EUR][1000 genomes]
rs62058521	0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs62058522	0.92[ASN][1000 genomes]
rs62058526	0.92[ASN][1000 genomes]
rs62058528	0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6500330	0.85[EUR][1000 genomes]
rs6500339	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7184831	0.92[ASN][1000 genomes]
rs7187233	0.92[ASN][1000 genomes]
rs7191844	0.92[ASN][1000 genomes]
rs7193531	0.85[EUR][1000 genomes]
rs7203695	0.92[ASN][1000 genomes]
rs7206909	0.92[ASN][1000 genomes]
rs73540901	0.85[ASN][1000 genomes]
rs73542903	0.85[ASN][1000 genomes]
rs73542904	0.85[ASN][1000 genomes]
rs74018266	0.85[EUR][1000 genomes]
rs74018300	0.92[ASN][1000 genomes]
rs8046814	0.85[ASN][1000 genomes]
rs8047091	0.85[ASN][1000 genomes]
rs8049005	0.85[EUR][1000 genomes]
rs8050120	0.92[ASN][1000 genomes]
rs8051016	0.85[ASN][1000 genomes]
rs8051205	0.85[ASN][1000 genomes]
rs8052732	0.85[EUR][1000 genomes]
rs8057475	0.85[ASN][1000 genomes]
rs8058341	0.85[EUR][1000 genomes]
rs8058522	0.85[EUR][1000 genomes]
rs8062222	0.85[EUR][1000 genomes]
rs8062641	0.85[EUR][1000 genomes]
rs957881	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9932850	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	nsv1059259	chr16:48113396-48304404	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv542916	chr16:48113396-48304404	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48186600-48190800	Enhancers	Fetal Brain Male	brain
2	chr16:48189000-48190400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:48189000-48190800	Enhancers	Left Ventricle	heart
4	chr16:48189600-48190400	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr16:48189600-48191000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr16:48189600-48191000	Enhancers	Lung	lung
7	chr16:48189600-48193200	Enhancers	A549	lung
8	chr16:48189800-48190200	Bivalent Enhancer	Adipose Nuclei	Adipose
9	chr16:48189800-48190400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr16:48189800-48190800	Enhancers	Fetal Brain Female	brain
11	chr16:48189800-48190800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr16:48190000-48190800	Enhancers	Right Atrium	heart

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