Variant report

Variant	rs13339247
Chromosome Location	chr16:71604052-71604053
allele	C/T
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	chr16:71604018-71604068	GM19239	blood:	n/a
2	chr16:71604018-71604068	A549	lung:	n/a
3	chr16:71604018-71604068	ProgFib	skin:	n/a
4	chr16:71604018-71604068	SK-N-MC	brain:	n/a
5	chr16:71604018-71604068	AG04449	skin:	fetal
6	chr16:71604018-71604068	RPTEC	kidney:	n/a
7	chr16:71604018-71604068	NB4	blood:	n/a
8	chr16:71604018-71604068	NHDF-neo	bronchial:	n/a
9	chr16:71604018-71604068	AG09319	gingival:	n/a
10	chr16:71604018-71604068	GM12892	blood:	n/a
11	chr16:71604018-71604068	AG09309	skin:	n/a
12	chr16:71604018-71604068	AG10803	skin:	n/a
13	chr16:71604018-71604068	BJ	skin:	n/a
14	chr16:71604018-71604068	Jurkat	blood:	n/a
15	chr16:71604018-71604068	HNPCEpiC	eye:	n/a
16	chr16:71604018-71604068	K562	blood:	n/a
17	chr16:71604018-71604068	HCPEpiC	choroid plexus:	n/a
18	chr16:71604018-71604068	CMK	blood:	n/a
19	chr16:71604018-71604068	NT2-D1	testis:	n/a
20	chr16:71604018-71604068	HRE	kidney:	n/a
21	chr16:71604018-71604068	HRCEpiC	kidney:	n/a
22	chr16:71604018-71604068	GM12891	blood:	n/a
23	chr16:71604018-71604068	SK-N-SH	brain:	n/a
24	chr16:71604018-71604068	MCF-7	breast:	n/a
25	chr16:71604018-71604068	AoSMC	blood vessel:	n/a
26	chr16:71604018-71604068	BE2_C	brain:	n/a
27	chr16:71604018-71604068	HEEpiC	esophagus:	n/a
28	chr16:71604018-71604068	HRPEpiC	eye:	n/a
29	chr16:71604018-71604068	T-47D	breast:	n/a
30	chr16:71604018-71604068	LNCaP	prostate:	n/a
31	chr16:71604018-71604068	H1-hESC	embryonic stem cell:	embryo
32	chr16:71604018-71604068	ECC-1	luminal epithelium:	n/a
33	chr16:71604018-71604068	NH-A	brain:	n/a
34	chr16:71604018-71604068	HAEpiC	amniotic membrane:	n/a
35	chr16:71604018-71604068	HL-60	blood:	n/a
36	chr16:71604018-71604068	U87	brain:	n/a
37	chr16:71604018-71604068	HCT-116	colon:	n/a
38	chr16:71604018-71604068	GM06990	blood:	n/a
39	chr16:71604018-71604068	HepG2	liver:	n/a
40	chr16:71604018-71604068	HIPEpiC	eye:	n/a
41	chr16:71604018-71604068	MCF10A-Er-Src	breast:	n/a
42	chr16:71604018-71604068	HCM	heart:	n/a
43	chr16:71604018-71604068	Hela-S3	cervix:	n/a
44	chr16:71604018-71604068	NHBE	bronchial:	n/a
45	chr16:71604018-71604068	HEK293	kidney:	embryo
46	chr16:71604018-71604068	HUVEC	blood vessel:	n/a
47	chr16:71604018-71604068	PrEC	prostate:	n/a
48	chr16:71604018-71604068	IMR90	lung:	fetal
49	chr16:71604018-71604068	ovcar-3	ovarian:	n/a
50	chr16:71604018-71604068	HMEC	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr16:71598954..71602131-chr16:71602948..71606674,3	K562	blood:
2	chr16:71596326..71598942-chr16:71602186..71604284,2	K562	blood:
3	chr16:71596888..71600063-chr16:71602973..71605498,3	MCF-7	breast:

No data

Variant related genes	Relation type
TAT	CpG island
ENSG00000260886	Chromatin interaction
ENSG00000252339	Chromatin interaction
ENSG00000157429	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11488925	1.00[EUR][1000 genomes]
rs13330482	1.00[EUR][1000 genomes]
rs13331393	1.00[EUR][1000 genomes]
rs13337136	1.00[EUR][1000 genomes]
rs13338643	0.87[AFR][1000 genomes]
rs13338868	1.00[ASW][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs16972708	1.00[EUR][1000 genomes]
rs16973325	1.00[EUR][1000 genomes]
rs16973352	1.00[EUR][1000 genomes]
rs16973364	1.00[EUR][1000 genomes]
rs28455032	1.00[EUR][1000 genomes]
rs28693064	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58909593	1.00[EUR][1000 genomes]
rs59258436	1.00[EUR][1000 genomes]
rs6499524	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7201912	1.00[EUR][1000 genomes]
rs73571723	1.00[EUR][1000 genomes]
rs73584838	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73584840	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74025967	1.00[EUR][1000 genomes]
rs8051528	1.00[EUR][1000 genomes]
rs9921203	1.00[EUR][1000 genomes]
rs9927182	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9928298	0.81[YRI][hapmap]
rs9931828	1.00[EUR][1000 genomes]
rs9939332	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer 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	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13339247	MARVELD3	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71599600-71605600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr16:71599600-71607800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr16:71600600-71606000	Weak transcription	Fetal Intestine Large	intestine
4	chr16:71600600-71606000	Weak transcription	A549	lung
5	chr16:71602400-71615400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr16:71603600-71604600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr16:71603600-71604600	Genic enhancers	Liver	Liver
8	chr16:71603600-71605800	Weak transcription	Fetal Intestine Small	intestine
9	chr16:71604000-71604200	Enhancers	Colonic Mucosa	Colon
10	chr16:71604000-71604200	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr16:71604000-71604200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
12	chr16:71604000-71604800	Genic enhancers	HepG2	liver

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