Variant report

Variant	rs74061442
Chromosome Location	chr14:70264907-70264908
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	chr14:70264869-70264919	BE2_C	brain:	n/a
2	chr14:70264869-70264919	AG04449	skin:	fetal
3	chr14:70264869-70264919	HMEC	breast:	n/a
4	chr14:70264869-70264919	HIPEpiC	eye:	n/a
5	chr14:70264869-70264919	PFSK-1	brain:	n/a
6	chr14:70264869-70264919	HEEpiC	esophagus:	n/a
7	chr14:70264869-70264919	NH-A	brain:	n/a
8	chr14:70264869-70264919	NT2-D1	testis:	n/a
9	chr14:70264869-70264919	Hela-S3	cervix:	n/a
10	chr14:70264869-70264919	NHDF-neo	bronchial:	n/a
11	chr14:70264869-70264919	AG09309	skin:	n/a
12	chr14:70264869-70264919	HUVEC	blood vessel:	n/a
13	chr14:70264869-70264919	CMK	blood:	n/a
14	chr14:70264869-70264919	HCM	heart:	n/a
15	chr14:70264869-70264919	K562	blood:	n/a
16	chr14:70264869-70264919	HAEpiC	amniotic membrane:	n/a
17	chr14:70264869-70264919	SK-N-MC	brain:	n/a
18	chr14:70264869-70264919	HRPEpiC	eye:	n/a
19	chr14:70264869-70264919	HNPCEpiC	eye:	n/a
20	chr14:70264869-70264919	AG10803	skin:	n/a
21	chr14:70264869-70264919	RPTEC	kidney:	n/a
22	chr14:70264869-70264919	NB4	blood:	n/a
23	chr14:70264869-70264919	Caco-2	colon:	n/a
24	chr14:70264869-70264919	AG09319	gingival:	n/a
25	chr14:70264869-70264919	SK-N-SH_RA	brain:	n/a
26	chr14:70264869-70264919	MCF10A-Er-Src	breast:	n/a
27	chr14:70264869-70264919	T-47D	breast:	n/a
28	chr14:70264869-70264919	U87	brain:	n/a
29	chr14:70264869-70264919	SKMC	muscle:	n/a
30	chr14:70264869-70264919	ovcar-3	ovarian:	n/a
31	chr14:70264869-70264919	HCF	heart:	n/a
32	chr14:70264869-70264919	PANC-1	pancreas:	n/a
33	chr14:70264869-70264919	ECC-1	luminal epithelium:	n/a
34	chr14:70264869-70264919	AoSMC	blood vessel:	n/a
35	chr14:70264869-70264919	Hepatocyte	liver:	n/a
36	chr14:70264869-70264919	HEK293	kidney:	embryo
37	chr14:70264869-70264919	GM12891	blood:	n/a
38	chr14:70264869-70264919	AG04450	lung:	fetal
39	chr14:70264869-70264919	HCPEpiC	choroid plexus:	n/a
40	chr14:70264869-70264919	HRE	kidney:	n/a
41	chr14:70264869-70264919	A549	lung:	n/a
42	chr14:70264869-70264919	HRCEpiC	kidney:	n/a
43	chr14:70264869-70264919	GM12892	blood:	n/a
44	chr14:70264869-70264919	BJ	skin:	n/a
45	chr14:70264869-70264919	HCT-116	colon:	n/a
46	chr14:70264869-70264919	GM06990	blood:	n/a
47	chr14:70264869-70264919	PrEC	prostate:	n/a
48	chr14:70264869-70264919	SK-N-SH	brain:	n/a
49	chr14:70264869-70264919	GM12878	blood:	n/a
50	chr14:70264869-70264919	GM19239	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr14:70232739..70236319-chr14:70264002..70267714,4	MCF-7	breast:
2	chr14:70261200..70263802-chr14:70264379..70267059,2	MCF-7	breast:
3	chr14:70264666..70266507-chr14:70268472..70271032,2	MCF-7	breast:

No data

Variant related genes	Relation type
SLC10A1	CpG island
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55668218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55677947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59017109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59710581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59781261	1.00[AMR][1000 genomes]
rs60048839	1.00[AMR][1000 genomes]
rs73283370	1.00[AMR][1000 genomes]
rs73285222	1.00[AMR][1000 genomes]
rs74060478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060497	1.00[AMR][1000 genomes]
rs74060550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061428	1.00[AMR][1000 genomes]
rs74061431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061434	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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70248200-70271600	Weak transcription	Psoas Muscle	Psoas
2	chr14:70254200-70265800	Weak transcription	Spleen	Spleen
3	chr14:70254800-70275600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:70263400-70265000	Enhancers	Fetal Intestine Large	intestine
5	chr14:70263400-70265000	Enhancers	Lung	lung
6	chr14:70263400-70265400	Enhancers	Placenta	Placenta
7	chr14:70263600-70265000	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr14:70263600-70265200	Enhancers	Stomach Mucosa	stomach
9	chr14:70264000-70265000	Flanking Active TSS	Liver	Liver
10	chr14:70264000-70265000	Weak transcription	Gastric	stomach
11	chr14:70264000-70265200	Enhancers	Fetal Intestine Small	intestine
12	chr14:70264000-70265200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr14:70264000-70265800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr14:70264200-70265200	Enhancers	Colonic Mucosa	Colon
15	chr14:70264400-70265000	Enhancers	Esophagus	oesophagus
16	chr14:70264600-70265000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:70264600-70266000	Enhancers	HepG2	liver
18	chr14:70264800-70265000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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