Variant report

Variant	rs72857606
Chromosome Location	chr2:31378999-31379000
allele	C/G/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: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	chr2:31378999-31379049	ProgFib	skin:	n/a
2	chr2:31378999-31379049	HCM	heart:	n/a
3	chr2:31378999-31379049	T-47D	breast:	n/a
4	chr2:31378999-31379049	SK-N-SH_RA	brain:	n/a
5	chr2:31378999-31379049	HL-60	blood:	n/a
6	chr2:31378999-31379049	HEK293	kidney:	embryo
7	chr2:31378999-31379049	U87	brain:	n/a
8	chr2:31378999-31379049	HCF	heart:	n/a
9	chr2:31378999-31379049	ovcar-3	ovarian:	n/a
10	chr2:31378999-31379049	HRE	kidney:	n/a
11	chr2:31378999-31379049	CMK	blood:	n/a
12	chr2:31378999-31379049	NHDF-neo	bronchial:	n/a
13	chr2:31378999-31379049	NT2-D1	testis:	n/a
14	chr2:31378999-31379049	AG04449	skin:	fetal
15	chr2:31378999-31379049	HAEpiC	amniotic membrane:	n/a
16	chr2:31378999-31379049	Caco-2	colon:	n/a
17	chr2:31378999-31379049	HNPCEpiC	eye:	n/a
18	chr2:31378999-31379049	HCPEpiC	choroid plexus:	n/a
19	chr2:31378999-31379049	AoSMC	blood vessel:	n/a
20	chr2:31378999-31379049	HCT-116	colon:	n/a
21	chr2:31378999-31379049	ECC-1	luminal epithelium:	n/a
22	chr2:31378999-31379049	SAEC	small airway:	n/a
23	chr2:31378999-31379049	HIPEpiC	eye:	n/a
24	chr2:31378999-31379049	GM12891	blood:	n/a
25	chr2:31378999-31379049	AG09319	gingival:	n/a
26	chr2:31378999-31379049	GM06990	blood:	n/a
27	chr2:31378999-31379049	Jurkat	blood:	n/a
28	chr2:31378999-31379049	LNCaP	prostate:	n/a
29	chr2:31378999-31379049	HMEC	breast:	n/a
30	chr2:31378999-31379049	NH-A	brain:	n/a
31	chr2:31378999-31379049	HEEpiC	esophagus:	n/a
32	chr2:31378999-31379049	HRPEpiC	eye:	n/a
33	chr2:31378999-31379049	PFSK-1	brain:	n/a
34	chr2:31378999-31379049	PANC-1	pancreas:	n/a
35	chr2:31378999-31379049	NHBE	bronchial:	n/a
36	chr2:31378999-31379049	H1-hESC	embryonic stem cell:	embryo
37	chr2:31378999-31379049	PrEC	prostate:	n/a
38	chr2:31378999-31379049	IMR90	lung:	fetal
39	chr2:31378999-31379049	BE2_C	brain:	n/a
40	chr2:31378999-31379049	MCF10A-Er-Src	breast:	n/a
41	chr2:31378999-31379049	GM12878	blood:	n/a
42	chr2:31378999-31379049	GM12892	blood:	n/a
43	chr2:31378999-31379049	SK-N-SH	brain:	n/a
44	chr2:31378999-31379049	HPAEpiC	pulmonary alveolar:	n/a
45	chr2:31378999-31379049	GM19239	blood:	n/a
46	chr2:31378999-31379049	AG09309	skin:	n/a
47	chr2:31378999-31379049	K562	blood:	n/a
48	chr2:31378999-31379049	SKMC	muscle:	n/a
49	chr2:31378999-31379049	AG04450	lung:	fetal
50	chr2:31378999-31379049	HRCEpiC	kidney:	n/a

No data

Variant related genes	Relation type
GALNT14	CpG island

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs61603879	0.94[AFR][1000 genomes]
rs6718505	0.94[AFR][1000 genomes]
rs72856367	0.92[AFR][1000 genomes]
rs72856373	0.94[AFR][1000 genomes]
rs72856375	0.94[AFR][1000 genomes]
rs72856377	0.82[AFR][1000 genomes]
rs72856379	0.94[AFR][1000 genomes]
rs72856381	0.94[AFR][1000 genomes]
rs72857603	1.00[AFR][1000 genomes]
rs745523	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv873771	chr2:31363732-31416582	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv873772	chr2:31363732-31417863	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv873773	chr2:31363732-31426449	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv873774	chr2:31363732-31432367	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv873775	chr2:31363732-31439443	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr2:31377800-31379000	Enhancers	A549	lung
2	chr2:31378400-31380800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:31378800-31383200	Weak transcription	Fetal Brain Male	brain

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