Variant report

Variant	rs541881045
Chromosome Location	chr2:31364468-31364469
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr2:31364118-31365582	H1-neurons	neurons:	n/a	chr2:31364929-31364942 chr2:31364929-31364942
2	POLR2A	chr2:31364455-31365482	H1-neurons	neurons:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:31364468-31364518	SK-N-SH_RA	brain:	n/a
2	chr2:31364468-31364518	BJ	skin:	n/a
3	chr2:31364468-31364518	HNPCEpiC	eye:	n/a
4	chr2:31364468-31364518	HIPEpiC	eye:	n/a
5	chr2:31364468-31364518	AG09309	skin:	n/a
6	chr2:31364468-31364518	HepG2	liver:	n/a
7	chr2:31364468-31364518	NHDF-neo	bronchial:	n/a
8	chr2:31364468-31364518	PFSK-1	brain:	n/a
9	chr2:31364468-31364518	HCF	heart:	n/a
10	chr2:31364468-31364518	NHBE	bronchial:	n/a
11	chr2:31364468-31364518	GM12878	blood:	n/a
12	chr2:31364468-31364518	SAEC	small airway:	n/a
13	chr2:31364468-31364518	LNCaP	prostate:	n/a
14	chr2:31364468-31364518	ovcar-3	ovarian:	n/a
15	chr2:31364468-31364518	HEK293	kidney:	embryo
16	chr2:31364468-31364518	HEEpiC	esophagus:	n/a
17	chr2:31364468-31364518	A549	lung:	n/a
18	chr2:31364468-31364518	PANC-1	pancreas:	n/a
19	chr2:31364468-31364518	NT2-D1	testis:	n/a
20	chr2:31364468-31364518	BE2_C	brain:	n/a
21	chr2:31364468-31364518	ECC-1	luminal epithelium:	n/a
22	chr2:31364468-31364518	AoSMC	blood vessel:	n/a
23	chr2:31364468-31364518	NB4	blood:	n/a
24	chr2:31364468-31364518	HRPEpiC	eye:	n/a
25	chr2:31364468-31364518	HRE	kidney:	n/a
26	chr2:31364468-31364518	Hela-S3	cervix:	n/a
27	chr2:31364468-31364518	T-47D	breast:	n/a
28	chr2:31364468-31364518	GM19239	blood:	n/a
29	chr2:31364468-31364518	HPAEpiC	pulmonary alveolar:	n/a
30	chr2:31364468-31364518	ProgFib	skin:	n/a
31	chr2:31364468-31364518	GM12891	blood:	n/a
32	chr2:31364468-31364518	MCF10A-Er-Src	breast:	n/a
33	chr2:31364468-31364518	U87	brain:	n/a
34	chr2:31364468-31364518	Jurkat	blood:	n/a
35	chr2:31364468-31364518	SK-N-SH	brain:	n/a
36	chr2:31364468-31364518	AG04450	lung:	fetal
37	chr2:31364468-31364518	HUVEC	blood vessel:	n/a
38	chr2:31364468-31364518	HAEpiC	amniotic membrane:	n/a
39	chr2:31364468-31364518	H1-hESC	embryonic stem cell:	embryo
40	chr2:31364468-31364518	RPTEC	kidney:	n/a
41	chr2:31364468-31364518	AG10803	skin:	n/a
42	chr2:31364468-31364518	PrEC	prostate:	n/a
43	chr2:31364468-31364518	HMEC	breast:	n/a
44	chr2:31364468-31364518	GM06990	blood:	n/a
45	chr2:31364468-31364518	HRCEpiC	kidney:	n/a
46	chr2:31364468-31364518	AG09319	gingival:	n/a
47	chr2:31364468-31364518	Caco-2	colon:	n/a
48	chr2:31364468-31364518	SK-N-MC	brain:	n/a
49	chr2:31364468-31364518	NH-A	brain:	n/a
50	chr2:31364468-31364518	HCPEpiC	choroid plexus:	n/a

No data

Variant related genes	Relation type
GALNT14	TF binding region
GALNT14	CpG island

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31360800-31365400	Enhancers	Fetal Brain Male	brain
2	chr2:31361800-31365200	Enhancers	Fetal Brain Female	brain
3	chr2:31361800-31369400	Weak transcription	Right Atrium	heart
4	chr2:31364200-31364600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:31364200-31365000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:31364200-31365200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:31364400-31365000	Enhancers	Brain Germinal Matrix	brain

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