Variant report

Variant	rs149749893
Chromosome Location	chr5:17212837-17212838
allele	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	chr5:17212832-17212882	MCF-7	breast:	n/a
2	chr5:17212832-17212882	Caco-2	colon:	n/a
3	chr5:17212832-17212882	NHDF-neo	bronchial:	n/a
4	chr5:17212832-17212882	Hepatocyte	liver:	n/a
5	chr5:17212832-17212882	HEK293	kidney:	embryo
6	chr5:17212832-17212882	HepG2	liver:	n/a
7	chr5:17212832-17212882	H1-hESC	embryonic stem cell:	embryo
8	chr5:17212832-17212882	CMK	blood:	n/a
9	chr5:17212832-17212882	HIPEpiC	eye:	n/a
10	chr5:17212832-17212882	HNPCEpiC	eye:	n/a
11	chr5:17212832-17212882	AG04449	skin:	fetal
12	chr5:17212832-17212882	HRE	kidney:	n/a
13	chr5:17212832-17212882	HUVEC	blood vessel:	n/a
14	chr5:17212832-17212882	GM12891	blood:	n/a
15	chr5:17212832-17212882	HCM	heart:	n/a
16	chr5:17212832-17212882	Hela-S3	cervix:	n/a
17	chr5:17212832-17212882	NB4	blood:	n/a
18	chr5:17212832-17212882	SAEC	small airway:	n/a
19	chr5:17212832-17212882	PrEC	prostate:	n/a
20	chr5:17212832-17212882	T-47D	breast:	n/a
21	chr5:17212832-17212882	K562	blood:	n/a
22	chr5:17212832-17212882	HCF	heart:	n/a
23	chr5:17212832-17212882	AG10803	skin:	n/a
24	chr5:17212832-17212882	LNCaP	prostate:	n/a
25	chr5:17212832-17212882	HRPEpiC	eye:	n/a
26	chr5:17212832-17212882	GM06990	blood:	n/a
27	chr5:17212832-17212882	ProgFib	skin:	n/a
28	chr5:17212832-17212882	SKMC	muscle:	n/a
29	chr5:17212832-17212882	A549	lung:	n/a
30	chr5:17212832-17212882	MCF10A-Er-Src	breast:	n/a
31	chr5:17212832-17212882	HL-60	blood:	n/a
32	chr5:17212832-17212882	PFSK-1	brain:	n/a
33	chr5:17212832-17212882	AoSMC	blood vessel:	n/a
34	chr5:17212832-17212882	AG09319	gingival:	n/a
35	chr5:17212832-17212882	IMR90	lung:	fetal
36	chr5:17212832-17212882	BJ	skin:	n/a
37	chr5:17212832-17212882	HCT-116	colon:	n/a
38	chr5:17212832-17212882	GM19239	blood:	n/a
39	chr5:17212832-17212882	BE2_C	brain:	n/a
40	chr5:17212832-17212882	HAEpiC	amniotic membrane:	n/a
41	chr5:17212832-17212882	HPAEpiC	pulmonary alveolar:	n/a
42	chr5:17212832-17212882	GM12878	blood:	n/a
43	chr5:17212832-17212882	AG09309	skin:	n/a
44	chr5:17212832-17212882	U87	brain:	n/a
45	chr5:17212832-17212882	HCPEpiC	choroid plexus:	n/a
46	chr5:17212832-17212882	ovcar-3	ovarian:	n/a
47	chr5:17212832-17212882	NH-A	brain:	n/a
48	chr5:17212832-17212882	HRCEpiC	kidney:	n/a
49	chr5:17212832-17212882	SK-N-SH_RA	brain:	n/a
50	chr5:17212832-17212882	NHBE	bronchial:	n/a

No data

Variant related genes	Relation type
BASP1	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	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv830218	chr5:17093162-17290045	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1029959	chr5:17133214-17455995	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv4738	chr5:17178267-17223677	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv521697	chr5:17211649-17225333	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17200000-17216200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:17209600-17213600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:17210600-17213200	Weak transcription	Hela-S3	cervix
4	chr5:17211000-17213400	Enhancers	Fetal Brain Male	brain
5	chr5:17211800-17213200	Genic enhancers	A549	lung
6	chr5:17212000-17215800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:17212200-17213200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:17212200-17213200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:17212200-17213200	Active TSS	Fetal Brain Female	brain
10	chr5:17212400-17214400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr5:17212400-17215600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:17212400-17216600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:17212600-17213000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:17212600-17213000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:17212600-17213000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr5:17212600-17213000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:17212600-17213000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:17212600-17213000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:17212600-17213400	Enhancers	Stomach Mucosa	stomach

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