Variant report

Variant	rs13006293
Chromosome Location	chr2:209128591-209128592
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:5)
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	chr2:209128590-209128640	GM06990	blood:	n/a
2	chr2:209128590-209128640	Caco-2	colon:	n/a
3	chr2:209128590-209128640	SK-N-SH	brain:	n/a
4	chr2:209128590-209128640	PrEC	prostate:	n/a
5	chr2:209128590-209128640	PANC-1	pancreas:	n/a
6	chr2:209128590-209128640	U87	brain:	n/a
7	chr2:209128590-209128640	MCF-7	breast:	n/a
8	chr2:209128590-209128640	SK-N-SH_RA	brain:	n/a
9	chr2:209128590-209128640	SK-N-MC	brain:	n/a
10	chr2:209128590-209128640	LNCaP	prostate:	n/a
11	chr2:209128590-209128640	HCT-116	colon:	n/a
12	chr2:209128590-209128640	GM12892	blood:	n/a
13	chr2:209128590-209128640	HPAEpiC	pulmonary alveolar:	n/a
14	chr2:209128590-209128640	MCF10A-Er-Src	breast:	n/a
15	chr2:209128590-209128640	GM12878	blood:	n/a
16	chr2:209128590-209128640	HAEpiC	amniotic membrane:	n/a
17	chr2:209128590-209128640	ProgFib	skin:	n/a
18	chr2:209128590-209128640	SAEC	small airway:	n/a
19	chr2:209128590-209128640	HRPEpiC	eye:	n/a
20	chr2:209128590-209128640	AG09309	skin:	n/a
21	chr2:209128590-209128640	Jurkat	blood:	n/a
22	chr2:209128590-209128640	PFSK-1	brain:	n/a
23	chr2:209128590-209128640	NH-A	brain:	n/a
24	chr2:209128590-209128640	AG04450	lung:	fetal
25	chr2:209128590-209128640	NHBE	bronchial:	n/a
26	chr2:209128590-209128640	NT2-D1	testis:	n/a
27	chr2:209128590-209128640	HCM	heart:	n/a
28	chr2:209128590-209128640	GM12891	blood:	n/a
29	chr2:209128590-209128640	AoSMC	blood vessel:	n/a
30	chr2:209128590-209128640	AG10803	skin:	n/a
31	chr2:209128590-209128640	HEEpiC	esophagus:	n/a
32	chr2:209128590-209128640	HepG2	liver:	n/a
33	chr2:209128590-209128640	NHDF-neo	bronchial:	n/a
34	chr2:209128590-209128640	H1-hESC	embryonic stem cell:	embryo
35	chr2:209128590-209128640	NB4	blood:	n/a
36	chr2:209128590-209128640	SKMC	muscle:	n/a
37	chr2:209128590-209128640	HL-60	blood:	n/a
38	chr2:209128590-209128640	AG04449	skin:	fetal
39	chr2:209128590-209128640	CMK	blood:	n/a
40	chr2:209128590-209128640	HRCEpiC	kidney:	n/a
41	chr2:209128590-209128640	T-47D	breast:	n/a
42	chr2:209128590-209128640	HEK293	kidney:	embryo
43	chr2:209128590-209128640	ovcar-3	ovarian:	n/a
44	chr2:209128590-209128640	RPTEC	kidney:	n/a
45	chr2:209128590-209128640	A549	lung:	n/a
46	chr2:209128590-209128640	HRE	kidney:	n/a
47	chr2:209128590-209128640	HCF	heart:	n/a
48	chr2:209128590-209128640	K562	blood:	n/a
49	chr2:209128590-209128640	GM19239	blood:	n/a
50	chr2:209128590-209128640	AG09319	gingival:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:208393863..208396191-chr2:209128319..209130637,2	K562	blood:
2	chr2:209123964..209126958-chr2:209128019..209130689,2	K562	blood:
3	chr2:209128359..209130743-chr2:209169171..209171063,2	K562	blood:
4	chr2:209116323..209122695-chr2:209127326..209132568,14	K562	blood:
5	chr2:209116323..209123332-chr2:209127326..209134005,17	K562	blood:

No data

Variant related genes	Relation type
PIKFYVE	CpG island
ENSG00000138413	Chromatin interaction
ENSG00000223725	Chromatin interaction
ENSG00000231908	Chromatin interaction
ENSG00000118260	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4673385	0.80[AFR][1000 genomes]
rs6435436	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS 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	26 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209120800-209129800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr2:209121200-209129600	Weak transcription	Left Ventricle	heart
3	chr2:209122200-209129600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:209122400-209129600	Weak transcription	Brain Substantia Nigra	brain
5	chr2:209122600-209129400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:209122600-209129600	Weak transcription	Brain Angular Gyrus	brain
7	chr2:209122800-209129600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:209122800-209129600	Weak transcription	Fetal Intestine Small	intestine
9	chr2:209122800-209129600	Weak transcription	Fetal Lung	lung
10	chr2:209123200-209129800	Weak transcription	Fetal Heart	heart
11	chr2:209127600-209129600	Weak transcription	Primary T cells from cord blood	blood
12	chr2:209127800-209128800	Weak transcription	HepG2	liver

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