Variant report

Variant	rs34646859
Chromosome Location	chr3:53700304-53700305
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:53700276-53700326	MCF-7	breast:	n/a
2	chr3:53700263-53700313	Jurkat	blood:	n/a
3	chr3:53700276-53700326	BE2_C	brain:	n/a
4	chr3:53700276-53700326	HRPEpiC	eye:	n/a
5	chr3:53700276-53700326	ProgFib	skin:	n/a
6	chr3:53700276-53700326	SKMC	muscle:	n/a
7	chr3:53700276-53700326	Hepatocyte	liver:	n/a
8	chr3:53700276-53700326	H1-hESC	embryonic stem cell:	embryo
9	chr3:53700276-53700326	ECC-1	luminal epithelium:	n/a
10	chr3:53700276-53700326	RPTEC	kidney:	n/a
11	chr3:53700263-53700313	HRCEpiC	kidney:	n/a
12	chr3:53700263-53700313	HCT-116	colon:	n/a
13	chr3:53700263-53700313	GM12878	blood:	n/a
14	chr3:53700276-53700326	AG04450	lung:	fetal
15	chr3:53700263-53700313	H1-hESC	embryonic stem cell:	embryo
16	chr3:53700276-53700326	HepG2	liver:	n/a
17	chr3:53700263-53700313	GM06990	blood:	n/a
18	chr3:53700276-53700326	HAEpiC	amniotic membrane:	n/a
19	chr3:53700263-53700313	HCM	heart:	n/a
20	chr3:53700263-53700313	HRPEpiC	eye:	n/a
21	chr3:53700276-53700326	U87	brain:	n/a
22	chr3:53700263-53700313	PrEC	prostate:	n/a
23	chr3:53700276-53700326	PrEC	prostate:	n/a
24	chr3:53700276-53700326	NHDF-neo	bronchial:	n/a
25	chr3:53700276-53700326	GM19239	blood:	n/a
26	chr3:53700276-53700326	PFSK-1	brain:	n/a
27	chr3:53700276-53700326	AG10803	skin:	n/a
28	chr3:53700263-53700313	HRE	kidney:	n/a
29	chr3:53700263-53700313	HL-60	blood:	n/a
30	chr3:53700276-53700326	SK-N-MC	brain:	n/a
31	chr3:53700263-53700313	CMK	blood:	n/a
32	chr3:53700263-53700313	HAEpiC	amniotic membrane:	n/a
33	chr3:53700276-53700326	HCPEpiC	choroid plexus:	n/a
34	chr3:53700263-53700313	NHBE	bronchial:	n/a
35	chr3:53700263-53700313	HEK293	kidney:	embryo
36	chr3:53700263-53700313	MCF10A-Er-Src	breast:	n/a
37	chr3:53700276-53700326	HPAEpiC	pulmonary alveolar:	n/a
38	chr3:53700276-53700326	SK-N-SH	brain:	n/a
39	chr3:53700263-53700313	HCF	heart:	n/a
40	chr3:53700263-53700313	Hepatocyte	liver:	n/a
41	chr3:53700263-53700313	SK-N-MC	brain:	n/a
42	chr3:53700276-53700326	HL-60	blood:	n/a
43	chr3:53700263-53700313	A549	lung:	n/a
44	chr3:53700276-53700326	CMK	blood:	n/a
45	chr3:53700263-53700313	PANC-1	pancreas:	n/a
46	chr3:53700276-53700326	GM12891	blood:	n/a
47	chr3:53700263-53700313	LNCaP	prostate:	n/a
48	chr3:53700263-53700313	HEEpiC	esophagus:	n/a
49	chr3:53700263-53700313	GM19239	blood:	n/a
50	chr3:53700263-53700313	NB4	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53700298..53702915-chr3:53705116..53707874,2	K562	blood:

No data

Variant related genes	Relation type
CACNA1D	CpG island
ENSG00000157388	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1380608	0.84[EUR][1000 genomes]
rs34804225	0.81[EUR][1000 genomes]
rs67291086	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1001128	chr3:53659570-53927842	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1013783	chr3:53694418-53934781	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 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	chr3:53683200-53744200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:53689600-53707400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:53692000-53707600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:53694200-53700400	Strong transcription	Fetal Intestine Large	intestine
5	chr3:53694400-53701000	Weak transcription	Fetal Kidney	kidney
6	chr3:53696800-53706600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr3:53697600-53702400	Weak transcription	Liver	Liver
8	chr3:53698000-53714000	Weak transcription	Brain Substantia Nigra	brain
9	chr3:53698800-53711200	Weak transcription	Spleen	Spleen
10	chr3:53700000-53700600	Strong transcription	Duodenum Mucosa	Duodenum
11	chr3:53700000-53700800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:53700000-53700800	Strong transcription	Pancreatic Islets	Pancreatic Islet
13	chr3:53700000-53703400	Strong transcription	Fetal Lung	lung
14	chr3:53700200-53700400	Enhancers	Lung	lung
15	chr3:53700200-53700400	Genic enhancers	Pancreas	Pancrea
16	chr3:53700200-53700800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:53700200-53700800	Strong transcription	Brain Angular Gyrus	brain
18	chr3:53700200-53701000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr3:53700200-53701000	Genic enhancers	Fetal Intestine Small	intestine

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