Variant report

Variant	rs34252721
Chromosome Location	chr2:208989581-208989582
allele	A/G
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:1)
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	chr2:208989579-208989629	AoSMC	blood vessel:	n/a
2	chr2:208989579-208989629	HL-60	blood:	n/a
3	chr2:208989579-208989629	NH-A	brain:	n/a
4	chr2:208989579-208989629	A549	lung:	n/a
5	chr2:208989579-208989629	CMK	blood:	n/a
6	chr2:208989579-208989629	ovcar-3	ovarian:	n/a
7	chr2:208989579-208989629	RPTEC	kidney:	n/a
8	chr2:208989579-208989629	GM12878	blood:	n/a
9	chr2:208989579-208989629	IMR90	lung:	fetal
10	chr2:208989579-208989629	AG10803	skin:	n/a
11	chr2:208989579-208989629	HNPCEpiC	eye:	n/a
12	chr2:208989579-208989629	U87	brain:	n/a
13	chr2:208989579-208989629	LNCaP	prostate:	n/a
14	chr2:208989579-208989629	HAEpiC	amniotic membrane:	n/a
15	chr2:208989579-208989629	HRCEpiC	kidney:	n/a
16	chr2:208989579-208989629	SK-N-SH_RA	brain:	n/a
17	chr2:208989579-208989629	HCM	heart:	n/a
18	chr2:208989579-208989629	AG04450	lung:	fetal
19	chr2:208989579-208989629	NB4	blood:	n/a
20	chr2:208989579-208989629	HMEC	breast:	n/a
21	chr2:208989579-208989629	GM19239	blood:	n/a
22	chr2:208989579-208989629	AG09309	skin:	n/a
23	chr2:208989579-208989629	BE2_C	brain:	n/a
24	chr2:208989579-208989629	BJ	skin:	n/a
25	chr2:208989579-208989629	HepG2	liver:	n/a
26	chr2:208989579-208989629	Hepatocyte	liver:	n/a
27	chr2:208989579-208989629	HCT-116	colon:	n/a
28	chr2:208989579-208989629	K562	blood:	n/a
29	chr2:208989579-208989629	SAEC	small airway:	n/a
30	chr2:208989579-208989629	GM12891	blood:	n/a
31	chr2:208989579-208989629	HCPEpiC	choroid plexus:	n/a
32	chr2:208989579-208989629	ProgFib	skin:	n/a
33	chr2:208989579-208989629	H1-hESC	embryonic stem cell:	embryo
34	chr2:208989579-208989629	HRE	kidney:	n/a
35	chr2:208989579-208989629	HEK293	kidney:	embryo
36	chr2:208989579-208989629	SK-N-MC	brain:	n/a
37	chr2:208989579-208989629	Jurkat	blood:	n/a
38	chr2:208989579-208989629	SK-N-SH	brain:	n/a
39	chr2:208989579-208989629	NT2-D1	testis:	n/a
40	chr2:208989579-208989629	GM06990	blood:	n/a
41	chr2:208989579-208989629	GM12892	blood:	n/a
42	chr2:208989579-208989629	MCF-7	breast:	n/a
43	chr2:208989579-208989629	PFSK-1	brain:	n/a
44	chr2:208989579-208989629	HIPEpiC	eye:	n/a
45	chr2:208989579-208989629	HCF	heart:	n/a
46	chr2:208989579-208989629	SKMC	muscle:	n/a
47	chr2:208989579-208989629	HUVEC	blood vessel:	n/a
48	chr2:208989579-208989629	ECC-1	luminal epithelium:	n/a
49	chr2:208989579-208989629	PANC-1	pancreas:	n/a
50	chr2:208989579-208989629	Hela-S3	cervix:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:208989109..208991585-chr2:208994453..208996077,2	K562	blood:

No data

Variant related genes	Relation type
CRYGD	CpG island
ENSG00000163254	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1020581	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10497893	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11677829	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13034094	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2601492	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2601493	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2601494	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2601495	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2854722	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34126491	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34577840	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34765959	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35960349	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55770589	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55999272	0.83[EUR][1000 genomes]
rs6709879	0.85[AMR][1000 genomes]
rs6751131	0.96[AMR][1000 genomes];0.94[EUR][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	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	nsv875744	chr2:208952810-208994045	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv875745	chr2:208969865-208994045	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv875746	chr2:208971007-208989708	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208984600-208994200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:208988200-208990400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:208988400-208989600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:208988400-208989800	Active TSS	Fetal Brain Female	brain
5	chr2:208988400-208990000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:208988600-208989600	Active TSS	Fetal Brain Male	brain
7	chr2:208988600-208989600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
8	chr2:208988600-208989800	Active TSS	Brain Anterior Caudate	brain
9	chr2:208988800-208989600	Active TSS	H1 Cell Line	embryonic stem cell
10	chr2:208988800-208989600	Bivalent Enhancer	Primary B cells from cord blood	blood
11	chr2:208988800-208989600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
12	chr2:208988800-208989600	Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr2:208988800-208989600	Active TSS	Brain Germinal Matrix	brain
14	chr2:208988800-208989600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:208988800-208989800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
16	chr2:208988800-208989800	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr2:208989000-208989600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
18	chr2:208989000-208989600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
19	chr2:208989000-208989600	Active TSS	Brain Substantia Nigra	brain
20	chr2:208989200-208989600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr2:208989200-208989600	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr2:208989200-208989600	Bivalent Enhancer	Fetal Thymus	thymus
23	chr2:208989200-208989600	Enhancers	Psoas Muscle	Psoas
24	chr2:208989200-208989800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:208989400-208989600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr2:208989400-208989600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr2:208989400-208989600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
28	chr2:208989400-208989600	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr2:208989400-208989600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:208989400-208989600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:208989400-208989800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr2:208989400-208989800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
33	chr2:208989400-208990800	Enhancers	Fetal Intestine Large	intestine
34	chr2:208989400-208990800	Enhancers	Fetal Intestine Small	intestine
35	chr2:208989400-208999800	Weak transcription	Pancreas	Pancrea

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