Variant report

Variant	rs812721
Chromosome Location	chr2:209029818-209029819
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr2:209029803-209030130	IMR90	lung:	n/a	chr2:209029987-209030001 chr2:209029979-209029999 chr2:209029984-209030000 chr2:209029988-209029999 chr2:209029981-209029997 chr2:209029982-209029996 chr2:209029984-209029999 chr2:209029988-209029999

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:209029782-209029832	RPTEC	kidney:	n/a
2	chr2:209029782-209029832	AG09309	skin:	n/a
3	chr2:209029782-209029832	AG04449	skin:	fetal
4	chr2:209029782-209029832	HCPEpiC	choroid plexus:	n/a
5	chr2:209029782-209029832	HEK293	kidney:	embryo
6	chr2:209029782-209029832	AG09319	gingival:	n/a
7	chr2:209029782-209029832	Jurkat	blood:	n/a
8	chr2:209029782-209029832	BJ	skin:	n/a
9	chr2:209029782-209029832	Hela-S3	cervix:	n/a
10	chr2:209029782-209029832	NHDF-neo	bronchial:	n/a
11	chr2:209029782-209029832	AG04450	lung:	fetal
12	chr2:209029782-209029832	A549	lung:	n/a
13	chr2:209029782-209029832	CMK	blood:	n/a
14	chr2:209029782-209029832	MCF-7	breast:	n/a
15	chr2:209029782-209029832	U87	brain:	n/a
16	chr2:209029782-209029832	ProgFib	skin:	n/a
17	chr2:209029782-209029832	PFSK-1	brain:	n/a
18	chr2:209029782-209029832	AG10803	skin:	n/a
19	chr2:209029782-209029832	Caco-2	colon:	n/a
20	chr2:209029782-209029832	SK-N-MC	brain:	n/a
21	chr2:209029782-209029832	HEEpiC	esophagus:	n/a
22	chr2:209029782-209029832	HRPEpiC	eye:	n/a
23	chr2:209029782-209029832	HRE	kidney:	n/a
24	chr2:209029782-209029832	SK-N-SH	brain:	n/a
25	chr2:209029782-209029832	T-47D	breast:	n/a
26	chr2:209029782-209029832	NT2-D1	testis:	n/a
27	chr2:209029782-209029832	SK-N-SH_RA	brain:	n/a
28	chr2:209029782-209029832	SAEC	small airway:	n/a
29	chr2:209029782-209029832	HCF	heart:	n/a
30	chr2:209029782-209029832	NB4	blood:	n/a
31	chr2:209029782-209029832	ECC-1	luminal epithelium:	n/a
32	chr2:209029782-209029832	SKMC	muscle:	n/a
33	chr2:209029782-209029832	PANC-1	pancreas:	n/a
34	chr2:209029782-209029832	PrEC	prostate:	n/a
35	chr2:209029782-209029832	BE2_C	brain:	n/a
36	chr2:209029782-209029832	GM12878	blood:	n/a
37	chr2:209029782-209029832	GM12892	blood:	n/a
38	chr2:209029782-209029832	GM19239	blood:	n/a
39	chr2:209029782-209029832	HRCEpiC	kidney:	n/a
40	chr2:209029782-209029832	GM12891	blood:	n/a
41	chr2:209029782-209029832	IMR90	lung:	fetal
42	chr2:209029782-209029832	NH-A	brain:	n/a
43	chr2:209029782-209029832	K562	blood:	n/a
44	chr2:209029782-209029832	ovcar-3	ovarian:	n/a
45	chr2:209029782-209029832	HNPCEpiC	eye:	n/a
46	chr2:209029782-209029832	HPAEpiC	pulmonary alveolar:	n/a
47	chr2:209029782-209029832	HUVEC	blood vessel:	n/a
48	chr2:209029782-209029832	H1-hESC	embryonic stem cell:	embryo
49	chr2:209029782-209029832	GM06990	blood:	n/a
50	chr2:209029782-209029832	AoSMC	blood vessel:	n/a

No data

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

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10190693	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13414543	0.85[ASN][1000 genomes]
rs2121268	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2123291	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28590668	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs796278	0.91[ASN][1000 genomes]
rs796279	0.97[ASN][1000 genomes]
rs796280	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs796281	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv875747	chr2:208990345-209042963	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv875748	chr2:208994399-209033557	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv584298	chr2:209021232-209052303	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv584299	chr2:209021232-209067051	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv875749	chr2:209022909-209062388	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv875750	chr2:209022909-209069303	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209028200-209030400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:209028200-209030600	Enhancers	Fetal Brain Female	brain
3	chr2:209028200-209031800	Enhancers	Fetal Brain Male	brain
4	chr2:209028200-209033200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:209028600-209031600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:209028600-209033400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:209028600-209040400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:209028800-209034800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:209029800-209040000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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