Variant report

Variant	rs2097924
Chromosome Location	chr8:1496365-1496366
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:1493405-1496582	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr8:1494078-1507692	PFSK-1	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:1496347-1496397	HRE	kidney:	n/a
2	chr8:1496347-1496397	HepG2	liver:	n/a
3	chr8:1496347-1496397	K562	blood:	n/a
4	chr8:1496347-1496397	NHBE	bronchial:	n/a
5	chr8:1496347-1496397	AG09319	gingival:	n/a
6	chr8:1496347-1496397	NHDF-neo	bronchial:	n/a
7	chr8:1496347-1496397	HRCEpiC	kidney:	n/a
8	chr8:1496347-1496397	MCF-7	breast:	n/a
9	chr8:1496347-1496397	PANC-1	pancreas:	n/a
10	chr8:1496347-1496397	AG09309	skin:	n/a
11	chr8:1496347-1496397	GM12878	blood:	n/a
12	chr8:1496347-1496397	T-47D	breast:	n/a
13	chr8:1496347-1496397	HCF	heart:	n/a
14	chr8:1496347-1496397	SK-N-SH_RA	brain:	n/a
15	chr8:1496347-1496397	AoSMC	blood vessel:	n/a
16	chr8:1496347-1496397	SKMC	muscle:	n/a
17	chr8:1496347-1496397	H1-hESC	embryonic stem cell:	embryo
18	chr8:1496347-1496397	ECC-1	luminal epithelium:	n/a
19	chr8:1496347-1496397	Caco-2	colon:	n/a
20	chr8:1496347-1496397	Hela-S3	cervix:	n/a
21	chr8:1496347-1496397	RPTEC	kidney:	n/a
22	chr8:1496347-1496397	HUVEC	blood vessel:	n/a
23	chr8:1496347-1496397	HEEpiC	esophagus:	n/a
24	chr8:1496347-1496397	LNCaP	prostate:	n/a
25	chr8:1496347-1496397	GM06990	blood:	n/a
26	chr8:1496347-1496397	A549	lung:	n/a
27	chr8:1496347-1496397	Jurkat	blood:	n/a
28	chr8:1496347-1496397	HCM	heart:	n/a
29	chr8:1496347-1496397	Hepatocyte	liver:	n/a
30	chr8:1496347-1496397	NT2-D1	testis:	n/a
31	chr8:1496347-1496397	NH-A	brain:	n/a
32	chr8:1496347-1496397	HAEpiC	amniotic membrane:	n/a
33	chr8:1496347-1496397	SAEC	small airway:	n/a
34	chr8:1496347-1496397	HCT-116	colon:	n/a
35	chr8:1496347-1496397	HL-60	blood:	n/a
36	chr8:1496347-1496397	GM12891	blood:	n/a
37	chr8:1496347-1496397	PrEC	prostate:	n/a
38	chr8:1496347-1496397	CMK	blood:	n/a
39	chr8:1496347-1496397	SK-N-MC	brain:	n/a
40	chr8:1496347-1496397	IMR90	lung:	fetal
41	chr8:1496347-1496397	ovcar-3	ovarian:	n/a
42	chr8:1496347-1496397	HCPEpiC	choroid plexus:	n/a
43	chr8:1496347-1496397	GM12892	blood:	n/a
44	chr8:1496347-1496397	HNPCEpiC	eye:	n/a
45	chr8:1496347-1496397	HEK293	kidney:	embryo
46	chr8:1496347-1496397	PFSK-1	brain:	n/a
47	chr8:1496347-1496397	NB4	blood:	n/a
48	chr8:1496347-1496397	HMEC	breast:	n/a
49	chr8:1496347-1496397	MCF10A-Er-Src	breast:	n/a
50	chr8:1496347-1496397	HPAEpiC	pulmonary alveolar:	n/a

No data

Variant related genes	Relation type
DLGAP2	TF binding region
DLGAP2	CpG island

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10099335	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10112065	0.90[ASN][1000 genomes]
rs10113083	0.84[ASN][1000 genomes]
rs11136406	0.82[ASN][1000 genomes]
rs11136407	0.82[ASN][1000 genomes]
rs12156177	0.80[ASN][1000 genomes]
rs13258821	0.82[ASN][1000 genomes]
rs13271550	0.82[ASN][1000 genomes]
rs2214861	0.84[ASN][1000 genomes]
rs2404620	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2404621	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2404622	0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2906567	0.80[ASN][1000 genomes]
rs2906568	0.86[ASN][1000 genomes]
rs2906569	0.81[ASN][1000 genomes]
rs35592989	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3812479	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3812480	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs56394442	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6994849	0.84[ASN][1000 genomes]
rs7002450	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028487	chr8:674077-1642737	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv429833	chr8:720491-1514173	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv932163	chr8:977218-1628286	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv949592	chr8:1108087-1561756	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1026673	chr8:1142469-1679673	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv889697	chr8:1238564-1861971	Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv609509	chr8:1301110-1589888	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1031375	chr8:1320657-1722050	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv469881	chr8:1374637-1561949	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv427811	chr8:1400816-1676653	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv889702	chr8:1457884-1507521	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv1796972	chr8:1492839-1501992	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
13	nsv609520	chr8:1495947-1510448	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1487000-1505200	Weak transcription	Fetal Brain Female	brain
2	chr8:1494600-1497200	Weak transcription	Brain Germinal Matrix	brain
3	chr8:1495200-1496800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:1495800-1496800	Weak transcription	Spleen	Spleen
5	chr8:1495800-1500200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:1496000-1501200	Weak transcription	Brain Cingulate Gyrus	brain

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