Variant report

Variant	rs36080713
Chromosome Location	chr1:175525996-175525997
allele	A/G
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	REST	chr1:175525640-175526790	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	chr1:175525986-175526036	HAEpiC	amniotic membrane:	n/a
2	chr1:175525986-175526036	ECC-1	luminal epithelium:	n/a
3	chr1:175525986-175526036	NHBE	bronchial:	n/a
4	chr1:175525986-175526036	HCT-116	colon:	n/a
5	chr1:175525986-175526036	CMK	blood:	n/a
6	chr1:175525986-175526036	ProgFib	skin:	n/a
7	chr1:175525986-175526036	RPTEC	kidney:	n/a
8	chr1:175525986-175526036	HCPEpiC	choroid plexus:	n/a
9	chr1:175525986-175526036	SK-N-SH	brain:	n/a
10	chr1:175525986-175526036	PFSK-1	brain:	n/a
11	chr1:175525986-175526036	HRE	kidney:	n/a
12	chr1:175525986-175526036	HRCEpiC	kidney:	n/a
13	chr1:175525986-175526036	HRPEpiC	eye:	n/a
14	chr1:175525986-175526036	AG09319	gingival:	n/a
15	chr1:175525986-175526036	IMR90	lung:	fetal
16	chr1:175525986-175526036	SK-N-SH_RA	brain:	n/a
17	chr1:175525986-175526036	HepG2	liver:	n/a
18	chr1:175525986-175526036	MCF-7	breast:	n/a
19	chr1:175525986-175526036	NT2-D1	testis:	n/a
20	chr1:175525986-175526036	MCF10A-Er-Src	breast:	n/a
21	chr1:175525986-175526036	K562	blood:	n/a
22	chr1:175525986-175526036	GM12891	blood:	n/a
23	chr1:175525986-175526036	PrEC	prostate:	n/a
24	chr1:175525986-175526036	HL-60	blood:	n/a
25	chr1:175525986-175526036	NB4	blood:	n/a
26	chr1:175525986-175526036	GM19239	blood:	n/a
27	chr1:175525986-175526036	SK-N-MC	brain:	n/a
28	chr1:175525986-175526036	HCM	heart:	n/a
29	chr1:175525986-175526036	GM12878	blood:	n/a
30	chr1:175525986-175526036	GM06990	blood:	n/a
31	chr1:175525986-175526036	AG10803	skin:	n/a
32	chr1:175525986-175526036	NHDF-neo	bronchial:	n/a
33	chr1:175525986-175526036	ovcar-3	ovarian:	n/a
34	chr1:175525986-175526036	LNCaP	prostate:	n/a
35	chr1:175525986-175526036	HIPEpiC	eye:	n/a
36	chr1:175525986-175526036	PANC-1	pancreas:	n/a
37	chr1:175525986-175526036	Caco-2	colon:	n/a
38	chr1:175525986-175526036	T-47D	breast:	n/a
39	chr1:175525986-175526036	HEEpiC	esophagus:	n/a
40	chr1:175525986-175526036	HNPCEpiC	eye:	n/a
41	chr1:175525986-175526036	SAEC	small airway:	n/a
42	chr1:175525986-175526036	AG09309	skin:	n/a
43	chr1:175525986-175526036	U87	brain:	n/a
44	chr1:175525986-175526036	BJ	skin:	n/a
45	chr1:175525986-175526036	NH-A	brain:	n/a
46	chr1:175525986-175526036	BE2_C	brain:	n/a
47	chr1:175525986-175526036	AG04450	lung:	fetal
48	chr1:175525986-175526036	AoSMC	blood vessel:	n/a
49	chr1:175525986-175526036	Hela-S3	cervix:	n/a
50	chr1:175525986-175526036	SKMC	muscle:	n/a

No data

Variant related genes	Relation type
TNR-IT1	TF binding region
TNR-IT1	CpG island

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1003965	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10489312	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10489313	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913002	1.00[ASN][1000 genomes]
rs12740769	0.82[EUR][1000 genomes]
rs16848575	0.83[EUR][1000 genomes]
rs17304735	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17376706	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17376819	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2179159	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35604600	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41383651	1.00[ASN][1000 genomes]
rs61805066	1.00[ASN][1000 genomes]
rs61805071	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61805099	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61808381	1.00[ASN][1000 genomes]
rs6425350	1.00[ASN][1000 genomes]
rs6683510	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7418337	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs742093	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs983058	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999586	chr1:175428957-175765789	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1014015	chr1:175430199-175752187	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1012012	chr1:175430199-175760752	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1000135	chr1:175430199-175765789	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1008727	chr1:175430808-175752725	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1008620	chr1:175430808-175760752	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv527256	chr1:175430855-175582250	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv466072	chr1:175430855-175739003	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv548243	chr1:175430855-175739003	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv528975	chr1:175430855-175757242	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv466083	chr1:175430855-175757242	Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv548244	chr1:175430855-175757242	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv548245	chr1:175430855-175772378	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv1004585	chr1:175436519-175739951	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv998119	chr1:175436519-175760752	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv948460	chr1:175439176-175751385	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv1011962	chr1:175440153-175760752	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	esv33328	chr1:175446583-175910001	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
19	nsv915955	chr1:175448830-175704923	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	nsv998327	chr1:175448846-175704803	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	nsv535211	chr1:175448846-175704803	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv1001391	chr1:175448870-175728998	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	nsv535212	chr1:175448870-175728998	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
24	nsv508659	chr1:175495780-175547908	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175518400-175537600	Weak transcription	Pancreas	Pancrea
2	chr1:175519800-175529400	Weak transcription	Fetal Brain Male	brain
3	chr1:175525000-175531600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:175525200-175528200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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