Variant report

Variant	rs13275308
Chromosome Location	chr8:124776537-124776538
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr8:124775421-124776564	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr8:124775319-124776544	SK-N-SH	brain:	n/a	chr8:124775830-124775839
3	CTCF	chr8:124776420-124776570	BJ	skin:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:124776493-124776543	Jurkat	blood:	n/a
2	chr8:124776493-124776543	LNCaP	prostate:	n/a
3	chr8:124776493-124776543	HEEpiC	esophagus:	n/a
4	chr8:124776493-124776543	NT2-D1	testis:	n/a
5	chr8:124776493-124776543	SK-N-MC	brain:	n/a
6	chr8:124776493-124776543	U87	brain:	n/a
7	chr8:124776493-124776543	BE2_C	brain:	n/a
8	chr8:124776493-124776543	HUVEC	blood vessel:	n/a
9	chr8:124776493-124776543	HPAEpiC	pulmonary alveolar:	n/a
10	chr8:124776493-124776543	AG10803	skin:	n/a
11	chr8:124776493-124776543	NHDF-neo	bronchial:	n/a
12	chr8:124776493-124776543	RPTEC	kidney:	n/a
13	chr8:124776493-124776543	AG04449	skin:	fetal
14	chr8:124776493-124776543	H1-hESC	embryonic stem cell:	embryo
15	chr8:124776493-124776543	HL-60	blood:	n/a
16	chr8:124776493-124776543	ECC-1	luminal epithelium:	n/a
17	chr8:124776493-124776543	GM12891	blood:	n/a
18	chr8:124776493-124776543	HCF	heart:	n/a
19	chr8:124776493-124776543	HepG2	liver:	n/a
20	chr8:124776493-124776543	ProgFib	skin:	n/a
21	chr8:124776493-124776543	HRPEpiC	eye:	n/a
22	chr8:124776493-124776543	HIPEpiC	eye:	n/a
23	chr8:124776493-124776543	AG09309	skin:	n/a
24	chr8:124776493-124776543	SAEC	small airway:	n/a
25	chr8:124776493-124776543	AoSMC	blood vessel:	n/a
26	chr8:124776493-124776543	Caco-2	colon:	n/a
27	chr8:124776493-124776543	SK-N-SH_RA	brain:	n/a
28	chr8:124776493-124776543	GM19239	blood:	n/a
29	chr8:124776493-124776543	IMR90	lung:	fetal
30	chr8:124776493-124776543	HMEC	breast:	n/a
31	chr8:124776493-124776543	ovcar-3	ovarian:	n/a
32	chr8:124776493-124776543	HCM	heart:	n/a
33	chr8:124776493-124776543	GM12892	blood:	n/a
34	chr8:124776493-124776543	BJ	skin:	n/a
35	chr8:124776493-124776543	PANC-1	pancreas:	n/a
36	chr8:124776493-124776543	A549	lung:	n/a
37	chr8:124776493-124776543	NHBE	bronchial:	n/a
38	chr8:124776493-124776543	Hela-S3	cervix:	n/a
39	chr8:124776493-124776543	SKMC	muscle:	n/a
40	chr8:124776493-124776543	HNPCEpiC	eye:	n/a
41	chr8:124776493-124776543	SK-N-SH	brain:	n/a
42	chr8:124776493-124776543	HEK293	kidney:	embryo
43	chr8:124776493-124776543	PrEC	prostate:	n/a
44	chr8:124776493-124776543	AG09319	gingival:	n/a
45	chr8:124776493-124776543	MCF10A-Er-Src	breast:	n/a
46	chr8:124776493-124776543	HRE	kidney:	n/a
47	chr8:124776493-124776543	GM06990	blood:	n/a
48	chr8:124776493-124776543	HRCEpiC	kidney:	n/a
49	chr8:124776493-124776543	NB4	blood:	n/a
50	chr8:124776493-124776543	AG04450	lung:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr8:124774793..124777343-chr8:124779675..124781406,2	K562	blood:
2	chr8:124498382..124499732-chr8:124775337..124776622,15	MCF-7	breast:
3	chr8:124172440..124173389-chr8:124775729..124776620,2	MCF-7	breast:
4	chr8:124554591..124557037-chr8:124776144..124778121,2	MCF-7	breast:
5	chr8:124498395..124499379-chr8:124775101..124777135,29	MCF-7	breast:
6	chr8:124494348..124496562-chr8:124775687..124777483,2	MCF-7	breast:

No data

Variant related genes	Relation type
FAM91A1	TF binding region
FAM91A1	CpG island
ENSG00000176853	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10099401	0.80[ASN][1000 genomes]
rs10429369	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11785018	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11986791	0.90[EUR][1000 genomes]
rs12546891	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12550235	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13253599	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13261392	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13278088	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13278192	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16898871	0.92[CEU][hapmap];0.97[GIH][hapmap];0.90[MEX][hapmap];0.86[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1835691	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1966620	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2060112	0.97[GIH][hapmap]
rs2272683	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34253744	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34354351	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34850344	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35420592	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4870867	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4871414	0.91[EUR][1000 genomes]
rs4871415	0.92[CEU][hapmap];0.94[GIH][hapmap];0.81[MEX][hapmap];0.86[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6470186	0.85[CEU][hapmap];0.94[GIH][hapmap];0.81[MEX][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs66515434	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67139073	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67237665	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6985019	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6986269	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6988602	0.92[CEU][hapmap];0.97[GIH][hapmap];0.89[TSI][hapmap];0.93[EUR][1000 genomes]
rs6998271	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7004482	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7012004	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7014688	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7017174	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73333742	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73337418	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7827025	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7846164	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9297674	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9297675	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831451	chr8:124710946-124885148	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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	23 gene(s)	inside rSNPs	diseases
2	nsv6373	chr8:124741567-124786609	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124767800-124778400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:124770600-124780000	Weak transcription	Pancreas	Pancrea
3	chr8:124773600-124778200	Weak transcription	K562	blood
4	chr8:124775800-124778400	Weak transcription	Brain Anterior Caudate	brain
5	chr8:124775800-124778400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr8:124775800-124779600	Weak transcription	Fetal Intestine Large	intestine
7	chr8:124776000-124778200	Weak transcription	HepG2	liver
8	chr8:124776000-124778400	Weak transcription	Liver	Liver
9	chr8:124776000-124779800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr8:124776000-124779800	Weak transcription	Brain Hippocampus Middle	brain
11	chr8:124776000-124780000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:124776200-124778000	Weak transcription	Fetal Heart	heart
13	chr8:124776200-124778000	Weak transcription	Fetal Intestine Small	intestine
14	chr8:124776200-124778600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:124776200-124779400	Weak transcription	HMEC	breast
16	chr8:124776200-124779600	Weak transcription	Colon Smooth Muscle	Colon
17	chr8:124776400-124778600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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