Variant report

Variant	rs6994510
Chromosome Location	chr8:126326754-126326755
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:56773723..56776584-chr8:126325913..126327457,2	MCF-7	breast:
2	chr8:126326305..126327912-chr8:126330901..126332474,2	MCF-7	breast:
3	chr8:126326083..126327600-chr8:126340385..126341947,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12541675	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12545844	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549614	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16893118	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900538	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16900559	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900568	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2385094	0.82[AMR][1000 genomes]
rs28895930	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35309384	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871579	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871581	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871583	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55808842	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55913855	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7015929	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720592	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720595	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72720596	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720597	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720601	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72722603	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722605	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722614	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72722617	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	esv3419040	chr8:126271495-126339914	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv891436	chr8:126283766-126345076	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126302600-126331000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:126308000-126336000	Weak transcription	Psoas Muscle	Psoas
3	chr8:126318600-126354600	Weak transcription	Ovary	ovary
4	chr8:126320000-126328200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:126320200-126328800	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:126321000-126329200	Weak transcription	Gastric	stomach
7	chr8:126322000-126328200	Weak transcription	Colonic Mucosa	Colon
8	chr8:126322000-126332000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:126322000-126374200	Weak transcription	Aorta	Aorta
10	chr8:126322200-126328200	Weak transcription	Small Intestine	intestine
11	chr8:126322600-126328000	Weak transcription	Placenta	Placenta
12	chr8:126323600-126327200	Weak transcription	A549	lung
13	chr8:126323600-126330800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:126323600-126340200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:126323800-126327400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:126323800-126328200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr8:126324000-126328800	Weak transcription	HSMM	muscle
18	chr8:126324000-126331600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr8:126324200-126354200	Weak transcription	Hela-S3	cervix
20	chr8:126325000-126327400	Weak transcription	Fetal Intestine Large	intestine
21	chr8:126325000-126328000	Enhancers	K562	blood
22	chr8:126325200-126327800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr8:126325200-126328400	Weak transcription	HepG2	liver
24	chr8:126325400-126327400	Weak transcription	Fetal Intestine Small	intestine
25	chr8:126325800-126327000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr8:126326000-126327000	Weak transcription	Fetal Brain Male	brain
27	chr8:126326000-126327200	Weak transcription	Fetal Heart	heart
28	chr8:126326400-126326800	Weak transcription	GM12878-XiMat	blood
29	chr8:126326600-126326800	Enhancers	Left Ventricle	heart

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