Variant report

Variant	rs2655700
Chromosome Location	chr6:80315818-80315819
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:80313208..80315896-chr6:80339700..80342572,2	K562	blood:
2	chr6:80314864..80317185-chr6:80322166..80324307,2	MCF-7	breast:
3	chr6:80314232..80316495-chr6:80323801..80327560,3	K562	blood:
4	chr6:80315668..80318474-chr6:80337114..80339782,2	MCF-7	breast:
5	chr6:80314465..80316652-chr6:80340600..80342815,2	MCF-7	breast:
6	chr6:80314692..80316652-chr6:80320135..80321870,2	K562	blood:

Variant related genes	Relation type
ENSG00000198478	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs13198837	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13206818	0.85[CHB][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs1351959	0.81[MEX][hapmap]
rs1354452	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2009837	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2047896	0.81[CHB][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs2655662	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2655663	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2655683	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2655699	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2655701	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2812689	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2812690	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2812692	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3747766	0.85[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs3747767	0.81[AFR][1000 genomes]
rs4599589	0.85[ASN][1000 genomes]
rs66572100	0.81[AFR][1000 genomes]
rs6915859	0.82[CHB][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs6930436	0.82[CHB][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs71565047	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72624517	0.81[AFR][1000 genomes]
rs7754849	0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs9294148	0.86[MEX][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs9341781	0.82[CHB][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs9343918	0.82[CHB][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs9343919	0.81[AFR][1000 genomes]
rs9352737	0.85[MEX][hapmap]
rs9352743	1.00[ASW][hapmap];0.85[YRI][hapmap]
rs9352744	0.81[LWK][hapmap];0.90[MEX][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs9352747	1.00[ASW][hapmap];0.82[CHB][hapmap];0.81[GIH][hapmap];0.81[LWK][hapmap];0.90[MEX][hapmap];0.85[YRI][hapmap]
rs9359382	0.82[CHB][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs9359383	0.87[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs9359385	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9361538	1.00[ASW][hapmap];0.81[CHB][hapmap];0.80[CHD][hapmap];0.83[GIH][hapmap];0.81[LWK][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs9361539	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9448748	0.85[AMR][1000 genomes]
rs958114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv886301	chr6:80111104-80339088	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv886302	chr6:80111104-80355973	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1027388	chr6:80113449-80355973	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv830707	chr6:80134625-80325171	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1029259	chr6:80142754-80340332	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv1018318	chr6:80241029-80465282	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv886304	chr6:80294265-80355973	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80298600-80324200	Weak transcription	Right Ventricle	heart
2	chr6:80310400-80317800	Weak transcription	Colonic Mucosa	Colon
3	chr6:80310600-80319200	Weak transcription	Psoas Muscle	Psoas
4	chr6:80311000-80324400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr6:80311200-80317200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:80311200-80324400	Weak transcription	Pancreas	Pancrea
7	chr6:80312200-80319200	Enhancers	HSMM	muscle
8	chr6:80312600-80316600	Weak transcription	Fetal Kidney	kidney
9	chr6:80312800-80316200	Weak transcription	Brain Angular Gyrus	brain
10	chr6:80313000-80316800	Weak transcription	Brain Anterior Caudate	brain
11	chr6:80313400-80317800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:80313400-80321800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:80313600-80318400	Enhancers	HepG2	liver
14	chr6:80313600-80321600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:80314600-80317800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:80314600-80318600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:80314600-80318600	Weak transcription	Fetal Heart	heart
18	chr6:80314800-80318000	Weak transcription	A549	lung
19	chr6:80314800-80320600	Enhancers	Stomach Mucosa	stomach
20	chr6:80315000-80316600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr6:80315000-80316800	Weak transcription	Fetal Intestine Large	intestine
22	chr6:80315000-80316800	Enhancers	HSMMtube	muscle
23	chr6:80315000-80316800	Weak transcription	Osteobl	bone
24	chr6:80315000-80340600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:80315200-80318600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr6:80315200-80320800	Enhancers	K562	blood
27	chr6:80315800-80316000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:80315800-80316000	Enhancers	Aorta	Aorta
29	chr6:80315800-80316000	Enhancers	Fetal Intestine Small	intestine
30	chr6:80315800-80316000	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr6:80315800-80316400	Enhancers	Gastric	stomach
32	chr6:80315800-80316600	Enhancers	Ovary	ovary
33	chr6:80315800-80317000	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr6:80315800-80317200	Enhancers	Hela-S3	cervix
35	chr6:80315800-80317400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:80315800-80320200	Enhancers	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links