Variant report

Variant	rs1394290
Chromosome Location	chr6:80311320-80311321
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:80311176..80314030-chr6:80317329..80319854,3	MCF-7	breast:
2	chr6:80309921..80312950-chr6:80318776..80321900,3	MCF-7	breast:
3	chr6:80293960..80295543-chr6:80310268..80312348,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1857723	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2009835	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2202350	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2575196	0.93[ASN][1000 genomes]
rs2655655	0.93[ASN][1000 genomes]
rs2803173	0.93[ASN][1000 genomes]
rs2803195	0.86[ASN][1000 genomes]
rs2812678	0.85[EUR][1000 genomes]
rs2812680	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2812681	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2812684	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2812687	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2814382	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4413576	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59647837	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60268859	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60977457	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73476125	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73476163	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73476166	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73476169	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73476172	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73476199	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73478203	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73747408	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7741677	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv463906	chr6:80240951-80313297	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv604052	chr6:80240951-80313297	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80298600-80324200	Weak transcription	Right Ventricle	heart
2	chr6:80300000-80312200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:80307200-80314600	Weak transcription	Small Intestine	intestine
4	chr6:80308000-80312200	Enhancers	Stomach Mucosa	stomach
5	chr6:80309200-80311400	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr6:80309400-80312400	Enhancers	Fetal Intestine Small	intestine
7	chr6:80309400-80313200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr6:80310000-80311400	Enhancers	NHLF	lung
9	chr6:80310000-80314200	Weak transcription	Fetal Heart	heart
10	chr6:80310200-80311400	Enhancers	Osteobl	bone
11	chr6:80310200-80314000	Enhancers	K562	blood
12	chr6:80310400-80312000	Weak transcription	Brain Angular Gyrus	brain
13	chr6:80310400-80314600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr6:80310400-80315800	Weak transcription	Gastric	stomach
15	chr6:80310400-80315800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr6:80310400-80317800	Weak transcription	Colonic Mucosa	Colon
17	chr6:80310600-80312200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:80310600-80319200	Weak transcription	Psoas Muscle	Psoas
19	chr6:80310800-80312400	Weak transcription	A549	lung
20	chr6:80310800-80314400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:80311000-80312200	Weak transcription	Brain Anterior Caudate	brain
22	chr6:80311000-80312600	Weak transcription	HSMMtube	muscle
23	chr6:80311000-80315800	Weak transcription	Hela-S3	cervix
24	chr6:80311000-80324400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr6:80311200-80311400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:80311200-80312200	Weak transcription	HSMM	muscle
27	chr6:80311200-80312600	Weak transcription	NH-A	brain
28	chr6:80311200-80313600	Weak transcription	HepG2	liver
29	chr6:80311200-80313800	Weak transcription	Fetal Intestine Large	intestine
30	chr6:80311200-80314000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr6:80311200-80314000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr6:80311200-80314000	Weak transcription	HMEC	breast
33	chr6:80311200-80314200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:80311200-80314200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:80311200-80315800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:80311200-80317200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr6:80311200-80324400	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links