Variant report

Variant	rs3986303
Chromosome Location	chr15:41443179-41443180
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:41246285..41249208-chr15:41442914..41444536,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128965	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11852799	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11857484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11857726	0.83[EUR][1000 genomes]
rs2013359	0.84[ASN][1000 genomes]
rs28547298	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28656781	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28770904	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28809504	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28874085	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28880687	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2928155	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955810	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35722320	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3959554	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs561821	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58330134	0.95[ASN][1000 genomes]
rs61648937	0.87[ASN][1000 genomes]
rs72737713	0.82[ASN][1000 genomes]
rs72737734	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73396323	0.95[ASN][1000 genomes]
rs8023991	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8030657	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8030965	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8031159	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9888708	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569229	chr15:41361138-41483682	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv904107	chr15:41361138-41493013	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv569230	chr15:41384649-41483682	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv904108	chr15:41384649-41486990	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv904109	chr15:41410705-41481254	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv457120	chr15:41410705-41546631	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv569231	chr15:41410705-41546631	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	esv10980	chr15:41423683-41445889	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3986303	NDUFAF1	Cis_1M	lymphoblastoid	RTeQTL
rs3986303	NDUFAF1	cis	Muscle Skeletal	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41441400-41443600	Enhancers	NHEK	skin
2	chr15:41441600-41443600	Enhancers	Hela-S3	cervix
3	chr15:41441800-41443200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr15:41441800-41443200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr15:41442400-41443200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr15:41442400-41443200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr15:41442400-41443200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr15:41442400-41443400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr15:41442600-41443200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr15:41442600-41443200	Enhancers	HMEC	breast
11	chr15:41442600-41443400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr15:41442600-41443400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:41442600-41443400	Enhancers	Primary T cells fromperipheralblood	blood
14	chr15:41442600-41443400	Enhancers	NHLF	lung
15	chr15:41442600-41443600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:41442600-41443800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr15:41442800-41443200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr15:41442800-41443200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr15:41442800-41443200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr15:41442800-41443200	Enhancers	A549	lung
21	chr15:41442800-41443200	Enhancers	Osteobl	bone
22	chr15:41443000-41443200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr15:41443000-41445600	Weak transcription	HepG2	liver

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