Variant report

Variant	rs8061027
Chromosome Location	chr16:74807563-74807564
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:74806794..74808718-chr17:60782229..60784294,2	MCF-7	breast:
2	chr16:74787070..74789483-chr16:74807129..74808645,2	MCF-7	breast:
3	chr16:74780351..74785848-chr16:74807254..74810760,5	MCF-7	breast:
4	chr16:74807149..74809912-chr16:75031086..75033646,2	K562	blood:
5	chr16:74639550..74641581-chr16:74807384..74809629,2	MCF-7	breast:
6	chr16:74801382..74803989-chr16:74806542..74808626,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265702	Chromatin interaction
ENSG00000090863	Chromatin interaction
ENSG00000263661	Chromatin interaction
ENSG00000186187	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs57113459	0.83[ASN][1000 genomes]
rs57276041	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57820954	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57832954	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57846685	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61439639	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61682955	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7189427	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7195751	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7206186	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73616419	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73616433	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73616447	0.94[ASN][1000 genomes]
rs73616448	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73616461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73616476	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8055626	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8055969	0.92[AFR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8060979	0.94[ASN][1000 genomes]
rs929881	0.94[ASN][1000 genomes]
rs933334	0.94[ASN][1000 genomes]
rs933335	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916687	chr16:74241238-74896721	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv949374	chr16:74466960-75172358	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
4	nsv1061948	chr16:74660609-74882915	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
5	nsv542957	chr16:74660609-74882915	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
6	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
7	nsv517513	chr16:74743736-74812676	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
8	nsv1058900	chr16:74753819-75005050	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
9	nsv542958	chr16:74753819-75005050	Weak transcription Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
10	esv3345041	chr16:74756263-75066969	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
11	nsv457520	chr16:74758984-74907440	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
12	nsv572976	chr16:74758984-74907440	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74801600-74807600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr16:74805600-74809000	Active TSS	Brain Angular Gyrus	brain
3	chr16:74806200-74807800	Active TSS	Brain Cingulate Gyrus	brain
4	chr16:74806200-74808800	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr16:74806400-74807800	Weak transcription	Spleen	Spleen
6	chr16:74806400-74808800	Active TSS	Brain Substantia Nigra	brain
7	chr16:74806400-74809000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr16:74806600-74807600	Weak transcription	GM12878-XiMat	blood
9	chr16:74806600-74807800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr16:74806600-74807800	Active TSS	Brain Hippocampus Middle	brain
11	chr16:74806600-74809000	Active TSS	Brain Anterior Caudate	brain
12	chr16:74807000-74808000	Flanking Active TSS	Hela-S3	cervix
13	chr16:74807200-74807600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
14	chr16:74807400-74807600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr16:74807400-74807600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr16:74807400-74807600	Active TSS	Duodenum Mucosa	Duodenum
17	chr16:74807400-74807600	Bivalent Enhancer	Fetal Intestine Small	intestine
18	chr16:74807400-74807600	Enhancers	Pancreas	Pancrea
19	chr16:74807400-74807600	Bivalent Enhancer	Small Intestine	intestine
20	chr16:74807400-74807600	Flanking Active TSS	Thymus	Thymus
21	chr16:74807400-74807600	Active TSS	A549	lung
22	chr16:74807400-74807600	Bivalent Enhancer	HepG2	liver
23	chr16:74807400-74807800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
24	chr16:74807400-74807800	Bivalent Enhancer	Fetal Intestine Large	intestine
25	chr16:74807400-74807800	Bivalent/Poised TSS	Stomach Mucosa	stomach
26	chr16:74807400-74808000	Active TSS	Colonic Mucosa	Colon
27	chr16:74807400-74808000	Bivalent/Poised TSS	Fetal Stomach	stomach
28	chr16:74807400-74808000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
29	chr16:74807400-74808000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
30	chr16:74807400-74808000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
31	chr16:74807400-74808200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
32	chr16:74807400-74808400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
33	chr16:74807400-74808400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr16:74807400-74809000	Active TSS	Gastric	stomach
35	chr16:74807400-74809400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

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