Variant report

Variant	rs8063809
Chromosome Location	chr16:71192299-71192300
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71188987..71192929-chr16:71194834..71197955,4	MCF-7	breast:
2	chr16:71190387..71192872-chr16:71197969..71199497,2	MCF-7	breast:
3	chr16:71187877..71190382-chr16:71190613..71192536,2	MCF-7	breast:
4	chr16:71180800..71183455-chr16:71191857..71194078,2	K562	blood:
5	chr1:146645984..146648441-chr16:71191804..71194473,2	K562	blood:

Variant related genes	Relation type
ENSG00000157423	Chromatin interaction
ENSG00000271721	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1155052	0.86[ASN][1000 genomes]
rs1155054	0.86[ASN][1000 genomes]
rs12051093	0.81[ASN][1000 genomes]
rs12448046	0.86[ASN][1000 genomes]
rs12449210	0.83[ASN][1000 genomes]
rs12933427	0.81[ASN][1000 genomes]
rs13332757	0.89[ASN][1000 genomes]
rs1424134	0.86[ASN][1000 genomes]
rs1424136	0.87[ASN][1000 genomes]
rs1424137	0.86[ASN][1000 genomes]
rs1557761	0.87[ASN][1000 genomes]
rs1559420	0.86[ASN][1000 genomes]
rs1895528	0.87[ASN][1000 genomes]
rs2042423	0.88[ASN][1000 genomes]
rs2081253	0.86[ASN][1000 genomes]
rs2098746	0.86[ASN][1000 genomes]
rs2158102	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28663037	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2883938	0.86[ASN][1000 genomes]
rs35645515	0.82[ASN][1000 genomes]
rs3743954	0.82[ASN][1000 genomes]
rs3785346	0.86[ASN][1000 genomes]
rs3902443	0.86[ASN][1000 genomes]
rs4258623	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4636918	0.87[ASN][1000 genomes]
rs4788529	0.88[ASN][1000 genomes]
rs4788534	0.86[ASN][1000 genomes]
rs4788536	0.86[ASN][1000 genomes]
rs6499483	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6499489	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7193051	0.84[ASN][1000 genomes]
rs7498840	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs757106	0.80[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs764600	0.87[ASN][1000 genomes]
rs8052442	0.84[ASN][1000 genomes]
rs987958	0.86[ASN][1000 genomes]
rs9924525	0.88[ASN][1000 genomes]
rs9928164	0.87[ASN][1000 genomes]
rs9930115	0.86[ASN][1000 genomes]
rs9932494	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9934510	0.86[ASN][1000 genomes]
rs9936084	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9936905	0.88[ASN][1000 genomes]
rs9939194	0.85[ASN][1000 genomes]
rs9939836	0.87[ASN][1000 genomes]
rs9940569	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061191	chr16:70754975-71201367	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv1059478	chr16:70773597-71237055	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	esv2758429	chr16:70807122-71316983	Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	esv2758653	chr16:70807122-71316983	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	esv2757641	chr16:70833949-71200049	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	esv2446050	chr16:70845377-71202717	Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	esv2762121	chr16:70846071-71202797	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	esv2763140	chr16:70846071-71202797	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	esv18746	chr16:70847248-71202529	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv977996	chr16:70848125-71201713	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv1067462	chr16:70848374-71201367	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv542943	chr16:70848374-71201367	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	nsv1059620	chr16:70848374-71237055	Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	nsv542944	chr16:70848374-71237055	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
15	nsv870263	chr16:70848593-71201134	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
16	nsv1063374	chr16:70855190-71205896	Bivalent Enhancer Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
17	nsv533443	chr16:70860486-71196477	Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
18	nsv1056436	chr16:70887374-71201367	Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
19	nsv1063878	chr16:70914539-71201367	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
20	nsv542945	chr16:70914539-71201367	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
21	nsv533450	chr16:70929925-71196477	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
22	nsv1060754	chr16:71008303-71276778	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
23	nsv1063730	chr16:71072087-71196303	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
24	nsv1055139	chr16:71140675-71196303	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
25	esv3382237	chr16:71192017-71192438	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71185600-71192600	Weak transcription	Fetal Intestine Large	intestine
2	chr16:71185600-71192800	Weak transcription	Fetal Brain Male	brain
3	chr16:71185600-71192800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr16:71185800-71192800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr16:71186800-71192600	Weak transcription	Fetal Kidney	kidney
6	chr16:71187000-71192800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr16:71187400-71193200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr16:71187800-71192800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr16:71187800-71194400	Weak transcription	Brain Substantia Nigra	brain
10	chr16:71188000-71192800	Weak transcription	Brain Anterior Caudate	brain
11	chr16:71188800-71194000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr16:71189200-71192800	Weak transcription	Brain Hippocampus Middle	brain
13	chr16:71190000-71192800	Weak transcription	Brain Germinal Matrix	brain
14	chr16:71190000-71192800	Weak transcription	Ovary	ovary
15	chr16:71191400-71192400	Flanking Active TSS	Dnd41	blood
16	chr16:71191400-71193400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
17	chr16:71191400-71193400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr16:71191400-71194800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
19	chr16:71191600-71192400	Strong transcription	Fetal Brain Female	brain
20	chr16:71191600-71193000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr16:71191600-71193000	ZNF genes & repeats	Aorta	Aorta
22	chr16:71191600-71193000	ZNF genes & repeats	Fetal Intestine Small	intestine
23	chr16:71191600-71193200	Strong transcription	Brain Cingulate Gyrus	brain
24	chr16:71191600-71195400	ZNF genes & repeats	Fetal Stomach	stomach
25	chr16:71191800-71192600	Weak transcription	Fetal Lung	lung
26	chr16:71191800-71193000	ZNF genes & repeats	Pancreas	Pancrea
27	chr16:71191800-71193400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr16:71191800-71195600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
29	chr16:71192200-71194600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
30	chr16:71192200-71201400	Weak transcription	Brain Angular Gyrus	brain

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