Variant report

Variant	rs929881
Chromosome Location	chr16:74808425-74808426
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:74808018..74808851-chr17:56708883..56709551,2	Hela-S3	cervix:
2	chr12:49075684..49076658-chr16:74808184..74809111,2	Hela-S3	cervix:
3	chr16:74806794..74808718-chr17:60782229..60784294,2	MCF-7	breast:
4	chr16:74787070..74789483-chr16:74807129..74808645,2	MCF-7	breast:
5	chr1:150551657..150552400-chr16:74808155..74808789,2	Hela-S3	cervix:
6	chr16:74780351..74785848-chr16:74807254..74810760,5	MCF-7	breast:
7	chr16:74733195..74735791-chr16:74808098..74810284,2	MCF-7	breast:
8	chr16:74808129..74809001-chr5:102594045..102594631,2	Hela-S3	cervix:
9	chr16:74807149..74809912-chr16:75031086..75033646,2	K562	blood:
10	chr16:74639550..74641581-chr16:74807384..74809629,2	MCF-7	breast:
11	chr16:74801382..74803989-chr16:74806542..74808626,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000212195	Chromatin interaction
ENSG00000263661	Chromatin interaction
ENSG00000168404	Chromatin interaction
ENSG00000090863	Chromatin interaction
ENSG00000265702	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000186187	Chromatin interaction
ENSG00000139620	Chromatin interaction
ENSG00000181751	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4888283	1.00[JPT][hapmap]
rs4888284	1.00[JPT][hapmap]
rs57113459	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57276041	0.94[ASN][1000 genomes]
rs57820954	0.94[ASN][1000 genomes]
rs57832954	0.94[ASN][1000 genomes]
rs57846685	0.94[ASN][1000 genomes]
rs60293445	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61439639	0.83[ASN][1000 genomes]
rs6564168	1.00[JPT][hapmap]
rs7189427	0.94[ASN][1000 genomes]
rs7206186	0.94[ASN][1000 genomes]
rs73616419	0.94[ASN][1000 genomes]
rs73616433	0.94[ASN][1000 genomes]
rs73616447	1.00[ASN][1000 genomes]
rs73616448	0.94[ASN][1000 genomes]
rs73616461	0.94[ASN][1000 genomes]
rs73616476	0.83[ASN][1000 genomes]
rs8048578	1.00[JPT][hapmap]
rs8055156	1.00[JPT][hapmap]
rs8055626	0.94[ASN][1000 genomes]
rs8060979	0.83[CEU][hapmap];0.83[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8061027	0.94[ASN][1000 genomes]
rs933334	1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs933335	0.83[CHD][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9931439	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 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
13	esv3369191	chr16:74807951-74809849	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74805600-74809000	Active TSS	Brain Angular Gyrus	brain
2	chr16:74806200-74808800	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr16:74806400-74808800	Active TSS	Brain Substantia Nigra	brain
4	chr16:74806400-74809000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr16:74806600-74809000	Active TSS	Brain Anterior Caudate	brain
6	chr16:74807400-74809000	Active TSS	Gastric	stomach
7	chr16:74807400-74809400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr16:74807600-74809000	Bivalent/Poised TSS	Small Intestine	intestine
9	chr16:74807600-74809200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr16:74807600-74809400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr16:74807600-74809400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr16:74807600-74809400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr16:74807800-74809000	Enhancers	Fetal Heart	heart
14	chr16:74807800-74809200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr16:74807800-74809400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr16:74808000-74808600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr16:74808000-74808600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr16:74808000-74808600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr16:74808000-74808600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr16:74808000-74808600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
21	chr16:74808000-74808600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr16:74808000-74808600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr16:74808000-74808600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
24	chr16:74808000-74808800	Bivalent Enhancer	Primary B cells from cord blood	blood
25	chr16:74808000-74808800	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr16:74808000-74809000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr16:74808000-74809000	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr16:74808000-74809000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
29	chr16:74808000-74809000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
30	chr16:74808000-74809000	Flanking Active TSS	Right Ventricle	heart
31	chr16:74808000-74809000	Bivalent/Poised TSS	Stomach Mucosa	stomach
32	chr16:74808000-74809000	Active TSS	Hela-S3	cervix
33	chr16:74808000-74809000	Bivalent/Poised TSS	HSMM	muscle
34	chr16:74808000-74809200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr16:74808000-74809200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
36	chr16:74808000-74809200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr16:74808000-74809200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr16:74808000-74809200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
39	chr16:74808000-74809200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
40	chr16:74808000-74809400	Active TSS	H9 Cell Line	embryonic stem cell
41	chr16:74808000-74809400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
42	chr16:74808000-74809400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
43	chr16:74808000-74809400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
44	chr16:74808000-74809400	Bivalent Enhancer	Fetal Brain Male	brain
45	chr16:74808000-74809600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
46	chr16:74808200-74808600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr16:74808200-74808600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
48	chr16:74808200-74808600	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr16:74808200-74808600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr16:74808200-74808600	Active TSS	Esophagus	oesophagus

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