Variant report

Variant	rs8058514
Chromosome Location	chr16:69762103-69762104
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr16:69761506-69762135	K562	blood:	n/a	n/a
2	MAX	chr16:69761491-69762187	K562	blood:	n/a	n/a
3	POLR2A	chr16:69759024-69762149	Hela-S3	cervix:	n/a	n/a
4	E2F6	chr16:69761374-69762229	A549	lung:	n/a	n/a
5	TBP	chr16:69760063-69762124	Hela-S3	cervix:	n/a	n/a
6	MAX	chr16:69759767-69762253	A549	lung:	n/a	chr16:69760446-69760462
7	POLR2A	chr16:69762002-69762187	HUVEC	blood vessel:	n/a	n/a
8	MAX	chr16:69761463-69762125	Hela-S3	cervix:	n/a	n/a
9	MAX	chr16:69761836-69762127	K562	blood:	n/a	n/a
10	HCFC1	chr16:69759627-69762365	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr16:69761838-69762141	HCT-116	colon:	n/a	n/a
12	NANOG	chr16:69761932-69762112	H1-hESC	embryonic stem cell:	n/a	n/a
13	MYC	chr16:69761861-69762183	K562	blood:	n/a	n/a
14	MXI1	chr16:69761882-69762161	Hela-S3	cervix:	n/a	n/a
15	MAX	chr16:69759617-69762681	A549	lung:	n/a	chr16:69762517-69762527 chr16:69760446-69760462
16	ZMIZ1	chr16:69761956-69762154	K562	blood:	n/a	n/a
17	MAFF	chr16:69761713-69762129	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:69760962..69763485-chr16:69779702..69781778,2	K562	blood:
2	chr16:69758127..69765240-chr16:69786072..69790209,13	K562	blood:
3	chr16:69736062..69737792-chr16:69760571..69762249,2	K562	blood:
4	chr16:69757296..69762552-chr16:69785671..69789636,11	K562	blood:
5	chr16:69761047..69762666-chr16:69765285..69767009,2	MCF-7	breast:
6	chr16:69375217..69376931-chr16:69761770..69763921,2	MCF-7	breast:
7	chr16:69756628..69762611-chr16:69781362..69792848,24	MCF-7	breast:
8	chr16:69760067..69762510-chr16:69795079..69797612,5	MCF-7	breast:
9	chr16:69343879..69346969-chr16:69760328..69762421,3	MCF-7	breast:
10	chr16:69741680..69751385-chr16:69755023..69763559,18	MCF-7	breast:

No data

Variant related genes	Relation type
NQO1	TF binding region
ENSG00000198373	Chromatin interaction
ENSG00000260290	Chromatin interaction
ENSG00000261602	Chromatin interaction
ENSG00000132612	Chromatin interaction
ENSG00000260772	Chromatin interaction
ENSG00000141101	Chromatin interaction
ENSG00000238683	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11859488	0.83[AFR][1000 genomes]
rs11860750	0.83[AFR][1000 genomes]
rs11861496	0.89[AFR][1000 genomes]
rs11861500	0.89[AFR][1000 genomes]
rs11862202	0.83[AFR][1000 genomes]
rs11863013	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11864406	0.83[AFR][1000 genomes]
rs11864525	0.89[AFR][1000 genomes]
rs11865019	0.89[AFR][1000 genomes]
rs13330277	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28525492	0.92[AFR][1000 genomes]
rs61730073	0.92[AFR][1000 genomes]
rs6499233	0.80[AFR][1000 genomes]
rs6499235	0.83[AFR][1000 genomes]
rs6499236	0.89[AFR][1000 genomes]
rs6499242	0.89[AFR][1000 genomes]
rs6499245	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs689459	0.92[AFR][1000 genomes]
rs7185263	0.92[AFR][1000 genomes]
rs7185430	0.89[AFR][1000 genomes]
rs7186199	0.83[AFR][1000 genomes]
rs7187272	0.83[AFR][1000 genomes]
rs7188149	0.82[AFR][1000 genomes]
rs7190711	0.89[AFR][1000 genomes]
rs7195974	0.80[AFR][1000 genomes]
rs7196193	0.89[AFR][1000 genomes]
rs7204285	0.89[AFR][1000 genomes]
rs8047310	0.92[AFR][1000 genomes]
rs8049055	0.89[AFR][1000 genomes]
rs8052967	0.89[AFR][1000 genomes]
rs8054678	0.89[AFR][1000 genomes]
rs8056135	0.89[AFR][1000 genomes]
rs8059310	0.92[AFR][1000 genomes]
rs8059311	0.89[AFR][1000 genomes]
rs8059804	0.89[AFR][1000 genomes]
rs8060543	0.92[AFR][1000 genomes]
rs9746717	0.89[AFR][1000 genomes]
rs9921129	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	esv3396845	chr16:69721905-69770627	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv517207	chr16:69745145-69771914	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv524364	chr16:69745145-69803443	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69758600-69762600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr16:69760600-69762200	Enhancers	Spleen	Spleen
3	chr16:69761000-69773200	Weak transcription	Brain Germinal Matrix	brain
4	chr16:69761000-69773400	Weak transcription	Fetal Lung	lung
5	chr16:69761200-69762200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr16:69761200-69762200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr16:69761200-69762200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr16:69761200-69762200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr16:69761200-69762200	Enhancers	Lung	lung
10	chr16:69761200-69762400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr16:69761200-69762800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr16:69761200-69772600	Weak transcription	Fetal Stomach	stomach
13	chr16:69761200-69773000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr16:69761200-69773000	Weak transcription	Fetal Brain Female	brain
15	chr16:69761200-69773000	Weak transcription	Fetal Intestine Large	intestine
16	chr16:69761200-69773200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr16:69761200-69773200	Weak transcription	Pancreas	Pancrea
18	chr16:69761200-69775400	Weak transcription	Fetal Brain Male	brain
19	chr16:69761200-69776200	Weak transcription	Ovary	ovary
20	chr16:69761400-69762200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr16:69761400-69762200	Enhancers	Adipose Nuclei	Adipose
22	chr16:69761400-69762400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr16:69761400-69762800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr16:69761400-69762800	Enhancers	Brain Angular Gyrus	brain
25	chr16:69761400-69762800	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr16:69761400-69766200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr16:69761400-69773000	Weak transcription	Fetal Intestine Small	intestine
28	chr16:69761400-69773200	Weak transcription	Primary B cells from cord blood	blood
29	chr16:69761400-69773800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:69761400-69773800	Weak transcription	Placenta	Placenta
31	chr16:69761400-69774200	Weak transcription	Esophagus	oesophagus
32	chr16:69761400-69774200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr16:69761600-69762200	Enhancers	HMEC	breast
34	chr16:69761600-69762200	Enhancers	HUVEC	blood vessel
35	chr16:69761600-69762400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr16:69761600-69762600	Enhancers	H1 Cell Line	embryonic stem cell
37	chr16:69761600-69763200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr16:69761600-69773000	Weak transcription	Primary T cells from cord blood	blood
39	chr16:69761600-69773000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr16:69761600-69773800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr16:69761600-69773800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr16:69761600-69773800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr16:69761600-69774000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr16:69761600-69774000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr16:69761600-69774000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr16:69761600-69774200	Weak transcription	Colon Smooth Muscle	Colon
47	chr16:69761600-69774200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr16:69761800-69762200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr16:69761800-69762200	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr16:69761800-69762200	Enhancers	Brain Hippocampus Middle	brain

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