Variant report

Variant	rs7499759
Chromosome Location	chr16:75593363-75593364
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr16:75593355-75594427	K562	blood:	n/a	n/a
2	YY1	chr16:75593363-75593733	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:75588622..75597419-chr16:75598326..75606239,14	K562	blood:
2	chr16:75587061..75591674-chr16:75591677..75597187,8	K562	blood:
3	chr16:75593028..75596412-chr16:75596623..75599848,3	MCF-7	breast:
4	chr16:75593216..75596661-chr16:75599139..75601757,3	MCF-7	breast:
5	chr16:75588642..75591639-chr16:75592315..75596973,4	MCF-7	breast:
6	chr16:75589157..75591789-chr16:75592246..75594958,4	K562	blood:
7	chr16:75593250..75596560-chr16:75613588..75617138,3	MCF-7	breast:
8	chr16:75587220..75591082-chr16:75591374..75595708,8	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM231	TF binding region
ENSG00000205084	Chromatin interaction
ENSG00000034713	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10871314	0.80[AMR][1000 genomes]
rs11149842	0.84[AMR][1000 genomes]
rs12445389	0.88[AMR][1000 genomes]
rs12445937	0.88[AMR][1000 genomes]
rs12446652	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12595883	0.96[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12596033	0.92[AMR][1000 genomes]
rs12596083	0.82[AMR][1000 genomes]
rs12596724	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12598094	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12598741	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12598751	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12599212	0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12599322	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12600066	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12600271	0.99[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16940253	0.94[AMR][1000 genomes]
rs16940467	0.93[AMR][1000 genomes]
rs17697211	0.94[AMR][1000 genomes]
rs17764821	0.89[AMR][1000 genomes]
rs17764918	0.82[AMR][1000 genomes]
rs1812507	0.96[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1836547	0.90[AMR][1000 genomes]
rs1979717	0.92[AMR][1000 genomes]
rs2164245	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2242406	0.99[AMR][1000 genomes]
rs2278469	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2289063	0.92[AMR][1000 genomes]
rs2903096	0.82[AMR][1000 genomes]
rs3736377	0.91[AMR][1000 genomes]
rs3743599	0.92[AMR][1000 genomes]
rs3743601	0.96[AMR][1000 genomes]
rs3743603	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3743605	0.93[AMR][1000 genomes]
rs3826108	0.85[AMR][1000 genomes]
rs3851741	0.92[AMR][1000 genomes]
rs4482320	0.86[AMR][1000 genomes]
rs4887833	0.90[AMR][1000 genomes]
rs4887835	0.82[AMR][1000 genomes]
rs4887836	0.82[AMR][1000 genomes]
rs4887837	0.82[AMR][1000 genomes]
rs4888436	0.99[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4888437	0.99[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4888440	0.92[AMR][1000 genomes]
rs4888442	0.94[AMR][1000 genomes]
rs4888448	0.82[AMR][1000 genomes]
rs4888449	0.82[AMR][1000 genomes]
rs4888451	0.82[AMR][1000 genomes]
rs4888455	0.82[AMR][1000 genomes]
rs57252551	0.94[AMR][1000 genomes]
rs58091977	0.82[AMR][1000 genomes]
rs58264015	0.82[AMR][1000 genomes]
rs58273293	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58508930	0.92[AMR][1000 genomes]
rs58533792	0.83[AMR][1000 genomes]
rs58597869	0.97[AMR][1000 genomes]
rs58673511	0.91[AMR][1000 genomes]
rs58719566	0.99[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58846463	0.83[AMR][1000 genomes]
rs59449831	0.82[AMR][1000 genomes]
rs59907199	0.91[AMR][1000 genomes]
rs60393074	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60952428	0.89[AMR][1000 genomes]
rs61036571	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs61078946	0.83[AMR][1000 genomes]
rs61164110	0.83[AMR][1000 genomes]
rs61183686	0.83[AMR][1000 genomes]
rs61537885	0.81[EUR][1000 genomes]
rs61539645	0.87[AMR][1000 genomes]
rs6564268	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7187419	0.82[AMR][1000 genomes]
rs7187672	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7193066	0.89[AMR][1000 genomes]
rs7195338	0.92[AMR][1000 genomes]
rs719574	0.91[AMR][1000 genomes]
rs7206799	0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs74027438	0.93[AMR][1000 genomes]
rs8048533	0.80[AMR][1000 genomes]
rs8051713	0.94[AMR][1000 genomes]
rs8055329	0.83[AMR][1000 genomes]
rs8056968	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8060972	0.85[AMR][1000 genomes]
rs8192516	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs963820	0.85[AMR][1000 genomes]
rs9788802	0.92[AMR][1000 genomes]
rs9934159	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
6	nsv457521	chr16:75487758-75603925	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	nsv572979	chr16:75487758-75603925	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv532561	chr16:75519574-75636977	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv906929	chr16:75569739-75594918	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75590600-75593600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr16:75590600-75593600	Weak transcription	NHDF-Ad	bronchial
3	chr16:75590600-75594000	Weak transcription	NH-A	brain
4	chr16:75590600-75595200	Weak transcription	GM12878-XiMat	blood
5	chr16:75590600-75599000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr16:75590800-75593400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr16:75590800-75593400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr16:75590800-75593400	Weak transcription	HSMMtube	muscle
9	chr16:75590800-75593400	Weak transcription	Osteobl	bone
10	chr16:75590800-75593600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr16:75590800-75593600	Weak transcription	Adipose Nuclei	Adipose
12	chr16:75590800-75593600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr16:75590800-75593600	Weak transcription	Hela-S3	cervix
14	chr16:75590800-75593600	Weak transcription	HMEC	breast
15	chr16:75590800-75593600	Weak transcription	HSMM	muscle
16	chr16:75590800-75593600	Enhancers	K562	blood
17	chr16:75590800-75593600	Weak transcription	NHLF	lung
18	chr16:75590800-75594000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr16:75591200-75593400	Weak transcription	Fetal Muscle Leg	muscle
20	chr16:75591200-75593600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:75591200-75593800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr16:75591200-75594400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr16:75591200-75599400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr16:75592200-75593800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr16:75592400-75594800	Enhancers	Placenta	Placenta
26	chr16:75592600-75593800	Weak transcription	NHEK	skin
27	chr16:75592800-75594200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr16:75592800-75594400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:75592800-75594400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr16:75592800-75594400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr16:75592800-75594400	Enhancers	Placenta Amnion	Placenta Amnion
32	chr16:75593000-75593600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr16:75593000-75593800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr16:75593000-75594000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr16:75593000-75594200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr16:75593000-75594200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr16:75593000-75594400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr16:75593000-75594400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr16:75593000-75594600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr16:75593200-75593400	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr16:75593200-75593600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr16:75593200-75593600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr16:75593200-75593800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr16:75593200-75594000	Weak transcription	Fetal Lung	lung
45	chr16:75593200-75594200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr16:75593200-75598600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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