Variant report

Variant	rs1765642
Chromosome Location	chr1:94794916-94794917
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr1:94794768-94795049	HepG2	liver:	n/a	chr1:94794878-94794895
2	MAFF	chr1:94794762-94794962	HepG2	liver:	n/a	n/a
3	MAFK	chr1:94794477-94795050	HepG2	liver:	n/a	chr1:94794878-94794895
4	CEBPB	chr1:94794896-94795153	IMR90	lung:	n/a	chr1:94794963-94794972
5	MAFK	chr1:94794707-94795074	IMR90	lung:	n/a	chr1:94794878-94794895
6	SMC3	chr1:94794856-94796053	SK-N-SH	brain:	n/a	n/a
7	MAFK	chr1:94794838-94794985	H1-hESC	embryonic stem cell:	n/a	chr1:94794878-94794895

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94793698..94796571-chr1:94797240..94800025,2	K562	blood:

Variant related genes	Relation type
ENSG00000226835	TF binding region
ENSG00000236098	TF binding region
ENSG00000226835	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10399782	1.00[EUR][1000 genomes]
rs10782981	1.00[EUR][1000 genomes]
rs10874845	1.00[EUR][1000 genomes]
rs1146506	1.00[EUR][1000 genomes]
rs1146516	1.00[EUR][1000 genomes]
rs11800866	1.00[EUR][1000 genomes]
rs11801203	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11801251	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11802178	1.00[EUR][1000 genomes]
rs11802887	1.00[EUR][1000 genomes]
rs11802896	0.89[YRI][hapmap]
rs11803374	1.00[EUR][1000 genomes]
rs11803749	1.00[EUR][1000 genomes]
rs11805161	1.00[EUR][1000 genomes]
rs11806223	1.00[EUR][1000 genomes]
rs12069536	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1318396	1.00[EUR][1000 genomes]
rs1330856	1.00[EUR][1000 genomes]
rs1330858	1.00[EUR][1000 genomes]
rs1330859	1.00[EUR][1000 genomes]
rs1330860	1.00[EUR][1000 genomes]
rs1337856	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1337857	0.81[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1361124	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1411697	1.00[EUR][1000 genomes]
rs1411703	1.00[EUR][1000 genomes]
rs1571645	1.00[EUR][1000 genomes]
rs1577920	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1616972	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1617363	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1617719	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1687921	0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1687922	1.00[EUR][1000 genomes]
rs1687923	1.00[EUR][1000 genomes]
rs1687925	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1687926	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1687929	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1687934	1.00[EUR][1000 genomes]
rs1687938	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1687939	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1687942	1.00[EUR][1000 genomes]
rs1687945	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1687953	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1687955	1.00[EUR][1000 genomes]
rs1687958	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1687959	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1687960	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1687967	1.00[EUR][1000 genomes]
rs1687969	1.00[EUR][1000 genomes]
rs17111347	1.00[EUR][1000 genomes]
rs1749540	1.00[EUR][1000 genomes]
rs1756247	1.00[EUR][1000 genomes]
rs1756256	1.00[EUR][1000 genomes]
rs1756258	1.00[EUR][1000 genomes]
rs1756263	1.00[EUR][1000 genomes]
rs1756264	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1756265	0.89[YRI][hapmap]
rs1765616	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1765624	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1765625	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1765631	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1765633	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1765634	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1765637	0.90[AFR][1000 genomes]
rs1765638	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1765639	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1765653	1.00[EUR][1000 genomes]
rs2021993	1.00[EUR][1000 genomes]
rs2094824	0.81[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2391471	1.00[EUR][1000 genomes]
rs2483792	1.00[EUR][1000 genomes]
rs2774921	1.00[EUR][1000 genomes]
rs2798944	1.00[EUR][1000 genomes]
rs28494821	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2893296	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2971948	1.00[EUR][1000 genomes]
rs479627	1.00[EUR][1000 genomes]
rs484420	1.00[EUR][1000 genomes]
rs4847297	1.00[EUR][1000 genomes]
rs512648	1.00[EUR][1000 genomes]
rs513976	1.00[EUR][1000 genomes]
rs529642	1.00[EUR][1000 genomes]
rs59778098	1.00[EUR][1000 genomes]
rs598962	1.00[EUR][1000 genomes]
rs610088	1.00[EUR][1000 genomes]
rs630382	1.00[EUR][1000 genomes]
rs6660037	1.00[EUR][1000 genomes]
rs6673287	1.00[EUR][1000 genomes]
rs6684237	1.00[EUR][1000 genomes]
rs698945	1.00[EUR][1000 genomes]
rs7417304	1.00[EUR][1000 genomes]
rs7548077	1.00[EUR][1000 genomes]
rs768967	1.00[EUR][1000 genomes]
rs860909	1.00[EUR][1000 genomes]
rs9432270	1.00[EUR][1000 genomes]
rs9432441	1.00[EUR][1000 genomes]
rs9432688	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428510	chr1:94709575-94866655	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94787200-94795200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:94788600-94800800	Weak transcription	Pancreas	Pancrea
3	chr1:94790200-94796000	Enhancers	HMEC	breast
4	chr1:94790800-94799200	Enhancers	Fetal Heart	heart
5	chr1:94791200-94795800	Weak transcription	Right Ventricle	heart
6	chr1:94791200-94796600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:94791200-94798600	Weak transcription	Lung	lung
8	chr1:94791800-94796200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:94792400-94800200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:94792800-94796000	Enhancers	A549	lung
11	chr1:94793000-94795000	Weak transcription	HepG2	liver
12	chr1:94793000-94795800	Weak transcription	Spleen	Spleen
13	chr1:94793000-94796000	Weak transcription	Brain Angular Gyrus	brain
14	chr1:94793000-94796200	Enhancers	HUVEC	blood vessel
15	chr1:94793000-94798800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:94793200-94795200	Weak transcription	Gastric	stomach
17	chr1:94793200-94795400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:94793200-94795800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:94793200-94795800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:94793200-94796000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:94793200-94796200	Enhancers	Osteobl	bone
22	chr1:94793200-94796600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:94793200-94798600	Weak transcription	Fetal Muscle Leg	muscle
24	chr1:94793200-94800600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:94793400-94795000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:94793400-94795000	Enhancers	HSMMtube	muscle
27	chr1:94793400-94795400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:94793400-94795400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:94793400-94795400	Weak transcription	Fetal Stomach	stomach
30	chr1:94793400-94795400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:94793400-94795800	Weak transcription	Brain Anterior Caudate	brain
32	chr1:94793400-94796200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr1:94793400-94796400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:94793400-94798600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr1:94793400-94798800	Weak transcription	Placenta	Placenta
36	chr1:94793600-94796000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:94793800-94795400	Weak transcription	NHEK	skin
38	chr1:94793800-94795600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:94793800-94795600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:94793800-94795600	Weak transcription	NH-A	brain
41	chr1:94793800-94796200	Enhancers	NHDF-Ad	bronchial
42	chr1:94794000-94795000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr1:94794000-94795000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:94794000-94795400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:94794000-94795400	Weak transcription	Fetal Kidney	kidney
46	chr1:94794000-94795600	Weak transcription	Adipose Nuclei	Adipose
47	chr1:94794000-94795800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:94794200-94795400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:94794600-94795200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:94794800-94795200	Weak transcription	HSMM	muscle

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