Variant report

Variant	rs73042427
Chromosome Location	chr2:189392267-189392268
allele	A/T
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	chr2:189392074-189392329	HepG2	liver:	n/a	chr2:189392180-189392191 chr2:189392180-189392195 chr2:189392180-189392191 chr2:189392179-189392193 chr2:189392183-189392200 chr2:189392180-189392196
2	STAT3	chr2:189392262-189392462	MCF10A-Er-Src	breast:	n/a	n/a
3	MAFK	chr2:189392102-189392296	HepG2	liver:	n/a	chr2:189392180-189392191 chr2:189392180-189392195 chr2:189392180-189392191 chr2:189392179-189392193 chr2:189392183-189392200 chr2:189392180-189392196

Variant related genes	Relation type
GULP1	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11679949	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11685643	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56891673	0.82[AFR][1000 genomes]
rs57067423	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57246854	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73040476	0.83[AMR][1000 genomes]
rs73040484	0.83[AMR][1000 genomes]
rs73040494	0.83[AMR][1000 genomes]
rs73040496	0.83[AMR][1000 genomes]
rs73040500	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73040502	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73042418	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73042420	0.83[AFR][1000 genomes]
rs73042428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73042430	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73042433	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73042451	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7421510	0.97[AFR][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	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv834489	chr2:189329027-189494224	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv533110	chr2:189354436-189462552	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189329200-189399000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:189371800-189394000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:189381000-189394200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:189382400-189393600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:189382400-189394000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:189382800-189394800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:189383200-189422000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:189383200-189423800	Weak transcription	Placenta	Placenta
9	chr2:189384800-189395000	Weak transcription	Gastric	stomach
10	chr2:189384800-189442200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:189385400-189396400	Weak transcription	Psoas Muscle	Psoas
12	chr2:189387800-189404000	Weak transcription	A549	lung
13	chr2:189388000-189393000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:189388200-189434000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:189388800-189394200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:189391000-189392600	Enhancers	HUVEC	blood vessel
17	chr2:189391000-189393000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:189391200-189392600	Enhancers	NHLF	lung
19	chr2:189391200-189392800	Enhancers	Fetal Lung	lung
20	chr2:189391400-189392600	Enhancers	Brain Germinal Matrix	brain
21	chr2:189391600-189392600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr2:189391600-189392800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:189391600-189392800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:189391600-189392800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:189391800-189392600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:189391800-189392600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:189391800-189392800	Active TSS	Right Atrium	heart
28	chr2:189391800-189395600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:189392000-189392800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:189392000-189392800	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr2:189392000-189392800	Active TSS	Stomach Smooth Muscle	stomach
32	chr2:189392000-189392800	Flanking Active TSS	NHDF-Ad	bronchial
33	chr2:189392200-189392400	Enhancers	Adipose Nuclei	Adipose
34	chr2:189392200-189392600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:189392200-189392600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:189392200-189392600	Active TSS	Colon Smooth Muscle	Colon
37	chr2:189392200-189392600	Enhancers	Ovary	ovary
38	chr2:189392200-189392800	Active TSS	Aorta	Aorta
39	chr2:189392200-189392800	Active TSS	Fetal Muscle Leg	muscle
40	chr2:189392200-189392800	Flanking Active TSS	Fetal Stomach	stomach
41	chr2:189392200-189392800	Active TSS	Rectal Smooth Muscle	rectum
42	chr2:189392200-189394400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:189392200-189395600	Weak transcription	HSMM	muscle

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