Variant report

Variant	rs56905396
Chromosome Location	chr1:183964907-183964908
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:183964839..183967146-chr1:183970545..183972322,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10911479	1.00[EUR][1000 genomes]
rs13373873	1.00[EUR][1000 genomes]
rs55658841	1.00[EUR][1000 genomes]
rs56279195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59041291	1.00[EUR][1000 genomes]
rs59809579	1.00[EUR][1000 genomes]
rs60817535	1.00[EUR][1000 genomes]
rs6689337	1.00[EUR][1000 genomes]
rs6689360	1.00[EUR][1000 genomes]
rs6696380	1.00[EUR][1000 genomes]
rs74130493	1.00[EUR][1000 genomes]
rs74130494	1.00[EUR][1000 genomes]
rs74130497	1.00[EUR][1000 genomes]
rs74130498	1.00[EUR][1000 genomes]
rs74130979	1.00[EUR][1000 genomes]
rs74130983	1.00[EUR][1000 genomes]
rs74130984	1.00[EUR][1000 genomes]
rs74130991	1.00[EUR][1000 genomes]
rs7518746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7534028	1.00[EUR][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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh 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 miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv533206	chr1:183861204-184091272	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers 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 miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1006655	chr1:183922288-184186677	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv872583	chr1:183955574-184015663	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:183902600-183965200	Weak transcription	Left Ventricle	heart
2	chr1:183953000-183965200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:183953800-183965200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:183954000-183965600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:183955000-183971200	Weak transcription	Right Atrium	heart
6	chr1:183957600-183965200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:183958600-183965200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:183958600-183974200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:183958800-183971000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:183961400-183965200	Weak transcription	Brain Angular Gyrus	brain
11	chr1:183961400-183965200	Weak transcription	Pancreas	Pancrea
12	chr1:183961400-183970800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:183963000-183967000	Weak transcription	HMEC	breast
14	chr1:183963000-183969400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:183963800-183965200	Enhancers	HepG2	liver
16	chr1:183963800-183966200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr1:183964000-183966200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:183964000-183966200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:183964000-183966200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr1:183964000-183966200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr1:183964000-183966400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr1:183964200-183966200	Enhancers	Stomach Mucosa	stomach
23	chr1:183964200-183967600	Enhancers	Brain Hippocampus Middle	brain
24	chr1:183964400-183965000	Enhancers	NHLF	lung
25	chr1:183964400-183965400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:183964400-183965400	Enhancers	K562	blood
27	chr1:183964400-183966000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:183964600-183965000	Weak transcription	Brain Substantia Nigra	brain
29	chr1:183964600-183965800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:183964600-183966000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr1:183964600-183966000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:183964600-183966000	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr1:183964600-183967600	Enhancers	Fetal Heart	heart
34	chr1:183964800-183965200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:183964800-183965200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:183964800-183965200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr1:183964800-183965800	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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