Variant report

Variant	rs74130979
Chromosome Location	chr1:183960216-183960217
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:183955994..183963438-chr1:184018687..184025701,10	K562	blood:
2	chr1:183958599..183960225-chr1:183979032..183981133,2	K562	blood:
3	chr1:183960151..183962880-chr14:24605342..24606992,2	MCF-7	breast:
4	chr1:183958400..183961976-chr1:183962381..183964595,3	MCF-7	breast:
5	chr1:183958819..183961502-chr1:183969906..183972201,2	K562	blood:
6	chr1:183603606..183605390-chr1:183959192..183961491,2	K562	blood:

Variant related genes	Relation type
ENSG00000143344	Chromatin interaction
ENSG00000198860	Chromatin interaction
ENSG00000092010	Chromatin interaction
ENSG00000162704	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10911479	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13373873	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55658841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56279195	1.00[EUR][1000 genomes]
rs56905396	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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];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[EUR][1000 genomes]
rs7534028	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832026	chr1:183785065-183961847	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:183902600-183965200	Weak transcription	Left Ventricle	heart
2	chr1:183923200-183961000	Weak transcription	Pancreas	Pancrea
3	chr1:183953000-183965200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:183953800-183965200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:183954000-183965600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:183955000-183971200	Weak transcription	Right Atrium	heart
7	chr1:183956800-183962400	Weak transcription	HSMMtube	muscle
8	chr1:183957000-183961000	Weak transcription	Psoas Muscle	Psoas
9	chr1:183957600-183965200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:183958200-183963000	Enhancers	Stomach Mucosa	stomach
11	chr1:183958400-183964600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:183958600-183960600	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:183958600-183965200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:183958600-183974200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:183958800-183960600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:183958800-183960600	Weak transcription	Brain Angular Gyrus	brain
17	chr1:183958800-183960600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:183958800-183960600	Weak transcription	Brain Substantia Nigra	brain
19	chr1:183958800-183961000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr1:183958800-183961000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:183958800-183962400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:183958800-183962400	Weak transcription	HMEC	breast
23	chr1:183958800-183962600	Enhancers	K562	blood
24	chr1:183958800-183963200	Enhancers	HepG2	liver
25	chr1:183958800-183964400	Weak transcription	NHLF	lung
26	chr1:183958800-183964600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:183958800-183971000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:183959400-183961400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:183960000-183961400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr1:183960200-183961000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links