Variant report

Variant	rs74128541
Chromosome Location	chr1:174999453-174999454
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:174999004..175000511-chr1:175003802..175005678,2	MCF-7	breast:
2	chr1:174998987..174999569-chr1:175099097..175100136,3	MCF-7	breast:
3	chr1:174998838..174999575-chr1:175094140..175095082,5	MCF-7	breast:
4	chr1:174998565..174999544-chr1:175288462..175289441,6	K562	blood:
5	chr1:174998932..175000552-chr1:175032819..175035419,2	MCF-7	breast:
6	chr1:174998905..174999499-chr1:175115519..175116507,5	MCF-7	breast:
7	chr1:174991178..174995675-chr1:174996166..175000159,7	K562	blood:
8	chr1:174996925..174999864-chr1:175103834..175106486,2	K562	blood:
9	chr1:174998638..174999503-chr1:175094151..175094986,4	K562	blood:
10	chr1:174967869..174969561-chr1:174997515..175001267,3	K562	blood:
11	chr1:174992825..174995632-chr1:174996081..174999511,5	MCF-7	breast:
12	chr1:174998349..175001108-chr1:175001505..175005015,4	K562	blood:
13	chr1:174738823..174739778-chr1:174998610..174999515,2	K562	blood:
14	chr1:174997750..174999766-chr1:175188869..175190673,2	MCF-7	breast:
15	chr1:174998367..175000199-chr1:175006049..175008885,2	K562	blood:

No data

No data

No data

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs55906122	1.00[AMR][1000 genomes]
rs61581018	1.00[AMR][1000 genomes]
rs74126879	1.00[AMR][1000 genomes]
rs74126885	1.00[AMR][1000 genomes]
rs74126888	1.00[AMR][1000 genomes]
rs74126893	1.00[AMR][1000 genomes]
rs74126900	1.00[AMR][1000 genomes]
rs74126902	1.00[AMR][1000 genomes]
rs74128531	1.00[AMR][1000 genomes]
rs74128543	1.00[AMR][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	nsv947512	chr1:174984818-175000909	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174993200-175004800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:174993200-175013800	Weak transcription	Spleen	Spleen
3	chr1:174998200-175001800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:174998600-174999600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:174998800-175003800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:174999000-175000000	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr1:174999000-175004000	Weak transcription	HMEC	breast
8	chr1:174999000-175005000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:174999200-175000000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr1:174999200-175000400	Weak transcription	Adipose Nuclei	Adipose
11	chr1:174999200-175000400	Weak transcription	Lung	lung
12	chr1:174999200-175001800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:174999400-175002200	Weak transcription	Fetal Brain Male	brain
14	chr1:174999400-175003200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:174999400-175005000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:174999400-175006400	Weak transcription	Primary monocytes fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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