Variant report

Variant	rs943075
Chromosome Location	chr6:43922205-43922206
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:43735432..43742006-chr6:43916130..43924754,17	K562	blood:
2	chr6:43734091..43739914-chr6:43917004..43923314,11	MCF-7	breast:
3	chr6:43921597..43922213-chr6:44042193..44042960,2	MCF-7	breast:
4	chr6:43749489..43752411-chr6:43921760..43923299,2	K562	blood:
5	chr6:43917227..43922653-chr6:44039743..44042402,5	K562	blood:
6	chr6:43920600..43923050-chr6:44214180..44215994,2	K562	blood:
7	chr6:43730421..43734322-chr6:43919726..43923267,3	K562	blood:
8	chr6:43919558..43922276-chr6:43963136..43965900,2	MCF-7	breast:
9	chr6:43921540..43924196-chr6:43928349..43930358,2	MCF-7	breast:
10	chr6:43749489..43753628-chr6:43920547..43923299,3	K562	blood:
11	chr6:43693165..43696067-chr6:43921728..43924274,2	K562	blood:
12	chr6:43735367..43746902-chr6:43913394..43925044,24	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000096384	Chromatin interaction
ENSG00000237686	Chromatin interaction
ENSG00000231881	Chromatin interaction
ENSG00000272114	Chromatin interaction
ENSG00000112715	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4382251	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4481426	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4714719	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6916314	0.84[ASN][1000 genomes]
rs7745183	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7745184	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9462949	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9472158	0.82[ASN][1000 genomes]
rs9472170	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9472171	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv428480	chr6:43764313-43929172	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:43918600-43923200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr6:43918800-43923400	Enhancers	Fetal Muscle Leg	muscle
3	chr6:43919800-43922600	Weak transcription	Right Atrium	heart
4	chr6:43921000-43922800	Enhancers	Ovary	ovary
5	chr6:43921000-43923000	Enhancers	Liver	Liver
6	chr6:43921200-43922800	Enhancers	Pancreas	Pancrea
7	chr6:43921400-43922600	Enhancers	Fetal Heart	heart
8	chr6:43921600-43922800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:43921600-43922800	Enhancers	Right Ventricle	heart
10	chr6:43921600-43923000	Flanking Active TSS	HepG2	liver
11	chr6:43921800-43923000	Enhancers	Left Ventricle	heart
12	chr6:43921800-43923800	Enhancers	Psoas Muscle	Psoas
13	chr6:43922000-43922400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr6:43922000-43923000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr6:43922200-43922400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr6:43922200-43922600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr6:43922200-43922600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:43922200-43922800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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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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