Variant report

Variant	rs7747512
Chromosome Location	chr6:44307569-44307570
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:44299856..44303347-chr6:44304768..44307907,5	K562	blood:
2	chr6:44231961..44235036-chr6:44304302..44308085,4	MCF-7	breast:
3	chr6:44295218..44297676-chr6:44304954..44307920,2	K562	blood:
4	chr6:44247321..44249117-chr6:44305925..44308606,2	K562	blood:
5	chr6:44062217..44064228-chr6:44306668..44309028,2	K562	blood:
6	chr6:44279477..44281866-chr6:44305528..44307591,2	K562	blood:
7	chr6:44306430..44308872-chr6:44310895..44313358,2	K562	blood:
8	chr6:44229471..44232092-chr6:44306709..44308642,2	K562	blood:
9	chr6:44233695..44236268-chr6:44306586..44308563,3	K562	blood:
10	chr6:44235419..44235959-chr6:44307130..44307772,2	MCF-7	breast:
11	chr6:44236483..44238229-chr6:44307349..44309648,2	K562	blood:
12	chr6:44214075..44216789-chr6:44305650..44307657,3	MCF-7	breast:
13	chr6:44222748..44225647-chr6:44303433..44307988,6	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000124608	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000146232	Chromatin interaction
ENSG00000178233	Chromatin interaction
ENSG00000157593	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16871769	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap]
rs67123029	0.98[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9369477	0.95[YRI][hapmap];0.94[AFR][1000 genomes]
rs9369479	1.00[CHB][hapmap];1.00[GIH][hapmap]
rs9381311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9381312	0.92[ASN][1000 genomes]
rs9395006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9395007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	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

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44302600-44309600	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr6:44305400-44310400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:44306000-44307600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr6:44306200-44309200	Weak transcription	Brain Germinal Matrix	brain
5	chr6:44306400-44307800	Enhancers	Liver	Liver
6	chr6:44306800-44309200	Weak transcription	K562	blood
7	chr6:44307000-44308200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:44307000-44308400	Enhancers	HMEC	breast
9	chr6:44307200-44307800	Enhancers	Gastric	stomach
10	chr6:44307400-44307600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr6:44307400-44307600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:44307400-44307600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:44307400-44307800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:44307400-44308200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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