Variant report

Variant	rs4694176
Chromosome Location	chr4:74519733-74519734
allele	A/C
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:74207075..74207791-chr4:74518783..74520033,4	K562	blood:
2	chr4:74459068..74460021-chr4:74518560..74520005,12	MCF-7	breast:
3	chr4:74206358..74209177-chr4:74518525..74521196,2	K562	blood:
4	chr4:74311780..74312697-chr4:74519035..74519771,3	MCF-7	breast:
5	chr4:74439128..74440023-chr4:74519184..74519993,6	MCF-7	breast:
6	chr4:74177001..74177859-chr4:74519156..74519983,3	MCF-7	breast:
7	chr4:74459032..74460045-chr4:74518650..74519866,5	MCF-7	breast:
8	chr4:74388550..74389422-chr4:74519096..74519898,2	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10019041	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1590118	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs34617010	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34700776	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4694627	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4694629	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4694632	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62312151	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62314280	0.96[ASN][1000 genomes]
rs6832422	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1012198	chr4:74487793-74621952	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv537139	chr4:74487793-74621952	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 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	chr4:74516400-74525000	Weak transcription	Stomach Mucosa	stomach
2	chr4:74516800-74521600	Enhancers	Dnd41	blood
3	chr4:74517400-74526400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:74517800-74519800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:74518600-74520000	Weak transcription	Pancreas	Pancrea
6	chr4:74518800-74521400	Enhancers	Fetal Thymus	thymus
7	chr4:74519000-74526400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:74519200-74527200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:74519400-74519800	Weak transcription	Thymus	Thymus
10	chr4:74519600-74519800	Enhancers	Brain Cingulate Gyrus	brain
11	chr4:74519600-74520000	Enhancers	HSMM	muscle
12	chr4:74519600-74520000	Enhancers	HUVEC	blood vessel
13	chr4:74519600-74520400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:74519600-74520400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:74519600-74520400	Enhancers	Liver	Liver
16	chr4:74519600-74520400	Enhancers	Brain Angular Gyrus	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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