Variant report

Variant	rs3775719
Chromosome Location	chr4:143349332-143349333
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10428305	0.85[ASN][1000 genomes]
rs1155075	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12499068	0.86[ASN][1000 genomes]
rs1391092	0.85[ASN][1000 genomes]
rs1497390	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1497391	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17658809	0.85[ASN][1000 genomes]
rs2840094	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3756125	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62328324	0.85[ASN][1000 genomes]
rs931636	0.86[ASN][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	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv830100	chr4:143216951-143393305	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143329000-143350000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:143338600-143366600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:143339000-143355400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr4:143345200-143351000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:143346000-143351800	Weak transcription	A549	lung
6	chr4:143346400-143353800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:143346600-143350000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:143347600-143350000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:143348200-143350000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr4:143349000-143349600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr4:143349000-143349800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:143349000-143354400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:143349000-143354600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr4:143349200-143350000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:143349200-143350000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:143349200-143350200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr4:143349200-143351600	Enhancers	HUES48 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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