Variant report

Variant	rs16998552
Chromosome Location	chr4:143351246-143351247
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10519657	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16998554	1.00[MEX][hapmap];0.85[MKK][hapmap]
rs56305220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6820463	0.86[ASW][hapmap];0.91[LWK][hapmap];0.96[YRI][hapmap];0.88[AFR][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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143338600-143366600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:143339000-143355400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr4:143346000-143351800	Weak transcription	A549	lung
4	chr4:143346400-143353800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:143349000-143354400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr4:143349000-143354600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr4:143349200-143351600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:143350000-143352400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:143350000-143355400	Weak transcription	Fetal Heart	heart
10	chr4:143350000-143356200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr4:143350000-143356200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:143350200-143356000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr4:143351200-143354800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr4:143351200-143364800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:143351200-143371200	Weak transcription	Pancreas	Pancrea

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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