Variant report

Variant	rs57043956
Chromosome Location	chr1:46957984-46957985
allele	A/G
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	chr1:46956868..46959415-chr1:46973779..46975325,2	K562	blood:
2	chr1:46957824..46960090-chr1:46991984..46994701,2	K562	blood:
3	chr1:46947461..46949136-chr1:46957171..46959543,2	K562	blood:
4	chr1:46950640..46959255-chr1:46986389..46991936,15	K562	blood:
5	chr1:46957380..46959214-chr1:46963494..46965951,2	K562	blood:
6	chr1:46956753..46958368-chr1:46973825..46976244,2	K562	blood:
7	chr1:46957792..46960290-chr1:46997960..47000154,2	K562	blood:
8	chr1:46946474..46949627-chr1:46956674..46960959,4	K562	blood:

No data

No data

No data

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2209171	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs59450915	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs59809955	0.90[AMR][1000 genomes]
rs60736242	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6677677	0.81[EUR][1000 genomes]
rs72892774	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1000562	chr1:46832451-47027044	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1015045	chr1:46910546-47067492	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv534952	chr1:46910546-47067492	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1009193	chr1:46939999-47085667	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46956000-46958200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
2	chr1:46956000-46960600	Weak transcription	Gastric	stomach
3	chr1:46956400-46958000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
4	chr1:46956400-46959800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:46956600-46959200	Weak transcription	Right Atrium	heart
6	chr1:46956600-46960800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:46956800-46960600	Weak transcription	Pancreas	Pancrea
8	chr1:46957400-46958200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
9	chr1:46957400-46958400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
10	chr1:46957400-46958400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
11	chr1:46957600-46958000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
12	chr1:46957600-46958000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:46957600-46958400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:46957600-46958600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
15	chr1:46957800-46958000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
16	chr1:46957800-46958000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:46957800-46958000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:46957800-46958200	Enhancers	K562	blood
19	chr1:46957800-46958400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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