Variant report

Variant	rs370774
Chromosome Location	chr12:50434229-50434230
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: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	chr12:50418205..50421053-chr12:50433910..50435786,2	K562	blood:
2	chr12:50433499..50435726-chr12:50478291..50480435,2	K562	blood:
3	chr12:50433562..50437673-chr12:50462819..50466890,3	K562	blood:
4	chr12:50423907..50426883-chr12:50433411..50436137,3	MCF-7	breast:
5	chr12:50433237..50435843-chr12:50478882..50480489,2	K562	blood:
6	chr12:50432725..50434312-chr12:50449330..50450437,10	MCF-7	breast:
7	chr12:50432739..50435190-chr12:50449417..50450489,14	K562	blood:
8	chr12:50431093..50436094-chr12:50443171..50446761,5	K562	blood:

No data

No data

No data

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10161020	0.82[CHB][hapmap]
rs192704	1.00[EUR][1000 genomes]
rs1967110	1.00[EUR][1000 genomes]
rs296751	1.00[EUR][1000 genomes]
rs296752	1.00[EUR][1000 genomes]
rs438304	1.00[EUR][1000 genomes]
rs598144	1.00[EUR][1000 genomes]
rs602772	1.00[EUR][1000 genomes]
rs629874	1.00[EUR][1000 genomes]
rs694851	0.86[CHB][hapmap]
rs9630300	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	nsv469374	chr12:50349765-50467769	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv469375	chr12:50349765-50467769	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv558837	chr12:50349765-50467769	Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer 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	66 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	chr12:50427000-50434800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:50432600-50434400	Enhancers	Placenta Amnion	Placenta Amnion
3	chr12:50432600-50434800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:50432600-50438000	Enhancers	K562	blood
5	chr12:50433000-50434400	Enhancers	Fetal Muscle Trunk	muscle
6	chr12:50433000-50435400	Enhancers	Placenta	Placenta
7	chr12:50433200-50434600	Enhancers	Esophagus	oesophagus
8	chr12:50433200-50435000	Enhancers	Fetal Muscle Leg	muscle
9	chr12:50433400-50435000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:50433400-50443800	Weak transcription	Spleen	Spleen
11	chr12:50433600-50434400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:50434200-50434600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:50434200-50434800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:50434200-50435000	Bivalent Enhancer	Fetal Stomach	stomach

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links