Variant report

Variant	rs539409111
Chromosome Location	chr1:93252455-93252456
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr1:93252045-93252596	K562	blood:	n/a	n/a
2	ZMIZ1	chr1:93252036-93252630	K562	blood:	n/a	n/a
3	NR2F2	chr1:93251954-93252480	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93248724..93252766-chr1:93297083..93300077,5	MCF-7	breast:
2	chr1:93250896..93252693-chr1:93297527..93299113,2	MCF-7	breast:
3	chr1:93250918..93254010-chr1:93306747..93309482,3	K562	blood:
4	chr1:93251113..93254538-chr1:93261545..93264232,3	K562	blood:
5	chr1:93249024..93254901-chr1:93255339..93260264,13	K562	blood:
6	chr1:93249660..93252667-chr1:93296431..93299077,5	K562	blood:
7	chr1:93251020..93253744-chr1:93303793..93305482,2	K562	blood:
8	chr1:93250962..93252670-chr1:93458393..93461376,2	K562	blood:
9	chr1:93251519..93253551-chr1:93306747..93308884,2	K562	blood:
10	chr1:93249360..93255989-chr1:93295958..93302033,8	K562	blood:

No data

No data

No data

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv947289	chr1:93251307-93276080	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 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	chr1:93250200-93256800	Weak transcription	Fetal Heart	heart
2	chr1:93250800-93252600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr1:93251200-93257200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:93251200-93257400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:93251200-93257400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:93251400-93255200	Weak transcription	Spleen	Spleen
7	chr1:93251400-93255400	Weak transcription	HepG2	liver
8	chr1:93251600-93253200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:93251600-93256800	Weak transcription	Right Atrium	heart
10	chr1:93251800-93252600	Weak transcription	Primary B cells from cord blood	blood
11	chr1:93252000-93252600	Flanking Active TSS	K562	blood
12	chr1:93252000-93253200	Enhancers	Stomach Mucosa	stomach
13	chr1:93252200-93254400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:93252200-93257400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:93252400-93252600	Bivalent Enhancer	Small Intestine	intestine
16	chr1:93252400-93257400	Weak transcription	HUVEC	blood vessel

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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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