Variant report

Variant	rs543646340
Chromosome Location	chr1:210404885-210404886
allele	C/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:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210398376..210400495-chr1:210402941..210405832,2	K562	blood:
2	chr1:210404317..210408653-chr1:210545033..210548956,7	MCF-7	breast:
3	chr1:210404553..210406882-chr6:30538400..30541136,2	MCF-7	breast:
4	chr1:210402586..210405079-chr1:210405490..210408376,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf133-2	chr1:210404804-210405116	NONHSAT009251
2	lnc-C1orf133-2	chr1:210404801-210405116	ENSG00000203706.4
3	lnc-C1orf133-2	chr1:210404801-210405116	ENSG00000203706.4

No data

No data

Variant related genes	Relation type
ENSG00000200972	Chromatin interaction
ENSG00000082497	Chromatin interaction
ENSG00000203706	Chromatin interaction
ENSG00000204574	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	esv3422029	chr1:210404854-210407702	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210397200-210405000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:210400200-210405000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:210403800-210405200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:210403800-210405600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:210403800-210405600	Enhancers	NHEK	skin
6	chr1:210404200-210405000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:210404200-210405200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:210404400-210405200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
9	chr1:210404400-210405200	Enhancers	Colon Smooth Muscle	Colon
10	chr1:210404400-210405200	Enhancers	Rectal Smooth Muscle	rectum
11	chr1:210404400-210405600	Bivalent Enhancer	Fetal Heart	heart

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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

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