Variant report

Variant	rs6703323
Chromosome Location	chr1:175045334-175045335
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11805690	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11808695	1.00[ASN][1000 genomes]
rs4651307	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651308	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57928330	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61742080	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658058	1.00[ASN][1000 genomes]
rs6675759	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6686400	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6691555	1.00[ASN][1000 genomes]
rs6691857	1.00[ASN][1000 genomes]
rs73044972	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73044981	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543595	1.00[ASN][1000 genomes]

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	nsv1012861	chr1:175021780-175063160	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv535210	chr1:175021780-175063160	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv825487	chr1:175031609-175113572	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr1:175039800-175046600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr1:175042400-175050600	Weak transcription	Spleen	Spleen
3	chr1:175043000-175045400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:175043200-175057400	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:175043200-175058600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:175043400-175046200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:175043800-175046000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:175044000-175045400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:175044200-175046400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:175044200-175049400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:175044800-175045400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:175044800-175045400	Enhancers	Dnd41	blood
13	chr1:175044800-175047000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:175045000-175045600	Bivalent Enhancer	GM12878-XiMat	blood
15	chr1:175045000-175045800	Enhancers	Primary hematopoietic stem cells	blood
16	chr1:175045200-175045400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:175045200-175045400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr1:175045200-175045400	Enhancers	Right Ventricle	heart
19	chr1:175045200-175045800	Enhancers	HUES64 Cell Line	embryonic stem cell

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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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