Variant report

Variant	rs67247240
Chromosome Location	chr1:70838753-70838754
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs12024618	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12737635	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12751831	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1327874	0.84[ASN][1000 genomes]
rs35901050	0.82[ASN][1000 genomes]
rs35937688	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4620474	0.82[ASN][1000 genomes]
rs495581	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57235139	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58199431	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs998522	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]

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	nsv999219	chr1:70730556-71014911	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv830137	chr1:70765921-70958718	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70821200-70841400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:70821600-70839000	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:70822000-70839400	Weak transcription	Brain Substantia Nigra	brain
4	chr1:70827800-70839800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:70828400-70841000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:70835400-70838800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:70837200-70838800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:70837200-70839600	Weak transcription	Left Ventricle	heart
9	chr1:70837200-70846600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:70838200-70840200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:70838400-70838800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr1:70838400-70839000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr1:70838400-70839200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr1:70838400-70840000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr1:70838400-70840000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:70838400-70840000	Weak transcription	Ovary	ovary
17	chr1:70838600-70840200	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:70838600-70849200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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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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