Variant report

Variant	rs1361991
Chromosome Location	chr7:126338642-126338643
allele	A/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:126327351..126329606-chr7:126337755..126339407,2	K562	blood:
2	chr7:126313732..126316152-chr7:126338313..126341209,2	K562	blood:
3	chr7:126318252..126320938-chr7:126337348..126339547,3	K562	blood:
4	chr7:126308425..126309973-chr7:126335993..126338773,2	K562	blood:
5	chr7:126309021..126312996-chr7:126337447..126339848,3	K562	blood:
6	chr7:126310132..126312996-chr7:126337447..126339045,2	K562	blood:
7	chr7:126337265..126339812-chr7:126345257..126346866,2	K562	blood:
8	chr7:126338487..126341370-chr7:126368124..126371050,2	K562	blood:
9	chr7:126329105..126333653-chr7:126334255..126342288,12	K562	blood:

No data

No data

No data

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10225708	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10240139	1.00[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs1345210	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17613247	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17683462	0.84[CEU][hapmap];0.82[TSI][hapmap]
rs17683715	0.84[CEU][hapmap]
rs17691394	1.00[ASW][hapmap];0.92[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28693977	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529300	chr7:125669493-126587858	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1032938	chr7:126067684-126587859	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv539119	chr7:126067684-126587859	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv889187	chr7:126219766-126478190	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1032108	chr7:126278349-126362592	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1361991	CPA1	cis	parietal	SCAN
rs1361991	TMEM209	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126332400-126339000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr7:126336000-126339000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:126336400-126342800	Enhancers	NHEK	skin
4	chr7:126337000-126338800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:126337200-126339000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:126337400-126340800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr7:126337800-126342000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:126337800-126342000	Enhancers	HMEC	breast
9	chr7:126337800-126342600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:126338000-126339600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr7:126338000-126339600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:126338000-126342000	Enhancers	Hela-S3	cervix
13	chr7:126338200-126339000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:126338200-126339000	Enhancers	HUVEC	blood vessel
15	chr7:126338200-126339400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:126338600-126339000	Enhancers	GM12878-XiMat	blood
17	chr7:126338600-126340400	Enhancers	K562	blood

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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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