Variant report

Variant	rs7534285
Chromosome Location	chr1:211647336-211647337
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11119745	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11119746	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11119747	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11119749	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11119751	0.82[ASW][hapmap]
rs11809922	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12076715	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12078629	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1361031	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1947058	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2184856	0.98[ASN][1000 genomes]
rs60545899	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7512666	1.00[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7527404	1.00[ASW][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7534285	C1orf74	cis	parietal	SCAN
rs7534285	CR1L	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211643600-211656200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:211643800-211647400	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:211643800-211647400	Weak transcription	Psoas Muscle	Psoas
4	chr1:211643800-211647400	Weak transcription	Right Atrium	heart
5	chr1:211643800-211647400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:211643800-211647600	Weak transcription	Adipose Nuclei	Adipose
7	chr1:211643800-211652400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:211646200-211647400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr1:211646800-211648000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:211647000-211649400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:211647200-211647800	Enhancers	Gastric	stomach
12	chr1:211647200-211647800	Enhancers	Stomach Smooth Muscle	stomach
13	chr1:211647200-211647800	Enhancers	K562	blood
14	chr1:211647200-211648000	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr1:211647200-211648000	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr1:211647200-211648000	Enhancers	A549	lung
17	chr1:211647200-211648200	Enhancers	Cortex derived primary cultured neurospheres	brain

Quick Search:

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

what's new

Quick links