Variant report

Variant	rs2074934
Chromosome Location	chr7:39446544-39446545
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10248165	0.95[GIH][hapmap];0.80[EUR][1000 genomes]
rs10269183	0.84[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10951603	0.83[GIH][hapmap]
rs17619647	1.00[CHB][hapmap];0.95[CHD][hapmap];0.96[ASN][1000 genomes]
rs1990243	0.84[GIH][hapmap]
rs2024100	1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.97[ASN][1000 genomes]
rs2237400	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237401	0.98[ASN][1000 genomes]
rs2299133	0.81[YRI][hapmap]
rs57694192	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61223906	0.90[AFR][1000 genomes]
rs6462916	0.88[CEU][hapmap];0.90[CHB][hapmap]
rs7792157	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs917401	0.80[EUR][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	nsv1021180	chr7:39424988-39642261	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1026951	chr7:39429036-39642261	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv981456	chr7:39431071-39454006	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2074934	CDK13	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39441000-39447200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr7:39441400-39446600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr7:39445400-39447200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:39445400-39447400	Enhancers	Fetal Kidney	kidney
5	chr7:39445400-39447600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:39445800-39446600	Flanking Active TSS	HepG2	liver
7	chr7:39446000-39447000	Enhancers	Fetal Muscle Trunk	muscle
8	chr7:39446000-39447600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:39446000-39447800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr7:39446200-39447600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr7:39446200-39447600	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr7:39446200-39447800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:39446200-39447800	Enhancers	Fetal Intestine Small	intestine
14	chr7:39446200-39448200	Enhancers	Fetal Intestine Large	intestine
15	chr7:39446400-39446600	Enhancers	A549	lung
16	chr7:39446400-39447800	Enhancers	Fetal Muscle Leg	muscle
17	chr7:39446400-39453400	Weak transcription	Pancreas	Pancrea

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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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