Variant report

Variant	rs9997698
Chromosome Location	chr4:141957740-141957741
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10001746	1.00[YRI][hapmap]
rs10213645	1.00[YRI][hapmap]
rs17425634	1.00[YRI][hapmap]
rs28702710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7672934	0.81[AMR][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	nsv880167	chr4:141616979-142092124	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv830091	chr4:141796603-141980546	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9997698	C4orf49	cis	cerebellum	SCAN
rs9997698	GYPB	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:141950200-141958000	Weak transcription	Osteobl	bone
2	chr4:141953800-141962400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:141955400-141958200	Weak transcription	Fetal Brain Female	brain
4	chr4:141955400-141960800	Weak transcription	Psoas Muscle	Psoas
5	chr4:141956000-141959000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr4:141956000-141971600	Weak transcription	Fetal Muscle Leg	muscle
7	chr4:141956400-141959000	Enhancers	Colon Smooth Muscle	Colon
8	chr4:141956400-141959600	Enhancers	Fetal Lung	lung
9	chr4:141956600-141957800	Enhancers	Ovary	ovary
10	chr4:141956800-141963200	Enhancers	Fetal Heart	heart
11	chr4:141956800-141969400	Weak transcription	Left Ventricle	heart
12	chr4:141957400-141958600	Enhancers	Rectal Smooth Muscle	rectum
13	chr4:141957400-141959400	Enhancers	Adipose Nuclei	Adipose
14	chr4:141957400-141959600	Enhancers	Fetal Brain Male	brain
15	chr4:141957600-141958400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:141957600-141959000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr4:141957600-141959400	Enhancers	Duodenum Smooth Muscle	Duodenum

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

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