Variant report

Variant	rs10206082
Chromosome Location	chr2:100160024-100160025
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11123787	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17765112	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs10206082	MITD1	cis	parietal	SCAN
rs10206082	LIPT1	cis	cerebellum	SCAN
rs10206082	TSGA10	cis	cerebellum	SCAN
rs10206082	REV1	Cis_1M	lymphoblastoid	RTeQTL
rs10206082	LIPT1	cis	parietal	SCAN
rs10206082	IL1R2	cis	cerebellum	SCAN
rs10206082	IL1R2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100154600-100161000	Weak transcription	Primary B cells from cord blood	blood
2	chr2:100155000-100160200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:100157400-100162200	Enhancers	Fetal Heart	heart
4	chr2:100157600-100161400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:100157800-100166200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:100158200-100161800	Enhancers	Stomach Smooth Muscle	stomach
7	chr2:100158600-100189200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:100159000-100161400	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:100159000-100173400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:100159200-100160600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:100159400-100162800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:100159400-100166800	Weak transcription	Spleen	Spleen
13	chr2:100159400-100167000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:100159600-100160200	Enhancers	Fetal Stomach	stomach
15	chr2:100159800-100164800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr2:100160000-100162000	Weak transcription	Primary T cells from cord blood	blood
17	chr2:100160000-100165400	Weak transcription	Fetal Brain Female	brain

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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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