Variant report

Variant	rs9493054
Chromosome Location	chr6:132009835-132009836
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10081029	1.00[AMR][1000 genomes]
rs6931997	0.80[YRI][hapmap]
rs6933299	0.93[YRI][hapmap]
rs9321309	0.92[YRI][hapmap]
rs9483309	1.00[AMR][1000 genomes]
rs9483313	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9483314	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9483315	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9483322	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9493029	1.00[AMR][1000 genomes]
rs9493039	1.00[AMR][1000 genomes]
rs9493043	0.80[YRI][hapmap]

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	nsv515476	chr6:131615425-132228577	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv830809	chr6:131953928-132126417	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv830810	chr6:131960923-132138396	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	nsv886669	chr6:131991532-132059074	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131993600-132020600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr6:131998600-132054000	Weak transcription	Fetal Intestine Small	intestine
3	chr6:131998800-132043000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr6:131999200-132017600	Weak transcription	Fetal Intestine Large	intestine
5	chr6:131999400-132020600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:132000000-132014400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:132002600-132054400	Weak transcription	K562	blood
8	chr6:132005400-132011200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr6:132007000-132010400	Weak transcription	GM12878-XiMat	blood
10	chr6:132008200-132013000	Enhancers	Primary B cells from cord blood	blood
11	chr6:132008400-132013600	Enhancers	Primary B cells from peripheral blood	blood
12	chr6:132009400-132010000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr6:132009600-132011200	Weak transcription	HepG2	liver
14	chr6:132009800-132010200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:132009800-132010400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr6:132009800-132013200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr6:132009800-132014400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr6:132009800-132014600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr6:132009800-132014800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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