Variant report

Variant	rs6988918
Chromosome Location	chr8:19605096-19605097
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10503663	1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3735957	1.00[CHB][hapmap]
rs73202524	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1021575	chr8:19430653-19623452	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1021731	chr8:19515149-19643313	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6988918	CEMP1	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19588600-19613400	Weak transcription	Pancreas	Pancrea
2	chr8:19602400-19605400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr8:19603000-19605400	ZNF genes & repeats	Primary B cells from cord blood	blood
4	chr8:19603000-19605600	ZNF genes & repeats	A549	lung
5	chr8:19603800-19610800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr8:19603800-19613800	Weak transcription	Ovary	ovary
7	chr8:19604000-19605600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
8	chr8:19604000-19607800	Weak transcription	Left Ventricle	heart
9	chr8:19604400-19605200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr8:19604400-19605400	Enhancers	Placenta	Placenta
11	chr8:19604400-19605600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:19604600-19606800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr8:19604600-19610000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr8:19604600-19614000	Weak transcription	Aorta	Aorta
15	chr8:19604800-19605200	Enhancers	NHEK	skin
16	chr8:19604800-19605400	Enhancers	Hela-S3	cervix
17	chr8:19604800-19605600	Enhancers	HMEC	breast
18	chr8:19604800-19614000	Weak transcription	Spleen	Spleen
19	chr8:19605000-19612000	Weak transcription	Primary hematopoietic stem cells	blood

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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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