Variant report

Variant	rs17643143
Chromosome Location	chr8:8768375-8768376
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10046647	0.96[ASN][1000 genomes]
rs10046695	0.96[ASN][1000 genomes]
rs10046734	0.96[ASN][1000 genomes]
rs10046767	0.96[ASN][1000 genomes]
rs10087078	1.00[CHB][hapmap]
rs10090356	0.96[ASN][1000 genomes]
rs10093912	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.87[TSI][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10096966	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10097483	0.92[ASN][1000 genomes]
rs10100551	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10103128	0.96[ASN][1000 genomes]
rs10104541	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10109507	0.96[ASN][1000 genomes]
rs10109732	0.96[ASN][1000 genomes]
rs10112744	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11775257	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11776911	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11781521	0.92[ASN][1000 genomes]
rs11782335	0.96[ASN][1000 genomes]
rs12335134	0.96[ASN][1000 genomes]
rs17642782	0.96[ASN][1000 genomes]
rs17699608	0.96[ASN][1000 genomes]
rs2060045	1.00[CHB][hapmap]
rs28448827	0.86[ASN][1000 genomes]
rs28700973	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28742018	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56005029	0.86[ASN][1000 genomes]
rs60052734	0.89[ASN][1000 genomes]
rs7012903	0.96[ASN][1000 genomes]
rs7838663	1.00[CHB][hapmap]
rs9329171	0.96[ASN][1000 genomes]
rs9329172	0.96[ASN][1000 genomes]
rs9329173	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	esv1814108	chr8:8749990-8769708	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv1017388	chr8:8759494-8826714	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1017238	chr8:8760138-8831662	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1017715	chr8:8766881-8785883	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	esv275541	chr8:8766881-8791144	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17643143	CLDN23	cis	multi-tissue	Pritchard
rs17643143	DEFB136	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8751600-8775000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:8752800-8775000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:8758600-8775000	Weak transcription	Small Intestine	intestine
4	chr8:8759200-8770200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:8759200-8770200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr8:8762400-8769400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:8762400-8770800	Weak transcription	HUVEC	blood vessel
8	chr8:8763000-8770600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:8763200-8783200	Weak transcription	Pancreas	Pancrea
10	chr8:8766200-8769400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:8766400-8769400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:8766400-8775000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:8767200-8774400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:8768200-8768600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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