Variant report

Variant	rs12959671
Chromosome Location	chr18:12087807-12087808
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11874561	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11875015	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11875591	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11876891	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12954117	0.81[EUR][1000 genomes]
rs12960683	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12963390	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13381106	0.86[ASN][1000 genomes]
rs17594826	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34013399	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34045099	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34071448	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34652396	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34774742	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35530473	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35626710	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35640729	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35732188	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4797619	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4797621	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57698452	0.83[ASN][1000 genomes]
rs66499837	0.82[ASN][1000 genomes]
rs72879124	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8084767	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8086727	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8087542	0.81[EUR][1000 genomes]
rs8093087	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv909384	chr18:11907374-12101109	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
4	nsv909386	chr18:11938102-12095950	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv909388	chr18:11987988-12141372	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv909389	chr18:11987988-12141625	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv909390	chr18:11987988-12155371	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv909391	chr18:11989416-12146408	Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv909392	chr18:11989416-12146698	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv909393	chr18:12001258-12155371	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv909394	chr18:12017343-12141372	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
13	nsv828181	chr18:12065246-12091392	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv961151	chr18:12082154-12099861	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv909398	chr18:12083552-12121294	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv909399	chr18:12083552-12141372	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	esv3344328	chr18:12085252-12089650	Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	esv3405647	chr18:12085552-12090750	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv828182	chr18:12086983-12089097	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12077000-12095000	Weak transcription	Right Atrium	heart
2	chr18:12082600-12090200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr18:12085200-12088800	Enhancers	Esophagus	oesophagus
4	chr18:12085400-12089600	Enhancers	Pancreas	Pancrea
5	chr18:12085600-12088600	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr18:12085800-12088200	Enhancers	Colonic Mucosa	Colon
7	chr18:12085800-12089000	Enhancers	Stomach Mucosa	stomach
8	chr18:12086200-12088400	Flanking Active TSS	Hela-S3	cervix
9	chr18:12086600-12089000	Enhancers	Spleen	Spleen
10	chr18:12086800-12088800	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr18:12087000-12088200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr18:12087000-12089400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
13	chr18:12087000-12089600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr18:12087200-12089400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr18:12087600-12088600	Weak transcription	Right Ventricle	heart
16	chr18:12087600-12089000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr18:12087800-12088000	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr18:12087800-12088200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr18:12087800-12088200	Genic enhancers	Gastric	stomach
20	chr18:12087800-12089200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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