Variant report

Variant	rs12132926
Chromosome Location	chr1:95111598-95111599
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95098692..95101011-chr1:95110470..95114437,3	K562	blood:
2	chr1:95104382..95108045-chr1:95108728..95112831,4	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1118429	1.00[JPT][hapmap]
rs1245481	0.85[CHD][hapmap]
rs12738550	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[ASN][1000 genomes]
rs1361868	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17112037	1.00[JPT][hapmap]
rs17403082	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs17411572	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs1782391	1.00[JPT][hapmap]
rs1809763	1.00[JPT][hapmap]
rs3814015	0.90[ASN][1000 genomes]
rs4847321	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4847322	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55923008	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66472521	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6694645	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72729586	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72729587	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs841335	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv519997	chr1:95083836-95113417	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1910	chr1:95100383-95111872	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12132926	GCLM	cis	parietal	SCAN
rs12132926	UCHL1	trans	lymphoblastoid	seeQTL
rs12132926	SLC43A1	trans	lymphoblastoid	seeQTL

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95099800-95111600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:95100800-95112000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:95102600-95111800	Weak transcription	HSMMtube	muscle
4	chr1:95103200-95111600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:95106800-95114200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:95107000-95112000	Enhancers	Hela-S3	cervix
7	chr1:95108000-95114200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:95108200-95113200	Weak transcription	Colonic Mucosa	Colon
9	chr1:95108400-95112000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:95108400-95119000	Weak transcription	Right Ventricle	heart
11	chr1:95108600-95112200	Weak transcription	Small Intestine	intestine
12	chr1:95108600-95113200	Weak transcription	Stomach Mucosa	stomach
13	chr1:95108800-95112000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:95108800-95113000	Weak transcription	Fetal Heart	heart
15	chr1:95109200-95114800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:95109200-95114800	Enhancers	HSMM	muscle
17	chr1:95109400-95114200	Enhancers	NHEK	skin
18	chr1:95109600-95113200	Weak transcription	Ovary	ovary
19	chr1:95109600-95114000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:95109600-95114200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:95109800-95112000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:95109800-95112000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:95109800-95112000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:95109800-95112000	Weak transcription	Placenta	Placenta
25	chr1:95109800-95114200	Enhancers	HMEC	breast
26	chr1:95109800-95119000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:95110000-95111600	Weak transcription	Osteobl	bone
28	chr1:95110200-95111800	Weak transcription	NHDF-Ad	bronchial
29	chr1:95110200-95112000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:95110400-95111800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:95110400-95114200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr1:95110600-95112200	Weak transcription	Lung	lung
33	chr1:95110600-95113200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr1:95110600-95113200	Weak transcription	Pancreas	Pancrea
35	chr1:95110600-95115000	Enhancers	NH-A	brain
36	chr1:95110600-95118800	Weak transcription	Fetal Intestine Large	intestine
37	chr1:95110600-95119000	Weak transcription	Fetal Intestine Small	intestine
38	chr1:95110800-95111600	Weak transcription	NHLF	lung
39	chr1:95110800-95114200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr1:95110800-95115400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr1:95111000-95111800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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