Variant report

Variant	rs2106430
Chromosome Location	chr22:30597135-30597136
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	chr22:30590030..30593992-chr22:30596510..30599068,3	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1160671	0.84[EUR][1000 genomes]
rs12233358	0.84[EUR][1000 genomes]
rs12483946	1.00[CEU][hapmap];0.92[CHB][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12484547	0.84[EUR][1000 genomes]
rs12484740	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12484983	0.81[CHB][hapmap]
rs13053765	0.84[EUR][1000 genomes]
rs13054837	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13055998	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs13056332	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13056990	0.84[EUR][1000 genomes]
rs13057204	0.84[EUR][1000 genomes]
rs13057580	0.84[EUR][1000 genomes]
rs13057878	0.95[EUR][1000 genomes]
rs1476514	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs2012308	0.84[EUR][1000 genomes]
rs2214047	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2412977	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2412979	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34391152	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34420020	0.95[EUR][1000 genomes]
rs34474867	0.95[EUR][1000 genomes]
rs34545612	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35067150	0.84[EUR][1000 genomes]
rs35539897	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35710453	0.84[EUR][1000 genomes]
rs36018230	0.84[EUR][1000 genomes]
rs4820829	0.84[EUR][1000 genomes]
rs4823067	0.84[EUR][1000 genomes]
rs4823071	0.84[EUR][1000 genomes]
rs4823080	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4823081	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4823082	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753002	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[EUR][1000 genomes]
rs5753007	0.84[EUR][1000 genomes]
rs5753013	0.84[EUR][1000 genomes]
rs5753014	1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[GIH][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs5753015	0.84[EUR][1000 genomes]
rs5753019	0.84[EUR][1000 genomes]
rs5753020	0.84[EUR][1000 genomes]
rs5753022	0.84[EUR][1000 genomes]
rs5753027	0.84[EUR][1000 genomes]
rs5753028	0.95[EUR][1000 genomes]
rs5753029	0.95[EUR][1000 genomes]
rs5753030	0.95[EUR][1000 genomes]
rs5753046	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753048	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5763695	1.00[CEU][hapmap]
rs5763701	1.00[CEU][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs5763734	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs5763742	0.84[EUR][1000 genomes]
rs5763746	1.00[CEU][hapmap];0.92[CHB][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs5763748	0.84[EUR][1000 genomes]
rs5763750	0.84[EUR][1000 genomes]
rs5763759	0.84[EUR][1000 genomes]
rs5763763	0.84[EUR][1000 genomes]
rs5763766	0.84[EUR][1000 genomes]
rs5763769	0.84[EUR][1000 genomes]
rs5763774	0.84[EUR][1000 genomes]
rs5763782	0.84[EUR][1000 genomes]
rs5763788	0.84[EUR][1000 genomes]
rs5763801	0.84[EUR][1000 genomes]
rs5763805	0.84[EUR][1000 genomes]
rs5763810	0.84[EUR][1000 genomes]
rs5763852	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5763854	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5763861	0.95[EUR][1000 genomes]
rs5763872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6006393	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[ASN][1000 genomes]
rs6006399	1.00[ASN][1000 genomes]
rs718773	0.92[CHB][hapmap]
rs7286304	0.84[EUR][1000 genomes]
rs7286681	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[EUR][1000 genomes]
rs7288576	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs739616	0.84[EUR][1000 genomes]
rs757026	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs766011	1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs8142101	1.00[CEU][hapmap]
rs916807	1.00[CEU][hapmap]
rs975704	1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[GIH][hapmap];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv432239	chr22:30580161-30669883	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2106430	LGALS8	trans	lymphoblastoid	RTeQTL

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30591800-30597400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:30592000-30601400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr22:30592600-30598200	Weak transcription	Esophagus	oesophagus
4	chr22:30592800-30598000	Weak transcription	Gastric	stomach
5	chr22:30592800-30602800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr22:30592800-30604800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr22:30593000-30598000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr22:30593200-30598000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr22:30593200-30598200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr22:30593200-30598600	Weak transcription	Lung	lung
11	chr22:30593200-30600600	Weak transcription	Spleen	Spleen
12	chr22:30593400-30597800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr22:30593400-30598200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr22:30593400-30598600	Weak transcription	Placenta	Placenta
15	chr22:30593600-30597800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr22:30593600-30597800	Weak transcription	Fetal Stomach	stomach
17	chr22:30593600-30598200	Weak transcription	HSMMtube	muscle
18	chr22:30593600-30598400	Weak transcription	Fetal Intestine Large	intestine
19	chr22:30593600-30598600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr22:30593600-30600800	Weak transcription	Small Intestine	intestine
21	chr22:30593600-30603000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr22:30593800-30597400	Enhancers	A549	lung
23	chr22:30593800-30597800	Weak transcription	Fetal Kidney	kidney
24	chr22:30593800-30598000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr22:30593800-30600400	Weak transcription	Osteobl	bone
26	chr22:30594400-30597800	Weak transcription	NH-A	brain
27	chr22:30594400-30598600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr22:30594800-30597800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr22:30594800-30597800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr22:30594800-30597800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr22:30594800-30597800	Weak transcription	NHDF-Ad	bronchial
32	chr22:30595000-30597800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr22:30595000-30597800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr22:30595000-30600400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr22:30595200-30597800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr22:30595200-30597800	Weak transcription	NHEK	skin
37	chr22:30595200-30598200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr22:30595400-30598200	Weak transcription	Fetal Thymus	thymus
39	chr22:30595600-30600800	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr22:30597000-30597200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr22:30597000-30597200	Enhancers	Stomach Mucosa	stomach
42	chr22:30597000-30598200	Weak transcription	Pancreas	Pancrea
43	chr22:30597000-30598400	Enhancers	Hela-S3	cervix

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