Variant report

Variant	rs34391152
Chromosome Location	chr22:30591881-30591882
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30590030..30593992-chr22:30596510..30599068,3	K562	blood:
2	chr22:30589990..30596479-chr22:30639909..30648381,15	MCF-7	breast:
3	chr22:30580247..30582662-chr22:30589957..30592306,3	K562	blood:
4	chr22:30578652..30582637-chr22:30590732..30593754,4	K562	blood:
5	chr11:9594464..9595108-chr22:30591798..30592673,2	Hela-S3	cervix:
6	chr22:30538829..30541820-chr22:30591024..30593094,2	K562	blood:
7	chr22:30584790..30588358-chr22:30588911..30595947,7	MCF-7	breast:
8	chr22:30587225..30588741-chr22:30589978..30592265,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268812	Chromatin interaction
ENSG00000128342	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1160671	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12233358	0.84[EUR][1000 genomes]
rs12483946	0.83[EUR][1000 genomes]
rs12484547	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12484740	0.83[EUR][1000 genomes]
rs13053765	0.84[EUR][1000 genomes]
rs13054837	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13055998	0.84[EUR][1000 genomes]
rs13056332	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13056990	0.84[EUR][1000 genomes]
rs13057204	0.84[EUR][1000 genomes]
rs13057580	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13057878	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1476514	0.84[EUR][1000 genomes]
rs2012308	0.84[EUR][1000 genomes]
rs2106430	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2106722	0.83[ASN][1000 genomes]
rs2214047	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2412977	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2412979	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34420020	0.95[EUR][1000 genomes]
rs34474867	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34545612	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35067150	0.84[EUR][1000 genomes]
rs35539897	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35710453	0.84[EUR][1000 genomes]
rs36018230	0.84[EUR][1000 genomes]
rs4820829	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4823067	0.84[EUR][1000 genomes]
rs4823071	0.84[EUR][1000 genomes]
rs4823080	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4823081	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4823082	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753002	0.84[EUR][1000 genomes]
rs5753007	0.84[EUR][1000 genomes]
rs5753013	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5753014	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5753015	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5753019	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5753020	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5753022	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5753027	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5753028	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5753029	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5753030	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5753046	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753048	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5763701	0.84[EUR][1000 genomes]
rs5763734	0.84[EUR][1000 genomes]
rs5763742	0.84[EUR][1000 genomes]
rs5763746	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];0.81[ASN][1000 genomes]
rs5763801	0.84[EUR][1000 genomes]
rs5763805	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5763810	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5763825	0.84[ASN][1000 genomes]
rs5763852	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5763854	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5763861	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5763872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6006393	1.00[ASN][1000 genomes]
rs6006399	0.95[ASN][1000 genomes]
rs7286304	0.84[EUR][1000 genomes]
rs7286681	0.84[EUR][1000 genomes]
rs7288576	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs739616	0.84[EUR][1000 genomes]
rs757026	0.84[EUR][1000 genomes]
rs766011	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs975704	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][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
rs34391152	LGALS8	trans	lymphoblastoid	RTeQTL

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30583800-30592200	Weak transcription	Small Intestine	intestine
2	chr22:30584400-30592000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr22:30588200-30593600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr22:30588600-30592000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr22:30588600-30592000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr22:30588600-30592000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr22:30588600-30592200	Weak transcription	Thymus	Thymus
8	chr22:30589000-30592000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr22:30589400-30592000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr22:30589400-30592400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr22:30590000-30592000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr22:30590400-30593400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr22:30590600-30592400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr22:30590800-30592600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr22:30590800-30593400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr22:30590800-30593600	Enhancers	Fetal Thymus	thymus
17	chr22:30591200-30592000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr22:30591200-30592000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr22:30591200-30593400	Enhancers	Stomach Mucosa	stomach
20	chr22:30591200-30593600	Enhancers	Fetal Stomach	stomach
21	chr22:30591200-30593800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr22:30591200-30593800	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr22:30591200-30595200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr22:30591400-30592000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr22:30591400-30592000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr22:30591400-30592000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr22:30591400-30592000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr22:30591400-30592000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr22:30591400-30592000	Enhancers	Primary hematopoietic stem cells	blood
30	chr22:30591400-30592000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr22:30591400-30592000	Enhancers	Duodenum Mucosa	Duodenum
32	chr22:30591400-30592000	Genic enhancers	Duodenum Smooth Muscle	Duodenum
33	chr22:30591400-30592000	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr22:30591400-30592000	Enhancers	Rectal Smooth Muscle	rectum
35	chr22:30591400-30592000	Enhancers	GM12878-XiMat	blood
36	chr22:30591400-30592000	Enhancers	K562	blood
37	chr22:30591400-30592000	Flanking Active TSS	NHDF-Ad	bronchial
38	chr22:30591400-30592200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr22:30591400-30592200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr22:30591400-30592200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr22:30591400-30592200	Flanking Active TSS	Hela-S3	cervix
42	chr22:30591400-30592400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr22:30591400-30592400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr22:30591400-30592600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr22:30591400-30592600	Enhancers	Brain Anterior Caudate	brain
46	chr22:30591400-30592600	Enhancers	Esophagus	oesophagus
47	chr22:30591400-30592600	Enhancers	Pancreas	Pancrea
48	chr22:30591400-30592600	Flanking Active TSS	HepG2	liver
49	chr22:30591400-30592800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr22:30591400-30592800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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