Variant report

Variant	rs5763861
Chromosome Location	chr22:30580349-30580350
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30578652..30582637-chr22:30590732..30593754,4	K562	blood:
2	chr22:30578196..30581092-chr22:30585737..30587811,3	MCF-7	breast:
3	chr22:30578823..30581368-chr22:30643689..30645542,2	MCF-7	breast:
4	chr22:30570903..30573377-chr22:30579968..30581667,2	MCF-7	breast:
5	chr22:30580247..30582662-chr22:30589957..30592306,3	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1122239	0.83[ASN][1000 genomes]
rs1160671	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12233358	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12483946	0.92[CHB][hapmap]
rs12484547	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12484740	1.00[CEU][hapmap]
rs12484983	0.81[CHB][hapmap]
rs13053765	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13054837	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13055998	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[EUR][1000 genomes]
rs13056332	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13056990	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13057204	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13057580	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13057733	0.82[ASN][1000 genomes]
rs13057878	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1476514	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2010916	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2012308	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2106430	0.95[EUR][1000 genomes]
rs2106722	0.95[ASN][1000 genomes]
rs2214047	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412977	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412979	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34391152	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34420020	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34474867	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34545612	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35067150	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35539897	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35710453	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36018230	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3788422	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs4820829	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4823067	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4823071	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4823080	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4823081	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4823082	0.95[EUR][1000 genomes]
rs5753002	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5753007	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5753013	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753015	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753019	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753020	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753022	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753027	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753028	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753029	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753046	0.95[EUR][1000 genomes]
rs5763629	1.00[AFR][1000 genomes]
rs5763662	1.00[AFR][1000 genomes]
rs5763681	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs5763695	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs5763701	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[EUR][1000 genomes]
rs5763734	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5763742	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5763746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5763748	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5763749	0.85[ASN][1000 genomes]
rs5763750	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5763758	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs5763759	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5763763	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5763766	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5763769	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5763774	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5763782	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5763787	0.91[ASN][1000 genomes]
rs5763788	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5763801	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5763805	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5763810	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5763825	0.97[ASN][1000 genomes]
rs5763852	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763854	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763872	1.00[CEU][hapmap];0.93[CHB][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6006393	0.92[CHB][hapmap];0.84[ASN][1000 genomes]
rs718773	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7286304	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7286681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7288576	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs739616	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs757026	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs766011	0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8142101	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs916807	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs975704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv588884	chr22:30494371-30590026	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	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
5	nsv527188	chr22:30529741-30581722	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv524628	chr22:30575163-30581722	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	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
rs5763861	LGALS8	trans	lymphoblastoid	RTeQTL

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30574400-30583600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr22:30575000-30583600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr22:30575400-30584400	Enhancers	Primary hematopoietic stem cells	blood
4	chr22:30575400-30584800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr22:30575600-30583400	Weak transcription	Primary T cells from cord blood	blood
6	chr22:30575600-30584600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr22:30576200-30588000	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr22:30577600-30589600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr22:30577600-30591400	Enhancers	A549	lung
10	chr22:30578000-30585600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr22:30578200-30584800	Weak transcription	Spleen	Spleen
12	chr22:30578400-30580800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr22:30578400-30581000	Enhancers	Dnd41	blood
14	chr22:30578400-30581400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr22:30578600-30580600	Weak transcription	Stomach Mucosa	stomach
16	chr22:30578600-30581000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr22:30578600-30581000	Weak transcription	Small Intestine	intestine
18	chr22:30578600-30581200	Weak transcription	Fetal Stomach	stomach
19	chr22:30578800-30581000	Weak transcription	Pancreas	Pancrea
20	chr22:30579000-30585400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr22:30579200-30580400	Enhancers	Osteobl	bone
22	chr22:30579200-30581200	Enhancers	HSMMtube	muscle
23	chr22:30579200-30585400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr22:30579400-30581200	Enhancers	HSMM	muscle
25	chr22:30579400-30581600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr22:30579600-30580400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr22:30579600-30580600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr22:30579600-30580600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr22:30579600-30582000	Weak transcription	Fetal Intestine Large	intestine
30	chr22:30579600-30584800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr22:30579600-30591400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr22:30579800-30581400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr22:30579800-30582800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr22:30579800-30585400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr22:30580000-30580400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr22:30580000-30580400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr22:30580000-30582200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr22:30580000-30584600	Weak transcription	NHLF	lung
39	chr22:30580000-30585400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr22:30580000-30586400	Weak transcription	Fetal Thymus	thymus
41	chr22:30580000-30588200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr22:30580200-30580600	Weak transcription	Fetal Intestine Small	intestine
43	chr22:30580200-30580600	Weak transcription	Gastric	stomach
44	chr22:30580200-30581400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr22:30580200-30581400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr22:30580200-30581400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr22:30580200-30581400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr22:30580200-30582200	Weak transcription	Fetal Lung	lung
49	chr22:30580200-30582200	Weak transcription	HepG2	liver
50	chr22:30580200-30582400	Weak transcription	Monocytes-CD14+_RO01746	blood

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