Variant report

Variant	rs5763601
Chromosome Location	chr22:30310294-30310295
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30303040..30305497-chr22:30307951..30311073,3	MCF-7	breast:
2	chr22:30308576..30310461-chr22:30376998..30379736,2	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs12233358	0.89[EUR][1000 genomes]
rs12484010	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12484420	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12484547	0.89[EUR][1000 genomes]
rs12484983	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13053389	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13053765	0.89[EUR][1000 genomes]
rs13055998	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13056990	0.89[EUR][1000 genomes]
rs13057204	0.89[EUR][1000 genomes]
rs13057580	0.89[EUR][1000 genomes]
rs13058224	0.81[AMR][1000 genomes]
rs13058334	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1476514	0.89[EUR][1000 genomes]
rs16988123	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16988145	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2010916	0.85[EUR][1000 genomes]
rs2012308	0.89[EUR][1000 genomes]
rs34955393	1.00[EUR][1000 genomes]
rs35067150	0.89[EUR][1000 genomes]
rs35361418	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35710453	0.89[EUR][1000 genomes]
rs36018230	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3788422	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4343558	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4820821	1.00[EUR][1000 genomes]
rs4820825	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820829	0.89[EUR][1000 genomes]
rs4823056	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4823057	1.00[EUR][1000 genomes]
rs4823058	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4823064	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4823067	0.89[EUR][1000 genomes]
rs4823071	0.89[EUR][1000 genomes]
rs55686007	0.85[AMR][1000 genomes]
rs5752969	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5752976	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5752997	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753002	0.89[EUR][1000 genomes]
rs5753007	0.89[EUR][1000 genomes]
rs5753013	0.89[EUR][1000 genomes]
rs5753014	0.89[EUR][1000 genomes]
rs5753015	0.89[EUR][1000 genomes]
rs5753019	0.89[EUR][1000 genomes]
rs5753020	0.89[EUR][1000 genomes]
rs5753022	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs5763543	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5763544	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5763552	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5763553	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5763556	1.00[EUR][1000 genomes]
rs5763557	1.00[EUR][1000 genomes]
rs5763561	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5763566	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5763569	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5763575	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs5763585	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5763602	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763604	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763606	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763609	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763637	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763648	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763662	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763681	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763687	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763695	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763701	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763734	0.89[EUR][1000 genomes]
rs5763742	0.89[EUR][1000 genomes]
rs5763746	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5763748	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5763750	0.89[EUR][1000 genomes]
rs5763758	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs5763759	0.89[EUR][1000 genomes]
rs5763763	0.89[EUR][1000 genomes]
rs5763766	0.89[EUR][1000 genomes]
rs5763769	0.89[EUR][1000 genomes]
rs5763774	0.89[EUR][1000 genomes]
rs5763782	0.89[EUR][1000 genomes]
rs5763788	0.89[EUR][1000 genomes]
rs5763801	0.89[EUR][1000 genomes]
rs5763805	0.89[EUR][1000 genomes]
rs5763810	0.89[EUR][1000 genomes]
rs5997542	1.00[EUR][1000 genomes]
rs6006278	1.00[EUR][1000 genomes]
rs71331220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7286304	0.89[EUR][1000 genomes]
rs7286681	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7292355	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs739616	0.89[EUR][1000 genomes]
rs757026	0.89[EUR][1000 genomes]
rs766011	0.89[EUR][1000 genomes]
rs8138404	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142101	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs916807	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5763601	LGALS8	trans	lymphoblastoid	RTeQTL

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30281400-30312200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr22:30287000-30319600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr22:30290400-30312000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr22:30298000-30314600	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr22:30304200-30312800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr22:30304400-30310800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr22:30304400-30312000	Weak transcription	Fetal Kidney	kidney
8	chr22:30304400-30312400	Weak transcription	Brain Hippocampus Middle	brain
9	chr22:30304400-30321000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr22:30304600-30312200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr22:30304800-30312400	Weak transcription	Brain Substantia Nigra	brain
12	chr22:30305200-30310400	Weak transcription	Primary B cells from cord blood	blood
13	chr22:30305200-30310600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr22:30305400-30310400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr22:30305600-30327400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr22:30305800-30310400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr22:30306600-30312200	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr22:30307000-30314800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr22:30307400-30310400	Enhancers	Fetal Heart	heart
20	chr22:30307400-30321000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr22:30307400-30321200	Weak transcription	Esophagus	oesophagus
22	chr22:30307800-30311400	Enhancers	A549	lung
23	chr22:30307800-30314200	Enhancers	Colon Smooth Muscle	Colon
24	chr22:30308000-30310400	Enhancers	Fetal Muscle Leg	muscle
25	chr22:30308000-30311600	Enhancers	HSMMtube	muscle
26	chr22:30308000-30314400	Enhancers	NHDF-Ad	bronchial
27	chr22:30308000-30315600	Enhancers	Rectal Smooth Muscle	rectum
28	chr22:30308200-30311000	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr22:30308200-30311600	Enhancers	Osteobl	bone
30	chr22:30308200-30312200	Enhancers	NHLF	lung
31	chr22:30308200-30313400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr22:30308200-30314200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr22:30308400-30311000	Enhancers	Fetal Lung	lung
34	chr22:30308400-30311400	Enhancers	Adipose Nuclei	Adipose
35	chr22:30308400-30311600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr22:30308400-30311600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr22:30308400-30311800	Enhancers	HSMM	muscle
38	chr22:30308400-30312400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr22:30308400-30312800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr22:30308600-30310600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr22:30308600-30310800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr22:30308800-30310400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr22:30308800-30310400	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr22:30308800-30310600	Enhancers	HMEC	breast
45	chr22:30308800-30311400	Enhancers	NH-A	brain
46	chr22:30309000-30310600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr22:30309000-30310800	Weak transcription	GM12878-XiMat	blood
48	chr22:30309000-30311000	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr22:30309000-30312000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr22:30309000-30312200	Weak transcription	H9 Cell Line	embryonic stem cell

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