Variant report

Variant	rs5763681
Chromosome Location	chr22:30389846-30389847
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30231401..30237558-chr22:30387473..30391733,6	MCF-7	breast:
2	chr22:30162215..30164078-chr22:30387745..30390340,2	MCF-7	breast:
3	chr22:30388182..30392809-chr22:30393222..30398050,6	K562	blood:
4	chr22:30388710..30391580-chr22:30397983..30401344,3	MCF-7	breast:
5	chr22:30194855..30195787-chr22:30389744..30390544,2	MCF-7	breast:
6	chr22:30388182..30391432-chr22:30393585..30396816,3	K562	blood:
7	chr22:30167923..30168835-chr22:30389466..30390580,4	MCF-7	breast:
8	chr22:30194011..30196318-chr22:30389051..30390568,2	MCF-7	breast:
9	chr22:30387371..30390104-chr22:30390840..30392967,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100319	Chromatin interaction
ENSG00000100330	Chromatin interaction
ENSG00000100325	Chromatin interaction
ENSG00000184076	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs1160671	0.89[EUR][1000 genomes]
rs12233358	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12484010	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12484420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12484547	0.89[EUR][1000 genomes]
rs12484983	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13053389	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13053765	0.89[EUR][1000 genomes]
rs13055998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13056990	0.89[EUR][1000 genomes]
rs13057204	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13057580	0.89[EUR][1000 genomes]
rs13057878	0.84[AFR][1000 genomes]
rs13058224	0.81[AMR][1000 genomes]
rs13058334	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1476514	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16988123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16988129	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs16988145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2010916	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2012308	0.89[EUR][1000 genomes]
rs2412961	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs34955393	1.00[EUR][1000 genomes]
rs35067150	0.89[EUR][1000 genomes]
rs35361418	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35710453	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36018230	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3788422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820829	0.89[EUR][1000 genomes]
rs4823054	0.82[GIH][hapmap]
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[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4823067	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4823071	0.89[EUR][1000 genomes]
rs55686007	0.85[AMR][1000 genomes]
rs5752969	1.00[EUR][1000 genomes]
rs5752976	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5752997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753002	1.00[CEU][hapmap];0.84[CHB][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5753007	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5753013	0.89[EUR][1000 genomes]
rs5753014	1.00[CEU][hapmap];0.84[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs5753015	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5753019	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5753020	0.89[EUR][1000 genomes]
rs5753022	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5753027	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	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5763569	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5763575	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs5763585	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5763601	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763602	0.89[AFR][1000 genomes];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	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763609	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763629	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763662	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763701	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763734	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5763742	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5763746	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5763748	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5763750	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5763758	0.87[AMR][1000 genomes]
rs5763759	0.82[AMR][1000 genomes];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	0.83[AMR][1000 genomes];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]
rs5763872	1.00[CEU][hapmap]
rs5997542	1.00[EUR][1000 genomes]
rs6006278	1.00[EUR][1000 genomes]
rs6519799	0.86[AFR][1000 genomes]
rs71331220	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718773	0.84[CHB][hapmap]
rs7286304	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7286681	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7292355	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs739616	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs757026	1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs766011	0.89[EUR][1000 genomes]
rs8138404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs916807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs975704	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.91[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][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
rs5763681	LGALS8	trans	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30350600-30402600	Weak transcription	Aorta	Aorta
2	chr22:30354600-30390200	Weak transcription	Colonic Mucosa	Colon
3	chr22:30354800-30390400	Weak transcription	Small Intestine	intestine
4	chr22:30363400-30427800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr22:30366600-30390800	Weak transcription	Gastric	stomach
6	chr22:30367000-30426600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr22:30367400-30397800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr22:30370000-30391000	Weak transcription	Fetal Heart	heart
9	chr22:30370600-30390800	Weak transcription	Right Ventricle	heart
10	chr22:30370800-30390000	Weak transcription	Stomach Mucosa	stomach
11	chr22:30373800-30391400	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr22:30375200-30403200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr22:30375400-30390800	Weak transcription	Pancreas	Pancrea
14	chr22:30376200-30394800	Weak transcription	GM12878-XiMat	blood
15	chr22:30377600-30402800	Weak transcription	Fetal Brain Male	brain
16	chr22:30378200-30398800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr22:30378400-30391400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr22:30379200-30391200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr22:30379800-30390800	Weak transcription	Esophagus	oesophagus
20	chr22:30380800-30391800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr22:30381000-30397600	Weak transcription	Fetal Kidney	kidney
22	chr22:30382000-30390600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr22:30382600-30392000	Strong transcription	Primary T cells from cord blood	blood
24	chr22:30383200-30390400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr22:30383800-30391600	Strong transcription	Primary B cells from cord blood	blood
26	chr22:30384200-30391000	Weak transcription	Brain Substantia Nigra	brain
27	chr22:30384200-30398400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr22:30384200-30403800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr22:30384400-30393400	Weak transcription	Brain Hippocampus Middle	brain
30	chr22:30384400-30404000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr22:30384800-30390800	Strong transcription	Primary hematopoietic stem cells	blood
32	chr22:30385000-30390200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr22:30385000-30390600	Strong transcription	Placenta	Placenta
34	chr22:30385000-30404000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr22:30385600-30390000	Strong transcription	Dnd41	blood
36	chr22:30386200-30402600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr22:30386600-30390800	Strong transcription	Adipose Nuclei	Adipose
38	chr22:30386600-30391200	Strong transcription	Fetal Muscle Trunk	muscle
39	chr22:30386800-30390200	Weak transcription	Fetal Intestine Small	intestine
40	chr22:30386800-30390600	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr22:30386800-30391000	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr22:30387000-30390400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr22:30387200-30390800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr22:30387400-30390200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr22:30387400-30390200	Strong transcription	Fetal Brain Female	brain
46	chr22:30387400-30390400	Strong transcription	Stomach Smooth Muscle	stomach
47	chr22:30387400-30390800	Strong transcription	Fetal Muscle Leg	muscle
48	chr22:30387400-30391000	Strong transcription	Fetal Thymus	thymus
49	chr22:30387600-30391400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr22:30388000-30390000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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