Variant report

Variant	rs1632649
Chromosome Location	chr6:36894677-36894678
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36890243..36895519-chr6:36897368..36902270,7	K562	blood:
2	chr6:36830142..36832721-chr6:36892785..36895215,2	K562	blood:
3	chr6:36856383..36858812-chr6:36892219..36894904,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1150784	0.80[EUR][1000 genomes]
rs2116447	0.85[CHB][hapmap]
rs2293393	0.89[CHB][hapmap];0.84[EUR][1000 genomes]
rs3778017	0.85[CHB][hapmap];0.87[TSI][hapmap]
rs4594944	0.95[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs460539	0.90[CHB][hapmap]
rs4714018	0.81[CHB][hapmap]
rs6457963	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6910832	0.81[CHB][hapmap]
rs6934844	0.81[CHB][hapmap]
rs831480	0.82[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs8472	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9380616	0.81[CHB][hapmap]
rs9380618	0.85[CHB][hapmap];0.87[TSI][hapmap]
rs9470426	0.85[CHB][hapmap]

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	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1632649	LRFN2	cis	cerebellum	SCAN
rs1632649	GLP1R	cis	parietal	SCAN
rs1632649	SPDEF	cis	parietal	SCAN
rs1632649	PNPLA1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36866200-36896400	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr6:36867000-36897000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:36877800-36896000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:36879600-36895400	Strong transcription	Brain Germinal Matrix	brain
5	chr6:36880600-36900000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr6:36881000-36894800	Weak transcription	Fetal Brain Male	brain
7	chr6:36881400-36896200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:36882400-36894800	Strong transcription	Fetal Intestine Small	intestine
9	chr6:36882400-36895600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:36882400-36896800	Weak transcription	Hela-S3	cervix
11	chr6:36884000-36895400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr6:36884800-36901200	Weak transcription	HMEC	breast
13	chr6:36886800-36895400	Weak transcription	Psoas Muscle	Psoas
14	chr6:36887600-36895600	Weak transcription	Right Atrium	heart
15	chr6:36888000-36895400	Weak transcription	Colonic Mucosa	Colon
16	chr6:36888400-36895600	Weak transcription	Stomach Mucosa	stomach
17	chr6:36889400-36895000	Weak transcription	Fetal Heart	heart
18	chr6:36889400-36897400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:36891200-36894800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:36891600-36901800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:36891800-36897800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr6:36892200-36895000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr6:36892200-36900600	Weak transcription	HUVEC	blood vessel
24	chr6:36892600-36895400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:36892600-36900800	Weak transcription	NHEK	skin
26	chr6:36892800-36894800	Genic enhancers	Fetal Muscle Leg	muscle
27	chr6:36892800-36895200	Weak transcription	Aorta	Aorta
28	chr6:36892800-36895200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr6:36892800-36895400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:36892800-36895600	Weak transcription	Gastric	stomach
31	chr6:36892800-36896200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr6:36892800-36897400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:36892800-36915600	Weak transcription	Pancreas	Pancrea
34	chr6:36893000-36894800	Weak transcription	HepG2	liver
35	chr6:36893000-36895200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr6:36893000-36895200	Weak transcription	Fetal Intestine Large	intestine
37	chr6:36893000-36896200	Weak transcription	Spleen	Spleen
38	chr6:36893200-36894800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr6:36893200-36895000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr6:36893200-36896800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr6:36893200-36898000	Weak transcription	Esophagus	oesophagus
42	chr6:36893200-36900600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:36893400-36894800	Enhancers	Fetal Thymus	thymus
44	chr6:36893400-36895000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr6:36893400-36895200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr6:36893400-36897800	Weak transcription	Brain Angular Gyrus	brain
47	chr6:36893600-36895000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr6:36893600-36895400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr6:36893600-36896000	Weak transcription	Brain Hippocampus Middle	brain
50	chr6:36893600-36897600	Weak transcription	Primary monocytes fromperipheralblood	blood

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