Variant report

Variant	rs140131
Chromosome Location	chr22:30151716-30151717
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs105311	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs131259	0.82[AMR][1000 genomes]
rs131260	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs131261	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs131263	0.92[ASN][1000 genomes]
rs131264	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs131265	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs131266	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs131267	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131268	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131270	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs131271	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs131272	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs131273	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs131274	0.99[ASN][1000 genomes]
rs131275	0.84[ASN][1000 genomes]
rs131277	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs131279	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs131281	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs131282	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs131284	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs131285	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs131286	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs131287	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs131301	0.89[EUR][1000 genomes]
rs140094	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs140095	0.90[ASN][1000 genomes]
rs140096	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs140097	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs140099	0.85[ASN][1000 genomes]
rs140100	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs140101	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs140102	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs140103	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs140104	0.88[ASN][1000 genomes]
rs140106	0.88[ASN][1000 genomes]
rs140107	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs140110	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs140111	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs140113	0.88[ASN][1000 genomes]
rs140114	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs140117	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs140118	0.84[ASN][1000 genomes]
rs140119	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs140120	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs140121	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs140122	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs140123	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs140124	0.94[ASN][1000 genomes]
rs140126	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs140127	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs140128	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs140129	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs140133	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs249398	0.88[EUR][1000 genomes]
rs36574	0.86[EUR][1000 genomes]
rs36576	0.88[EUR][1000 genomes]
rs5752961	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs81800	0.88[EUR][1000 genomes]
rs9614055	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv515720	chr22:30081715-30163526	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1065072	chr22:30102176-30155245	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30131600-30162000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:30134400-30158400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr22:30136000-30154800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr22:30141600-30154200	Weak transcription	Osteobl	bone
5	chr22:30141800-30155400	Strong transcription	Fetal Stomach	stomach
6	chr22:30143600-30154200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr22:30144400-30161800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr22:30144400-30162000	Weak transcription	Placenta	Placenta
9	chr22:30144400-30162200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr22:30144600-30160000	Weak transcription	Dnd41	blood
11	chr22:30144600-30161800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr22:30144600-30161800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr22:30144600-30161800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr22:30144600-30162000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr22:30144800-30155000	Weak transcription	Ovary	ovary
16	chr22:30144800-30161800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr22:30144800-30161800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr22:30144800-30161800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr22:30145200-30154000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr22:30145400-30154200	Weak transcription	NHDF-Ad	bronchial
21	chr22:30146000-30161800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr22:30146400-30155000	Weak transcription	Brain Substantia Nigra	brain
23	chr22:30146600-30154800	Weak transcription	Left Ventricle	heart
24	chr22:30146600-30161800	Weak transcription	Brain Germinal Matrix	brain
25	chr22:30146800-30151800	Weak transcription	Esophagus	oesophagus
26	chr22:30146800-30151800	Weak transcription	NHLF	lung
27	chr22:30146800-30153400	Weak transcription	Aorta	Aorta
28	chr22:30146800-30154800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr22:30146800-30161800	Weak transcription	Brain Anterior Caudate	brain
30	chr22:30146800-30161800	Weak transcription	Right Ventricle	heart
31	chr22:30147000-30162000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr22:30147000-30162200	Weak transcription	Gastric	stomach
33	chr22:30147400-30152200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr22:30147400-30154000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr22:30147400-30160200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr22:30147400-30160200	Weak transcription	HepG2	liver
37	chr22:30147400-30161800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr22:30147600-30161800	Weak transcription	Primary B cells from cord blood	blood
39	chr22:30147600-30161800	Weak transcription	NHEK	skin
40	chr22:30147600-30162200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr22:30147800-30153600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr22:30147800-30160200	Weak transcription	Fetal Thymus	thymus
43	chr22:30147800-30160800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr22:30147800-30161800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr22:30148200-30160000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr22:30148200-30161600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr22:30148200-30162000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr22:30148400-30161800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr22:30149000-30161600	Weak transcription	Pancreas	Pancrea
50	chr22:30149200-30161800	Weak transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links