Variant report

Variant	rs12465097
Chromosome Location	chr2:37309385-37309386
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37192443..37195662-chr2:37309226..37313144,4	K562	blood:
2	chr2:37306796..37309782-chr2:37312097..37314349,2	K562	blood:

Variant related genes	Relation type
ENSG00000115808	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10084315	0.84[EUR][1000 genomes]
rs10176233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10176303	0.97[AFR][1000 genomes]
rs10188586	0.97[AFR][1000 genomes]
rs10202693	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10211667	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12466249	0.84[EUR][1000 genomes]
rs12469391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12470942	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12474977	0.95[EUR][1000 genomes]
rs13398178	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13399537	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13424255	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13425123	1.00[EUR][1000 genomes]
rs13426400	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2307469	0.95[EUR][1000 genomes]
rs4648228	0.84[EUR][1000 genomes]
rs4648233	0.89[EUR][1000 genomes]
rs6718647	0.97[AFR][1000 genomes]
rs6732075	0.97[AFR][1000 genomes]
rs9631047	0.84[AMR][1000 genomes];1.00[EUR][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	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37253800-37310200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:37272600-37309800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:37274400-37309600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:37278600-37310800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:37287600-37309600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:37289000-37309400	Strong transcription	Fetal Thymus	thymus
7	chr2:37292200-37310200	Weak transcription	Colonic Mucosa	Colon
8	chr2:37292200-37310800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:37293000-37309800	Weak transcription	Spleen	Spleen
10	chr2:37293400-37310400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:37293400-37310400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr2:37296200-37309600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:37297400-37310800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:37297600-37310400	Weak transcription	Pancreas	Pancrea
15	chr2:37297600-37310800	Weak transcription	Lung	lung
16	chr2:37299600-37309600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:37302200-37310000	Weak transcription	Hela-S3	cervix
18	chr2:37302200-37310000	Strong transcription	Osteobl	bone
19	chr2:37302600-37310800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:37302800-37310400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:37302800-37310400	Weak transcription	Fetal Kidney	kidney
22	chr2:37303600-37309600	Weak transcription	NHEK	skin
23	chr2:37303600-37309800	Weak transcription	NHLF	lung
24	chr2:37303600-37310400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:37303800-37310400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:37304000-37309600	Weak transcription	Ovary	ovary
27	chr2:37304400-37310200	Weak transcription	NHDF-Ad	bronchial
28	chr2:37304800-37310600	Weak transcription	Aorta	Aorta
29	chr2:37304800-37310600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr2:37305000-37310400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr2:37305200-37310200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:37305400-37309400	Weak transcription	Esophagus	oesophagus
33	chr2:37305400-37310200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:37305600-37310800	Weak transcription	Left Ventricle	heart
35	chr2:37305800-37310400	Genic enhancers	Primary B cells from peripheral blood	blood
36	chr2:37306000-37309400	Weak transcription	Psoas Muscle	Psoas
37	chr2:37306000-37309600	Weak transcription	Brain Substantia Nigra	brain
38	chr2:37306000-37310000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:37306200-37309600	Weak transcription	Brain Germinal Matrix	brain
40	chr2:37306200-37310200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:37306400-37309600	Weak transcription	Placenta	Placenta
42	chr2:37306400-37310200	Weak transcription	A549	lung
43	chr2:37306400-37310400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:37306400-37310600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:37306400-37310600	Weak transcription	HSMM	muscle
46	chr2:37306800-37310200	Enhancers	Primary hematopoietic stem cells	blood
47	chr2:37306800-37310600	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr2:37307000-37309400	Genic enhancers	Dnd41	blood
49	chr2:37307000-37309600	Genic enhancers	Brain Hippocampus Middle	brain
50	chr2:37307000-37309800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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