Variant report

Variant	rs824721
Chromosome Location	chr12:42480890-42480891
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:42480575..42482841-chr12:42486145..42488403,3	K562	blood:
2	chr12:42475577..42477136-chr12:42480069..42481617,2	K562	blood:
3	chr12:42480575..42482340-chr12:42486145..42488403,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1009721	1.00[EUR][1000 genomes]
rs11118	1.00[ASW][hapmap];0.94[LWK][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1157577	1.00[EUR][1000 genomes]
rs11829542	1.00[EUR][1000 genomes]
rs11830248	1.00[EUR][1000 genomes]
rs11836064	1.00[EUR][1000 genomes]
rs1233989	1.00[EUR][1000 genomes]
rs1233991	1.00[EUR][1000 genomes]
rs1233993	1.00[EUR][1000 genomes]
rs1234007	1.00[EUR][1000 genomes]
rs1234031	1.00[EUR][1000 genomes]
rs1234041	1.00[EUR][1000 genomes]
rs1234103	1.00[EUR][1000 genomes]
rs1238283	1.00[EUR][1000 genomes]
rs1626596	1.00[EUR][1000 genomes]
rs1628339	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1683196	0.82[YRI][hapmap]
rs1683199	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1683203	1.00[EUR][1000 genomes]
rs1688846	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1688876	1.00[EUR][1000 genomes]
rs17091023	1.00[EUR][1000 genomes]
rs1873684	1.00[EUR][1000 genomes]
rs1920698	1.00[EUR][1000 genomes]
rs2639131	1.00[EUR][1000 genomes]
rs56220552	1.00[EUR][1000 genomes]
rs57435495	1.00[EUR][1000 genomes]
rs58689889	1.00[EUR][1000 genomes]
rs59909142	1.00[EUR][1000 genomes]
rs7305651	1.00[EUR][1000 genomes]
rs73276346	1.00[EUR][1000 genomes]
rs73276375	1.00[EUR][1000 genomes]
rs73276381	1.00[EUR][1000 genomes]
rs73276390	1.00[EUR][1000 genomes]
rs73276399	1.00[EUR][1000 genomes]
rs73278206	1.00[EUR][1000 genomes]
rs73278217	1.00[EUR][1000 genomes]
rs73278222	1.00[EUR][1000 genomes]
rs73278223	1.00[EUR][1000 genomes]
rs73278224	1.00[EUR][1000 genomes]
rs73278227	1.00[EUR][1000 genomes]
rs73278230	1.00[EUR][1000 genomes]
rs73278244	1.00[EUR][1000 genomes]
rs73278291	1.00[EUR][1000 genomes]
rs73280009	1.00[EUR][1000 genomes]
rs73280011	1.00[EUR][1000 genomes]
rs73281814	1.00[EUR][1000 genomes]
rs73281820	1.00[EUR][1000 genomes]
rs73281838	1.00[EUR][1000 genomes]
rs73281851	1.00[EUR][1000 genomes]
rs73281860	1.00[EUR][1000 genomes]
rs73281880	1.00[EUR][1000 genomes]
rs73281886	1.00[EUR][1000 genomes]
rs73281894	1.00[EUR][1000 genomes]
rs73283707	1.00[EUR][1000 genomes]
rs73283734	1.00[EUR][1000 genomes]
rs73283759	1.00[EUR][1000 genomes]
rs74077430	1.00[EUR][1000 genomes]
rs7970895	1.00[EUR][1000 genomes]
rs824690	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs824696	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs824698	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs824715	1.00[EUR][1000 genomes]
rs824719	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs824720	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs824723	1.00[ASW][hapmap];0.83[LWK][hapmap];1.00[EUR][1000 genomes]
rs824725	1.00[EUR][1000 genomes]
rs824727	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs824729	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs824731	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs824732	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs824733	1.00[EUR][1000 genomes]
rs824735	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs824737	1.00[EUR][1000 genomes]
rs844045	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs850964	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs850965	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1047830	chr12:42466192-42497603	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv973056	chr12:42480091-42481599	Weak transcription Enhancers Strong transcription	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42464600-42484000	Weak transcription	HSMM	muscle
2	chr12:42468400-42490200	Weak transcription	Spleen	Spleen
3	chr12:42469400-42491800	Weak transcription	Ovary	ovary
4	chr12:42470400-42484000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:42470600-42484000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:42470600-42491400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr12:42470800-42485600	Weak transcription	Aorta	Aorta
8	chr12:42471000-42504200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:42471200-42483400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:42471400-42485600	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:42471800-42483400	Weak transcription	Fetal Stomach	stomach
12	chr12:42471800-42486600	Weak transcription	Fetal Intestine Small	intestine
13	chr12:42471800-42524400	Weak transcription	Esophagus	oesophagus
14	chr12:42472200-42487800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:42472800-42489000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:42473600-42481000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:42473600-42483600	Weak transcription	Adipose Nuclei	Adipose
18	chr12:42473600-42484000	Weak transcription	HUVEC	blood vessel
19	chr12:42473600-42484200	Weak transcription	Primary T cells from cord blood	blood
20	chr12:42473800-42484000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:42474000-42484000	Weak transcription	NH-A	brain
22	chr12:42474000-42484200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:42474000-42496000	Weak transcription	Fetal Intestine Large	intestine
24	chr12:42474200-42484000	Weak transcription	Osteobl	bone
25	chr12:42474200-42486000	Weak transcription	GM12878-XiMat	blood
26	chr12:42474200-42487800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:42474200-42490600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:42474600-42482600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:42474600-42514400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr12:42474600-42518800	Weak transcription	Brain Anterior Caudate	brain
31	chr12:42474800-42487600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr12:42474800-42487600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr12:42474800-42491800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr12:42475000-42484200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:42475000-42491800	Weak transcription	Brain Substantia Nigra	brain
36	chr12:42475400-42485600	Weak transcription	Left Ventricle	heart
37	chr12:42476000-42485600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:42476000-42524400	Weak transcription	Gastric	stomach
39	chr12:42476200-42487000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr12:42476200-42524400	Weak transcription	Pancreas	Pancrea
41	chr12:42476400-42481200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:42476400-42482800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:42476400-42487400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr12:42476400-42487600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr12:42476400-42489800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:42476600-42523800	Weak transcription	Hela-S3	cervix
47	chr12:42476800-42483400	Weak transcription	Fetal Kidney	kidney
48	chr12:42476800-42484200	Weak transcription	NHEK	skin
49	chr12:42477000-42484000	Weak transcription	NHDF-Ad	bronchial
50	chr12:42477400-42482200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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