Variant report

Variant	rs58398438
Chromosome Location	chr12:67714808-67714809
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:67712989..67715089-chr12:67716509..67719238,2	K562	blood:
2	chr12:67713525..67718128-chr12:67719850..67722693,5	MCF-7	breast:
3	chr12:67707980..67709583-chr12:67712739..67715234,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1680	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28785562	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55718199	0.94[EUR][1000 genomes]
rs56009409	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56044711	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56256810	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56956717	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57682356	0.88[EUR][1000 genomes]
rs58181317	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58559744	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58577936	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58982313	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59402354	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs59826349	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs59842954	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61237339	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61371870	0.88[EUR][1000 genomes]
rs61539332	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6581748	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7134160	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7300154	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7301023	0.94[EUR][1000 genomes]
rs7308079	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7308322	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7313387	0.88[EUR][1000 genomes]
rs73318892	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73320730	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73320788	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73324517	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73324577	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs74098702	0.94[EUR][1000 genomes]
rs74100307	0.82[EUR][1000 genomes]
rs74100308	0.94[EUR][1000 genomes]
rs74100320	0.94[EUR][1000 genomes]
rs74100321	0.94[EUR][1000 genomes]
rs74100325	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs74100337	0.94[EUR][1000 genomes]
rs7953592	0.88[EUR][1000 genomes]
rs7960660	0.88[EUR][1000 genomes]
rs7968351	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7974384	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7977176	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[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	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv756	chr12:67703587-67744743	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67682200-67715200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:67686000-67717000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:67686200-67716200	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:67686400-67716000	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:67687800-67715400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr12:67688200-67717000	Strong transcription	NH-A	brain
7	chr12:67688400-67716000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:67691000-67716000	Weak transcription	Fetal Intestine Small	intestine
9	chr12:67700000-67715400	Weak transcription	Lung	lung
10	chr12:67700000-67716200	Weak transcription	Fetal Stomach	stomach
11	chr12:67700200-67717600	Weak transcription	Gastric	stomach
12	chr12:67700600-67716000	Weak transcription	Aorta	Aorta
13	chr12:67700600-67717400	Weak transcription	Psoas Muscle	Psoas
14	chr12:67706200-67716400	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:67706600-67716200	Weak transcription	Fetal Heart	heart
16	chr12:67706600-67720600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:67706800-67716600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:67708200-67715000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr12:67708600-67716400	Weak transcription	NHDF-Ad	bronchial
20	chr12:67708800-67715000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr12:67708800-67717200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr12:67708800-67717800	Weak transcription	Brain Anterior Caudate	brain
23	chr12:67709000-67715800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr12:67709800-67716600	Strong transcription	HSMM	muscle
25	chr12:67709800-67716800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:67710000-67716200	Strong transcription	Osteobl	bone
27	chr12:67710000-67717400	Strong transcription	A549	lung
28	chr12:67710200-67715800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:67710200-67716400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:67710400-67715000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:67710400-67715200	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr12:67710400-67716800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:67710400-67717000	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr12:67710600-67716400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:67710600-67717000	Strong transcription	Thymus	Thymus
36	chr12:67710800-67717200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:67711000-67717600	Weak transcription	HUVEC	blood vessel
38	chr12:67711200-67715800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr12:67711200-67715800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr12:67711200-67716000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:67711200-67717400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:67711200-67721400	Weak transcription	Fetal Brain Female	brain
43	chr12:67711400-67715000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr12:67712000-67717200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:67712200-67716000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:67712400-67716200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:67712400-67716200	Strong transcription	Liver	Liver
48	chr12:67712600-67715200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:67712800-67716000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:67712800-67718000	Weak transcription	Duodenum Mucosa	Duodenum

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