Variant report

Variant	rs58470507
Chromosome Location	chr12:46646978-46646979
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46644671..46647196-chr12:46660863..46663479,3	MCF-7	breast:
2	chr12:46646665..46648225-chr12:46651696..46654294,2	MCF-7	breast:
3	chr12:46596914..46598959-chr12:46645342..46648225,2	K562	blood:

Variant related genes	Relation type
ENSG00000111371	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10506267	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10506268	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11831535	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3843676	0.91[AMR][1000 genomes]
rs59702903	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs60628240	0.90[AMR][1000 genomes]
rs61517444	0.91[AMR][1000 genomes]
rs74082085	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs74084031	0.91[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46592800-46654200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:46597600-46659600	Weak transcription	Colonic Mucosa	Colon
3	chr12:46615800-46653800	Weak transcription	NH-A	brain
4	chr12:46616000-46650400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:46616400-46653600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:46617000-46653000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:46618400-46653800	Weak transcription	HSMMtube	muscle
8	chr12:46622400-46649600	Weak transcription	Small Intestine	intestine
9	chr12:46622400-46650800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:46629400-46650600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:46629600-46650400	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:46632800-46650800	Weak transcription	Brain Germinal Matrix	brain
13	chr12:46633600-46647400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:46633600-46653800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:46635200-46653600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr12:46635600-46647400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:46635600-46654000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:46635600-46660000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr12:46635800-46653800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:46636000-46647400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr12:46637600-46647800	Weak transcription	HepG2	liver
22	chr12:46638200-46649200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr12:46638600-46647400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr12:46640200-46650400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr12:46640200-46651200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:46640400-46647200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:46640400-46647600	Weak transcription	Fetal Intestine Large	intestine
28	chr12:46640400-46648600	Weak transcription	Fetal Heart	heart
29	chr12:46640400-46653600	Weak transcription	Psoas Muscle	Psoas
30	chr12:46640400-46660600	Weak transcription	Aorta	Aorta
31	chr12:46640600-46647200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:46640600-46647400	Weak transcription	Placenta	Placenta
33	chr12:46640600-46649600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:46640600-46650200	Weak transcription	Thymus	Thymus
35	chr12:46640600-46650800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr12:46640600-46651400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr12:46640800-46649600	Weak transcription	Left Ventricle	heart
38	chr12:46641000-46650200	Weak transcription	Fetal Intestine Small	intestine
39	chr12:46641600-46647000	Weak transcription	Primary T cells from cord blood	blood
40	chr12:46643800-46649000	Strong transcription	Fetal Thymus	thymus
41	chr12:46644000-46648400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr12:46644400-46650600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:46644600-46647000	Weak transcription	Fetal Brain Female	brain
44	chr12:46644800-46648800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr12:46645000-46652000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr12:46645200-46659600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:46645400-46648800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:46645400-46649200	Strong transcription	Primary B cells from peripheral blood	blood
49	chr12:46645400-46649400	Strong transcription	Primary B cells from cord blood	blood
50	chr12:46645400-46649400	Strong transcription	Primary T cells fromperipheralblood	blood

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