Variant report

Variant	rs12580460
Chromosome Location	chr12:46648983-46648984
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1000405	0.89[EUR][1000 genomes]
rs10880944	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11504510	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299843	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12303214	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1492893	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1492897	0.90[EUR][1000 genomes]
rs2408495	0.86[EUR][1000 genomes]
rs3847985	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4445700	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4768109	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4768692	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768693	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56988021	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7312682	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957777	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7959095	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7960819	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7967629	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7971312	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs973988	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][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	chr12:46633600-46653800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:46635200-46653600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr12:46635600-46654000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:46635600-46660000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr12:46635800-46653800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr12:46638200-46649200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr12:46640200-46650400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:46640200-46651200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:46640400-46653600	Weak transcription	Psoas Muscle	Psoas
22	chr12:46640400-46660600	Weak transcription	Aorta	Aorta
23	chr12:46640600-46649600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:46640600-46650200	Weak transcription	Thymus	Thymus
25	chr12:46640600-46650800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr12:46640600-46651400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr12:46640800-46649600	Weak transcription	Left Ventricle	heart
28	chr12:46641000-46650200	Weak transcription	Fetal Intestine Small	intestine
29	chr12:46643800-46649000	Strong transcription	Fetal Thymus	thymus
30	chr12:46644400-46650600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:46645000-46652000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:46645200-46659600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:46645400-46649200	Strong transcription	Primary B cells from peripheral blood	blood
34	chr12:46645400-46649400	Strong transcription	Primary B cells from cord blood	blood
35	chr12:46645400-46649400	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr12:46645400-46650400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:46645600-46649600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
38	chr12:46645600-46651200	Weak transcription	Fetal Muscle Leg	muscle
39	chr12:46645800-46649600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:46645800-46650000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:46645800-46650200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:46646000-46649600	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:46646000-46649600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr12:46646000-46651200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:46646200-46649000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:46646200-46653200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:46646200-46653800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr12:46646400-46649200	Strong transcription	K562	blood
49	chr12:46646400-46649400	Strong transcription	Hela-S3	cervix
50	chr12:46646400-46650400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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