Variant report

Variant	rs2451323
Chromosome Location	chr12:124522871-124522872
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:124522354..124525198-chr12:124549022..124551115,2	MCF-7	breast:
2	chr12:124521403..124524267-chr12:124525172..124528946,3	K562	blood:
3	chr12:124520469..124523389-chr12:124526504..124528787,2	MCF-7	breast:
4	chr12:124519084..124525003-chr12:124802273..124805989,6	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10846598	1.00[ASN][1000 genomes]
rs1631624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1686728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1686757	0.82[AMR][1000 genomes]
rs1716375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1716378	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1716385	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1716403	1.00[ASN][1000 genomes]
rs1716409	1.00[ASN][1000 genomes]
rs2451325	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2460759	0.88[AMR][1000 genomes]
rs4765041	1.00[ASN][1000 genomes]
rs55673100	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs707333	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138055	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs825454	1.00[ASN][1000 genomes]
rs825457	1.00[ASN][1000 genomes]
rs825464	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs825466	1.00[ASN][1000 genomes]
rs825479	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs825497	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861131	1.00[ASN][1000 genomes]
rs866640	0.82[EUR][1000 genomes];1.00[ASN][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	nsv899580	chr12:124499542-124565258	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv455734	chr12:124511908-124772515	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv560538	chr12:124511908-124772515	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124513600-124523400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:124515000-124526000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:124515000-124531800	Weak transcription	Fetal Intestine Small	intestine
4	chr12:124515400-124528400	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:124515400-124529600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:124519200-124525000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:124519600-124523400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:124521200-124528200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:124521600-124523600	Weak transcription	A549	lung
10	chr12:124521600-124528400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:124521600-124528400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:124521800-124523400	Weak transcription	HSMMtube	muscle
13	chr12:124521800-124523600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:124521800-124523600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr12:124521800-124523600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:124521800-124523600	Weak transcription	HMEC	breast
17	chr12:124521800-124523800	Weak transcription	Fetal Thymus	thymus
18	chr12:124521800-124528400	Weak transcription	Fetal Brain Male	brain
19	chr12:124521800-124528600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:124521800-124529400	Weak transcription	Brain Anterior Caudate	brain
21	chr12:124521800-124529400	Weak transcription	Brain Hippocampus Middle	brain
22	chr12:124522000-124523400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:124522000-124523400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:124522000-124523400	Weak transcription	HSMM	muscle
25	chr12:124522000-124523600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:124522000-124523600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:124522000-124528400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr12:124522200-124523400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:124522200-124523400	Weak transcription	NH-A	brain
30	chr12:124522200-124523400	Weak transcription	Osteobl	bone
31	chr12:124522200-124523600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:124522600-124523200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr12:124522800-124523000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:124522800-124523600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr12:124522800-124523800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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