Variant report

Variant	rs12042475
Chromosome Location	chr1:56454026-56454027
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:56453401..56456285-chr1:56458456..56460336,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10888954	0.83[ASN][1000 genomes]
rs11206706	1.00[ASN][1000 genomes]
rs11206708	1.00[ASN][1000 genomes]
rs12022559	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12023471	0.83[ASN][1000 genomes]
rs12024778	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12025328	0.83[ASN][1000 genomes]
rs12026754	0.83[ASN][1000 genomes]
rs12027471	1.00[ASN][1000 genomes]
rs12027507	1.00[ASN][1000 genomes]
rs12028993	0.83[ASN][1000 genomes]
rs12031810	0.83[ASN][1000 genomes]
rs12032566	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12033449	0.83[ASN][1000 genomes]
rs12035632	0.83[ASN][1000 genomes]
rs12037566	0.83[ASN][1000 genomes]
rs12037900	1.00[EUR][1000 genomes]
rs12039145	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12040672	1.00[ASN][1000 genomes]
rs12042311	1.00[EUR][1000 genomes]
rs12044091	0.83[ASN][1000 genomes]
rs12044310	0.92[ASN][1000 genomes]
rs12044313	0.92[ASN][1000 genomes]
rs12405362	1.00[ASN][1000 genomes]
rs12407240	0.86[ASN][1000 genomes]
rs1412211	0.83[ASN][1000 genomes]
rs1412212	0.83[ASN][1000 genomes]
rs2110030	0.83[ASN][1000 genomes]
rs72910332	0.83[ASN][1000 genomes]
rs72910349	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870513	chr1:56407227-56493106	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1003385	chr1:56430742-56468732	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56451400-56455400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:56451400-56456200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:56451400-56456200	Enhancers	Adipose Nuclei	Adipose
4	chr1:56451400-56457800	Enhancers	Fetal Lung	lung
5	chr1:56451800-56456400	Weak transcription	Placenta	Placenta
6	chr1:56452600-56454400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:56452800-56457200	Enhancers	Ovary	ovary
8	chr1:56453200-56454200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:56453200-56455400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:56453200-56455400	Enhancers	Fetal Stomach	stomach
11	chr1:56453400-56457000	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:56453600-56454800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:56453600-56455200	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:56453600-56455200	Weak transcription	Psoas Muscle	Psoas
15	chr1:56453600-56455200	Weak transcription	Right Atrium	heart
16	chr1:56453800-56454200	Enhancers	Osteobl	bone
17	chr1:56453800-56454600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:56453800-56455200	Weak transcription	NHDF-Ad	bronchial
19	chr1:56453800-56456000	Weak transcription	HSMMtube	muscle
20	chr1:56453800-56456800	Weak transcription	Aorta	Aorta
21	chr1:56454000-56454200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr1:56454000-56454600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:56454000-56455200	Weak transcription	Brain Substantia Nigra	brain
24	chr1:56454000-56455200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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