Variant report

Variant	rs12043837
Chromosome Location	chr1:225847029-225847030
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225845487..225847211-chr1:225869502..225871326,2	MCF-7	breast:
2	chr1:225844790..225847671-chr1:226111498..226113451,2	MCF-7	breast:
3	chr1:225840113..225842688-chr1:225846092..225848913,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143811	Chromatin interaction
ENSG00000154380	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12033453	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12038365	0.88[AMR][1000 genomes]
rs12038461	0.85[ASN][1000 genomes]
rs12038893	1.00[CHB][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12039453	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs16845153	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs1870834	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56793390	0.81[ASN][1000 genomes]
rs74147627	0.84[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	nsv832725	chr1:225726998-225910121	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832736	chr1:225815717-225968619	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225842000-225865000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:225842200-225847200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr1:225843000-225852400	Weak transcription	Psoas Muscle	Psoas
4	chr1:225843600-225848000	Weak transcription	Brain Substantia Nigra	brain
5	chr1:225843800-225848000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:225844000-225854000	Weak transcription	Fetal Lung	lung
7	chr1:225845400-225848000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:225845600-225847800	Weak transcription	Adipose Nuclei	Adipose
9	chr1:225845600-225848200	Weak transcription	Fetal Stomach	stomach
10	chr1:225845600-225850200	Weak transcription	Lung	lung
11	chr1:225845600-225852200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:225845600-225858400	Weak transcription	Right Atrium	heart
13	chr1:225845800-225848200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:225845800-225848400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:225845800-225849400	Weak transcription	Fetal Heart	heart
16	chr1:225846000-225848200	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:225846000-225848200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:225846000-225858000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:225846200-225847800	Weak transcription	HUVEC	blood vessel
20	chr1:225846200-225848200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:225846200-225848200	Weak transcription	A549	lung
22	chr1:225846200-225849400	Weak transcription	NH-A	brain
23	chr1:225846400-225850200	Weak transcription	Aorta	Aorta
24	chr1:225846600-225847800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:225846800-225848200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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