Variant report

Variant	rs12542663
Chromosome Location	chr8:103037986-103037987
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103037680..103039955-chr8:103043079..103045109,2	K562	blood:
2	chr8:103032420..103035113-chr8:103035889..103038603,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104490	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1269711	0.80[EUR][1000 genomes]
rs1269712	0.81[EUR][1000 genomes]
rs56119353	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468809	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831411	chr8:102937991-103108140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv891231	chr8:103001914-103076379	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv891232	chr8:103001914-103138045	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv891233	chr8:103001914-103162638	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv891234	chr8:103020391-103113701	Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv891235	chr8:103032394-103162638	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103026400-103038800	Weak transcription	Right Ventricle	heart
2	chr8:103030600-103038600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:103030600-103045000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr8:103034400-103039000	Weak transcription	Lung	lung
5	chr8:103035600-103038800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:103036000-103041400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:103036200-103038800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:103036200-103039000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:103036200-103041400	Weak transcription	Psoas Muscle	Psoas
10	chr8:103036200-103046800	Weak transcription	Left Ventricle	heart
11	chr8:103036400-103046400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr8:103036800-103041800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:103037000-103042000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:103037000-103042400	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:103037000-103044000	Weak transcription	Fetal Muscle Leg	muscle
16	chr8:103037400-103041800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr8:103037400-103046600	Weak transcription	Fetal Stomach	stomach
18	chr8:103037600-103038800	Weak transcription	Fetal Heart	heart
19	chr8:103037600-103041800	Weak transcription	Ovary	ovary
20	chr8:103037800-103041600	Weak transcription	Aorta	Aorta

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