Variant report

Variant	rs9370251
Chromosome Location	chr6:53847672-53847673
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	chr6:53847388..53848999-chr6:53852029..53854591,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1325825	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1570916	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs727384	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7765496	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9349689	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9367547	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9382267	0.85[AMR][1000 genomes];0.97[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	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1067663	chr6:53796341-54449718	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv529158	chr6:53796341-54449718	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2758055	chr6:53839373-53996093	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv2759431	chr6:53839373-54007349	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1018062	chr6:53842588-53925192	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs9370251	HCRTR2	cis	cerebellum	SCAN
rs9370251	PRIM2	cis	parietal	SCAN
rs9370251	LRRC1	Cis_1M	lymphoblastoid	RTeQTL
rs9370251	EFHC1	cis	cerebellum	SCAN
rs9370251	C6orf142	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53843600-53848000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:53846000-53850600	Weak transcription	Fetal Brain Male	brain
3	chr6:53846400-53852000	Enhancers	HMEC	breast
4	chr6:53846400-53852200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:53846600-53850200	Enhancers	Placenta Amnion	Placenta Amnion
6	chr6:53846600-53850600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:53847000-53848400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:53847000-53849200	Enhancers	Osteobl	bone
9	chr6:53847000-53849400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr6:53847000-53849400	Enhancers	NHEK	skin
11	chr6:53847000-53851800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:53847200-53848600	Enhancers	Psoas Muscle	Psoas
13	chr6:53847200-53849200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:53847200-53850600	Enhancers	HSMM	muscle
15	chr6:53847400-53849400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:53847400-53850400	Enhancers	NHDF-Ad	bronchial
17	chr6:53847600-53847800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:53847600-53847800	Enhancers	HSMMtube	muscle
19	chr6:53847600-53848000	Enhancers	NHLF	lung
20	chr6:53847600-53848200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr6:53847600-53852200	Enhancers	NH-A	brain

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