Variant report

Variant	rs7806630
Chromosome Location	chr7:47846841-47846842
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10254483	1.00[JPT][hapmap]
rs13438587	0.84[CEU][hapmap]
rs1466203	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1551278	0.84[CEU][hapmap]
rs17710771	1.00[JPT][hapmap]
rs4720616	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6944477	0.86[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap]
rs6960394	1.00[JPT][hapmap]
rs6968057	0.90[CEU][hapmap]
rs7781801	1.00[JPT][hapmap]
rs7786516	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7798385	1.00[JPT][hapmap]
rs7798593	1.00[JPT][hapmap]

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	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7806630	HUS1	cis	parietal	SCAN
rs7806630	PURB	cis	parietal	SCAN

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47823400-47847200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr7:47823400-47849400	Weak transcription	Psoas Muscle	Psoas
3	chr7:47823400-47852200	Weak transcription	Right Ventricle	heart
4	chr7:47827000-47851400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:47834400-47847000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:47838400-47853600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:47838800-47847800	Enhancers	HepG2	liver
8	chr7:47840800-47847400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:47842600-47852000	Weak transcription	Gastric	stomach
10	chr7:47844400-47847400	Enhancers	HUVEC	blood vessel
11	chr7:47844400-47848400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr7:47844600-47847400	Enhancers	Ovary	ovary
13	chr7:47844600-47848000	Enhancers	Spleen	Spleen
14	chr7:47845000-47848200	Enhancers	Lung	lung
15	chr7:47845200-47847800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr7:47845200-47847800	Enhancers	Pancreas	Pancrea
17	chr7:47845400-47847000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:47845400-47847400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:47845400-47847400	Enhancers	Fetal Heart	heart
20	chr7:47845600-47847400	Enhancers	Liver	Liver
21	chr7:47845600-47848200	Enhancers	Placenta	Placenta
22	chr7:47845600-47852400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:47845800-47847000	Enhancers	Colon Smooth Muscle	Colon
24	chr7:47845800-47847000	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr7:47845800-47847000	Enhancers	Fetal Stomach	stomach
26	chr7:47845800-47847200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:47845800-47847200	Enhancers	Duodenum Mucosa	Duodenum
28	chr7:47845800-47847400	Enhancers	Fetal Muscle Leg	muscle
29	chr7:47845800-47847600	Enhancers	Primary hematopoietic stem cells	blood
30	chr7:47845800-47847600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr7:47845800-47847600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr7:47845800-47847800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:47845800-47847800	Enhancers	Brain Substantia Nigra	brain
34	chr7:47845800-47848000	Enhancers	Primary B cells from cord blood	blood
35	chr7:47845800-47848000	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr7:47846000-47847400	Weak transcription	A549	lung
37	chr7:47846000-47847600	Enhancers	Brain Cingulate Gyrus	brain
38	chr7:47846000-47847600	Weak transcription	HSMMtube	muscle
39	chr7:47846200-47847000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr7:47846200-47847000	Weak transcription	Colonic Mucosa	Colon
41	chr7:47846200-47847200	Enhancers	Brain Anterior Caudate	brain
42	chr7:47846200-47848200	Enhancers	Primary B cells from peripheral blood	blood
43	chr7:47846400-47847000	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr7:47846400-47847000	Enhancers	Fetal Muscle Trunk	muscle
45	chr7:47846400-47847000	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr7:47846400-47847600	Enhancers	Brain Angular Gyrus	brain
47	chr7:47846400-47847800	Enhancers	Brain Hippocampus Middle	brain
48	chr7:47846600-47847000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr7:47846600-47847000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:47846600-47847000	Enhancers	HMEC	breast

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