Variant report

Variant	rs9918079
Chromosome Location	chr4:15545410-15545411
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	chr4:15544533..15546139-chr4:15654596..15656765,2	K562	blood:
2	chr4:15533209..15536881-chr4:15540380..15545720,5	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs11728037	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];0.84[JPT][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12500587	0.85[YRI][hapmap]
rs4235379	0.86[CHB][hapmap];0.81[CHD][hapmap];0.80[YRI][hapmap]
rs7696938	0.86[CHB][hapmap];0.81[CHD][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	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Obesity-related traits	23251661	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9918079	CC2D2A	cis	parietal	SCAN
rs9918079	FBXL5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15487400-15570400	Weak transcription	Psoas Muscle	Psoas
2	chr4:15495600-15559400	Weak transcription	HSMMtube	muscle
3	chr4:15502800-15549200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr4:15502800-15577600	Weak transcription	Right Ventricle	heart
5	chr4:15508200-15556400	Weak transcription	Colonic Mucosa	Colon
6	chr4:15508800-15545800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:15509200-15564400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:15509600-15553400	Weak transcription	HepG2	liver
9	chr4:15512000-15580000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:15513000-15562400	Weak transcription	Primary B cells from cord blood	blood
11	chr4:15516000-15545600	Weak transcription	Fetal Thymus	thymus
12	chr4:15517800-15551600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr4:15517800-15593600	Weak transcription	HUVEC	blood vessel
14	chr4:15520000-15572400	Weak transcription	Small Intestine	intestine
15	chr4:15520600-15553400	Weak transcription	A549	lung
16	chr4:15526000-15558200	Weak transcription	Spleen	Spleen
17	chr4:15530200-15556600	Weak transcription	HSMM	muscle
18	chr4:15530800-15554600	Weak transcription	Placenta	Placenta
19	chr4:15530800-15554600	Weak transcription	NH-A	brain
20	chr4:15531600-15548600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:15533000-15554800	Weak transcription	Fetal Brain Male	brain
22	chr4:15537200-15565000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr4:15537400-15621000	Weak transcription	Hela-S3	cervix
24	chr4:15537800-15549000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:15538000-15545800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:15538600-15546400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:15538600-15548600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr4:15539000-15570400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr4:15540000-15555600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:15540200-15547000	Weak transcription	Liver	Liver
31	chr4:15540200-15547000	Weak transcription	Gastric	stomach
32	chr4:15540200-15547400	Weak transcription	Thymus	Thymus
33	chr4:15540200-15548200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:15540200-15548800	Weak transcription	Primary T cells from cord blood	blood
35	chr4:15540200-15554400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr4:15540200-15554600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:15540200-15555400	Weak transcription	NHLF	lung
38	chr4:15540200-15556800	Weak transcription	Brain Hippocampus Middle	brain
39	chr4:15540200-15558200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr4:15540200-15558200	Weak transcription	Brain Angular Gyrus	brain
41	chr4:15540200-15558200	Weak transcription	Brain Anterior Caudate	brain
42	chr4:15540200-15559600	Weak transcription	Esophagus	oesophagus
43	chr4:15540200-15561600	Weak transcription	HMEC	breast
44	chr4:15540200-15561600	Weak transcription	NHEK	skin
45	chr4:15540200-15562600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr4:15540400-15546400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:15540400-15548000	Weak transcription	Aorta	Aorta
48	chr4:15540400-15549200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr4:15540400-15551600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr4:15540400-15554600	Weak transcription	Muscle Satellite Cultured Cells	--

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