Variant report

Variant	rs374748
Chromosome Location	chr5:127699375-127699376
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10041869	1.00[JPT][hapmap]
rs10044959	1.00[JPT][hapmap]
rs10055617	1.00[JPT][hapmap]
rs10057405	1.00[JPT][hapmap]
rs10057855	1.00[JPT][hapmap]
rs10059301	1.00[JPT][hapmap]
rs10063393	1.00[JPT][hapmap]
rs10070076	1.00[JPT][hapmap]
rs10074194	1.00[JPT][hapmap]
rs10076728	1.00[JPT][hapmap]
rs10477683	1.00[JPT][hapmap]
rs10477684	1.00[JPT][hapmap]
rs10478811	1.00[JPT][hapmap]
rs10519994	1.00[JPT][hapmap]
rs11951790	1.00[JPT][hapmap]
rs11951921	1.00[JPT][hapmap]
rs1396477	1.00[JPT][hapmap]
rs1561006	1.00[JPT][hapmap]
rs17164115	1.00[JPT][hapmap]
rs17608692	1.00[JPT][hapmap]
rs17676426	1.00[JPT][hapmap]
rs1848501	1.00[JPT][hapmap]
rs1978439	1.00[JPT][hapmap]
rs32235	0.89[EUR][1000 genomes]
rs331070	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs331095	0.82[LWK][hapmap];0.95[YRI][hapmap]
rs331097	0.80[ASW][hapmap];1.00[YRI][hapmap]
rs3792871	1.00[JPT][hapmap]
rs3792873	1.00[JPT][hapmap]
rs3816905	1.00[JPT][hapmap]
rs3909897	1.00[JPT][hapmap]
rs6873360	1.00[JPT][hapmap]
rs6883276	1.00[JPT][hapmap]
rs6893195	1.00[JPT][hapmap]
rs989548	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	nsv599697	chr5:127563563-127731210	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv830483	chr5:127595570-127705124	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv531991	chr5:127624564-127966085	Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Obesity (extreme)	19553259	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs374748	LMNB1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127672000-127746000	Weak transcription	NHDF-Ad	bronchial
2	chr5:127673800-127706400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:127675600-127742200	Weak transcription	Fetal Intestine Small	intestine
4	chr5:127677800-127711400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr5:127678600-127701000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr5:127679200-127704200	Weak transcription	Fetal Intestine Large	intestine
7	chr5:127679200-127731200	Weak transcription	Right Ventricle	heart
8	chr5:127679800-127704400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:127681400-127704400	Weak transcription	Ovary	ovary
10	chr5:127681400-127706600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr5:127681600-127704200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:127681600-127714400	Weak transcription	HUVEC	blood vessel
13	chr5:127685400-127725000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:127685600-127704200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:127685800-127702000	Weak transcription	HMEC	breast
16	chr5:127685800-127712400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:127686000-127738400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:127686000-127742000	Weak transcription	A549	lung
19	chr5:127686600-127704800	Weak transcription	NH-A	brain
20	chr5:127686800-127704400	Weak transcription	Left Ventricle	heart
21	chr5:127687600-127704400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr5:127690200-127724800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:127691000-127704200	Weak transcription	Fetal Muscle Leg	muscle
24	chr5:127691200-127703600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr5:127691200-127704200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:127693000-127702600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr5:127693000-127703800	Weak transcription	NHEK	skin
28	chr5:127693000-127704200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:127693200-127699800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr5:127693400-127699400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:127693400-127714600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr5:127695200-127737800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:127695400-127701200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:127695600-127703000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:127695800-127714000	Weak transcription	Fetal Kidney	kidney
36	chr5:127696000-127699800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr5:127696000-127716000	Strong transcription	Placenta	Placenta
38	chr5:127696200-127700400	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr5:127696400-127703800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:127696400-127715000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:127696800-127738200	Weak transcription	Fetal Lung	lung
42	chr5:127697000-127701200	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr5:127697000-127712200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr5:127697600-127703600	Weak transcription	Fetal Heart	heart
45	chr5:127697600-127703800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:127698800-127702400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:127699000-127702400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:127699000-127704400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:127699200-127702600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr5:127699200-127704200	Weak transcription	Fetal Stomach	stomach

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