Variant report

Variant	rs73004856
Chromosome Location	chr1:152487917-152487918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11204983	1.00[EUR][1000 genomes]
rs12057680	1.00[EUR][1000 genomes]
rs12060296	1.00[EUR][1000 genomes]
rs12066296	1.00[EUR][1000 genomes]
rs12067755	1.00[EUR][1000 genomes]
rs12078392	1.00[EUR][1000 genomes]
rs12083959	1.00[EUR][1000 genomes]
rs16834174	1.00[EUR][1000 genomes]
rs1858481	1.00[EUR][1000 genomes]
rs28655434	1.00[EUR][1000 genomes]
rs3120654	1.00[EUR][1000 genomes]
rs3126087	1.00[EUR][1000 genomes]
rs3126093	1.00[EUR][1000 genomes]
rs3134871	1.00[EUR][1000 genomes]
rs566973	1.00[EUR][1000 genomes]
rs58935238	1.00[EUR][1000 genomes]
rs60095860	1.00[EUR][1000 genomes]
rs60179982	1.00[EUR][1000 genomes]
rs60963018	1.00[EUR][1000 genomes]
rs61230786	1.00[EUR][1000 genomes]
rs73003080	1.00[EUR][1000 genomes]
rs73003789	1.00[EUR][1000 genomes]
rs73004841	1.00[EUR][1000 genomes]
rs73004845	1.00[EUR][1000 genomes]
rs73004848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73004882	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73004888	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73006958	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73006962	1.00[EUR][1000 genomes]
rs733439	1.00[EUR][1000 genomes]
rs74127917	1.00[EUR][1000 genomes]
rs74127918	1.00[EUR][1000 genomes]
rs74128280	1.00[EUR][1000 genomes]
rs74129458	1.00[EUR][1000 genomes]
rs74129459	1.00[EUR][1000 genomes]
rs74129463	1.00[EUR][1000 genomes]
rs74129464	1.00[EUR][1000 genomes]
rs74129466	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916016	chr1:152337775-152590520	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1014393	chr1:152451935-152491693	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv2750810	chr1:152453669-152660927	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1012908	chr1:152464844-152517845	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1005553	chr1:152464844-152519197	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1013357	chr1:152469744-152519184	Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv1798404	chr1:152472839-152587113	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv1827111	chr1:152472839-152690073	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	esv1830764	chr1:152472839-152690073	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	esv2757755	chr1:152472839-152898153	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
11	esv2758970	chr1:152472839-152898153	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	nsv524241	chr1:152484129-152488428	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
13	esv3370335	chr1:152487858-152488250	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Obesity-related traits	23251661	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152487000-152488000	Enhancers	A549	lung
2	chr1:152487200-152488000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
3	chr1:152487200-152489600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:152487400-152488400	Active TSS	Esophagus	oesophagus
5	chr1:152487400-152488600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr1:152487600-152488000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
7	chr1:152487600-152488000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:152487600-152488000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
9	chr1:152487600-152488000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr1:152487600-152488000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
11	chr1:152487600-152488000	Bivalent Enhancer	Left Ventricle	heart
12	chr1:152487600-152488000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
13	chr1:152487600-152488200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
14	chr1:152487600-152488200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
15	chr1:152487600-152488200	Bivalent Enhancer	Fetal Stomach	stomach
16	chr1:152487600-152488200	Enhancers	Pancreas	Pancrea
17	chr1:152487600-152488200	Flanking Active TSS	HMEC	breast
18	chr1:152487600-152488400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:152487600-152488400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:152487600-152488400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:152487600-152488400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
22	chr1:152487600-152488400	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr1:152487600-152488400	Bivalent/Poised TSS	Right Atrium	heart
24	chr1:152487600-152488400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
25	chr1:152487600-152488600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr1:152487600-152488600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
27	chr1:152487600-152488800	Bivalent Enhancer	Liver	Liver
28	chr1:152487800-152488000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
29	chr1:152487800-152488000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
30	chr1:152487800-152488000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:152487800-152488000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
32	chr1:152487800-152488000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
33	chr1:152487800-152488000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
34	chr1:152487800-152488200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:152487800-152488200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
36	chr1:152487800-152488200	Bivalent Enhancer	Lung	lung
37	chr1:152487800-152488200	Flanking Active TSS	Ovary	ovary
38	chr1:152487800-152488200	Bivalent/Poised TSS	Psoas Muscle	Psoas
39	chr1:152487800-152488200	Active TSS	Rectal Smooth Muscle	rectum
40	chr1:152487800-152488200	Flanking Bivalent TSS/Enh	Right Ventricle	heart
41	chr1:152487800-152488200	Active TSS	NHEK	skin
42	chr1:152487800-152488400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:152487800-152488400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:152487800-152488400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
45	chr1:152487800-152488400	Bivalent/Poised TSS	Colonic Mucosa	Colon
46	chr1:152487800-152488400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
47	chr1:152487800-152488400	Bivalent Enhancer	Fetal Brain Male	brain
48	chr1:152487800-152488400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr1:152487800-152488400	Active TSS	HSMM	muscle
50	chr1:152487800-152488400	Active TSS	HSMMtube	muscle

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