Variant report

Variant	rs494558
Chromosome Location	chr13:110929162-110929163
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:110928749..110930249-chr17:41398877..41400831,2	K562	blood:
2	chr13:110928749..110930249-chr17:41380459..41382286,2	K562	blood:

Variant related genes	Relation type
ENSG00000236383	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1193071	0.85[AFR][1000 genomes]
rs1532323	0.85[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs547695	0.86[AFR][1000 genomes]
rs578937	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs579019	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs648031	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs679505	0.97[LWK][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes]
rs7330914	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7987099	0.85[ASN][1000 genomes]
rs9555679	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9555680	1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9559754	0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9559755	0.86[CHB][hapmap];0.96[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9559757	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9559758	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9559759	1.00[CHB][hapmap];0.82[CHD][hapmap];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Obesity-related traits	23251661	GWAS catalog

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110915200-110936200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr13:110915600-110935800	Weak transcription	Gastric	stomach
3	chr13:110916600-110935800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr13:110917400-110939000	Weak transcription	Fetal Intestine Large	intestine
5	chr13:110918200-110935800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr13:110918800-110930000	Weak transcription	Fetal Intestine Small	intestine
7	chr13:110919600-110938600	Weak transcription	HMEC	breast
8	chr13:110919800-110929800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr13:110919800-110937600	Weak transcription	NHEK	skin
10	chr13:110920000-110929400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr13:110920200-110951200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr13:110920600-110934200	Weak transcription	Pancreas	Pancrea
13	chr13:110921200-110929800	Weak transcription	Fetal Lung	lung
14	chr13:110921400-110935800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr13:110921400-110935800	Weak transcription	Esophagus	oesophagus
16	chr13:110922200-110935800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr13:110922600-110934000	Weak transcription	HSMM	muscle
18	chr13:110922600-110934200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr13:110923400-110931200	Weak transcription	Lung	lung
20	chr13:110923800-110929600	Enhancers	Fetal Heart	heart
21	chr13:110924000-110929400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr13:110924400-110929400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr13:110925400-110949000	Weak transcription	Fetal Kidney	kidney
24	chr13:110925600-110932000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr13:110925600-110936200	Weak transcription	HSMMtube	muscle
26	chr13:110925800-110932600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr13:110925800-110934600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr13:110926200-110930000	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr13:110926200-110934200	Weak transcription	Psoas Muscle	Psoas
30	chr13:110926200-110937800	Weak transcription	HUVEC	blood vessel
31	chr13:110926600-110929200	Enhancers	Right Atrium	heart
32	chr13:110926600-110929600	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr13:110926600-110930000	Enhancers	Left Ventricle	heart
34	chr13:110926600-110932000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr13:110926600-110932600	Enhancers	Colon Smooth Muscle	Colon
36	chr13:110926600-110934800	Enhancers	Rectal Smooth Muscle	rectum
37	chr13:110926800-110930200	Enhancers	Fetal Muscle Leg	muscle
38	chr13:110926800-110930200	Enhancers	Ovary	ovary
39	chr13:110927000-110929400	Enhancers	Stomach Smooth Muscle	stomach
40	chr13:110927000-110930800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr13:110927000-110934000	Enhancers	NHDF-Ad	bronchial
42	chr13:110927400-110932000	Weak transcription	Placenta	Placenta
43	chr13:110927400-110935600	Weak transcription	Fetal Stomach	stomach
44	chr13:110927400-110939000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr13:110927800-110929800	Strong transcription	NH-A	brain
46	chr13:110928000-110932200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr13:110928200-110930200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr13:110928600-110934200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr13:110928600-110934200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr13:110928600-110935200	Enhancers	Adipose Nuclei	Adipose

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