Variant report

Variant	rs13315100
Chromosome Location	chr3:112953411-112953412
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11717082	1.00[EUR][1000 genomes]
rs11916824	1.00[EUR][1000 genomes]
rs13316462	1.00[EUR][1000 genomes]
rs1381062	1.00[EUR][1000 genomes]
rs1486896	1.00[EUR][1000 genomes]
rs1563932	1.00[EUR][1000 genomes]
rs1797613	1.00[EUR][1000 genomes]
rs1797618	1.00[EUR][1000 genomes]
rs2045689	1.00[EUR][1000 genomes]
rs2613918	1.00[EUR][1000 genomes]
rs2613924	1.00[EUR][1000 genomes]
rs2613930	1.00[EUR][1000 genomes]
rs2613953	1.00[EUR][1000 genomes]
rs2613955	1.00[EUR][1000 genomes]
rs2613965	1.00[EUR][1000 genomes]
rs2613966	1.00[EUR][1000 genomes]
rs2613969	1.00[EUR][1000 genomes]
rs2650095	1.00[EUR][1000 genomes]
rs2700195	1.00[EUR][1000 genomes]
rs2700197	1.00[EUR][1000 genomes]
rs2700211	1.00[EUR][1000 genomes]
rs2700213	1.00[EUR][1000 genomes]
rs2700228	1.00[EUR][1000 genomes]
rs2926810	1.00[EUR][1000 genomes]
rs2951457	1.00[EUR][1000 genomes]
rs3856722	1.00[EUR][1000 genomes]
rs4682135	1.00[EUR][1000 genomes]
rs57228683	1.00[EUR][1000 genomes]
rs57766030	1.00[EUR][1000 genomes]
rs57995695	1.00[EUR][1000 genomes]
rs58100446	1.00[EUR][1000 genomes]
rs58310808	1.00[EUR][1000 genomes]
rs59069330	1.00[EUR][1000 genomes]
rs59171219	1.00[EUR][1000 genomes]
rs59534035	1.00[EUR][1000 genomes]
rs59923952	1.00[EUR][1000 genomes]
rs6438141	1.00[EUR][1000 genomes]
rs6798990	1.00[EUR][1000 genomes]
rs712528	1.00[EUR][1000 genomes]
rs7615891	1.00[EUR][1000 genomes]
rs7623507	1.00[EUR][1000 genomes]
rs7629976	1.00[EUR][1000 genomes]
rs799828	1.00[EUR][1000 genomes]
rs9826018	1.00[EUR][1000 genomes]
rs9864636	1.00[EUR][1000 genomes]
rs9873004	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv829677	chr3:112857075-113038987	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1003511	chr3:112858775-112989045	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv877348	chr3:112914756-113012509	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112932000-112972800	Weak transcription	Aorta	Aorta
2	chr3:112937000-112954800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
3	chr3:112943600-112960600	Weak transcription	Fetal Thymus	thymus
4	chr3:112947000-112955600	Weak transcription	Fetal Intestine Small	intestine
5	chr3:112949200-112953600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:112949800-112954200	Enhancers	HMEC	breast
7	chr3:112949800-112954600	Enhancers	NHEK	skin
8	chr3:112950000-112953800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:112950000-112953800	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr3:112950200-112954200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr3:112950200-112954400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:112950400-112953800	Genic enhancers	Fetal Stomach	stomach
13	chr3:112950400-112954000	Genic enhancers	Fetal Muscle Leg	muscle
14	chr3:112950400-112954400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:112950600-112953800	Genic enhancers	Fetal Muscle Trunk	muscle
16	chr3:112950600-112954000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:112951000-112954200	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:112951000-112954400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:112951000-112958800	Weak transcription	Fetal Kidney	kidney
20	chr3:112951200-112954600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:112951200-112958800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr3:112951200-112959000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr3:112951200-112967000	Weak transcription	Colonic Mucosa	Colon
24	chr3:112951600-112953800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr3:112951600-112960200	Weak transcription	NHLF	lung
26	chr3:112951800-112954600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:112952000-112954600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:112952200-112954000	Enhancers	Brain Anterior Caudate	brain
29	chr3:112952200-112954200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr3:112952200-112954800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr3:112952400-112954600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr3:112952400-112959000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr3:112952800-112954000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:112952800-112954200	Enhancers	Brain Angular Gyrus	brain
35	chr3:112952800-112954200	Enhancers	Brain Substantia Nigra	brain
36	chr3:112953000-112953600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr3:112953000-112954000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:112953000-112954200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr3:112953000-112959800	Weak transcription	Fetal Brain Female	brain
40	chr3:112953200-112953600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr3:112953200-112953800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr3:112953200-112953800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr3:112953200-112953800	Enhancers	Esophagus	oesophagus
44	chr3:112953200-112953800	Enhancers	Lung	lung
45	chr3:112953200-112953800	Enhancers	Right Atrium	heart
46	chr3:112953200-112953800	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr3:112953200-112954000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr3:112953200-112954200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr3:112953200-112954400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:112953200-112954400	Enhancers	Fetal Lung	lung

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