Variant report

Variant	rs13378684
Chromosome Location	chr13:96669736-96669737
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10454558	0.85[EUR][1000 genomes]
rs28895285	0.93[AFR][1000 genomes]
rs35405829	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs3782991	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825423	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4406928	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs58509921	0.86[AFR][1000 genomes]
rs61152555	0.95[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs61422359	0.87[EUR][1000 genomes]
rs7318577	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7327257	0.82[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7332461	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7988464	0.85[AFR][1000 genomes]
rs7990333	0.87[EUR][1000 genomes]
rs7990743	0.87[EUR][1000 genomes]
rs9584330	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9584331	1.00[ASW][hapmap];0.85[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs9584332	0.82[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9584335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9590335	0.84[AFR][1000 genomes]
rs9590338	0.88[AFR][1000 genomes]
rs9590340	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9590341	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9590351	0.92[AFR][1000 genomes]
rs9590352	1.00[ASW][hapmap];0.82[CHB][hapmap];0.90[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9590353	0.81[ASW][hapmap];0.82[CHB][hapmap];0.80[LWK][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes]
rs9590354	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9590356	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9590357	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9590359	0.96[ASN][1000 genomes]
rs9590361	0.85[EUR][1000 genomes]
rs9590362	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050430	chr13:96508530-97020734	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv541883	chr13:96508530-97020734	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1041165	chr13:96522021-96966520	Enhancers Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1051574	chr13:96550653-96779248	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1040320	chr13:96573646-96790859	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv869471	chr13:96622327-97223956	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96613200-96694200	Weak transcription	A549	lung
2	chr13:96622200-96671400	Weak transcription	Hela-S3	cervix
3	chr13:96622200-96677200	Weak transcription	NH-A	brain
4	chr13:96651000-96671800	Weak transcription	HSMM	muscle
5	chr13:96657800-96677200	Weak transcription	HSMMtube	muscle
6	chr13:96659400-96672600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:96660200-96682200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr13:96660400-96678600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr13:96660600-96676600	Weak transcription	Osteobl	bone
10	chr13:96660800-96672600	Weak transcription	Liver	Liver
11	chr13:96660800-96684800	Weak transcription	Psoas Muscle	Psoas
12	chr13:96663200-96685400	Weak transcription	HMEC	breast
13	chr13:96663800-96672600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr13:96664000-96677200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr13:96664200-96677600	Weak transcription	NHDF-Ad	bronchial
16	chr13:96664200-96684800	Weak transcription	NHLF	lung
17	chr13:96667200-96672200	Weak transcription	Brain Hippocampus Middle	brain
18	chr13:96668000-96669800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
19	chr13:96668000-96669800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
20	chr13:96668000-96669800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
21	chr13:96668000-96670000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr13:96668000-96670000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr13:96668000-96670400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr13:96668200-96669800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr13:96668200-96669800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
26	chr13:96668200-96669800	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr13:96668200-96669800	ZNF genes & repeats	Fetal Muscle Leg	muscle
28	chr13:96668400-96672600	Weak transcription	Brain Substantia Nigra	brain
29	chr13:96668600-96669800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr13:96668600-96669800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr13:96668600-96669800	ZNF genes & repeats	Lung	lung
32	chr13:96668600-96669800	Strong transcription	Pancreas	Pancrea
33	chr13:96668600-96670800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
34	chr13:96668600-96671000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr13:96668600-96679400	Weak transcription	Fetal Brain Male	brain
36	chr13:96668600-96704400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr13:96668800-96669800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr13:96668800-96669800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr13:96668800-96672800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr13:96668800-96673600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr13:96668800-96685400	Weak transcription	Gastric	stomach
42	chr13:96669000-96669800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr13:96669000-96669800	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr13:96669000-96670400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr13:96669000-96683200	Weak transcription	Esophagus	oesophagus
46	chr13:96669000-96685800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr13:96669000-96686200	Weak transcription	NHEK	skin
48	chr13:96669200-96669800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr13:96669200-96669800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr13:96669200-96669800	Strong transcription	Ovary	ovary

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