Variant report

Variant	rs9316403
Chromosome Location	chr13:49165888-49165889
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10076	0.95[AMR][1000 genomes]
rs10467381	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11840819	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11842402	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11842662	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13378245	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17071917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17071960	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs174854	0.95[AMR][1000 genomes]
rs198565	0.95[AMR][1000 genomes]
rs198573	0.95[AMR][1000 genomes]
rs198581	0.90[AMR][1000 genomes]
rs198583	0.95[AMR][1000 genomes]
rs198587	0.95[AMR][1000 genomes]
rs2984828	0.95[AMR][1000 genomes]
rs3020646	0.95[AMR][1000 genomes]
rs7322110	1.00[AMR][1000 genomes]
rs7332631	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7338141	0.92[AFR][1000 genomes]
rs7984270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9316384	0.82[AMR][1000 genomes]
rs9316387	0.82[AMR][1000 genomes]
rs9316390	0.83[AMR][1000 genomes]
rs9316391	0.83[AMR][1000 genomes]
rs9316392	0.95[AMR][1000 genomes]
rs9316406	0.92[AFR][1000 genomes]
rs9332025	0.83[AMR][1000 genomes]
rs9332036	1.00[AMR][1000 genomes]
rs9332050	0.95[AMR][1000 genomes]
rs9332053	1.00[AMR][1000 genomes]
rs9332066	0.95[AMR][1000 genomes]
rs9591167	1.00[AMR][1000 genomes]
rs9591170	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591171	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9591174	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595913	0.95[AMR][1000 genomes]
rs9595914	0.82[AMR][1000 genomes]
rs9595917	1.00[AMR][1000 genomes]
rs9595930	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595936	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv455881	chr13:49134412-49169570	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv561591	chr13:49134412-49169570	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49160000-49166000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr13:49160200-49166200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr13:49161000-49169600	Weak transcription	HSMM	muscle
4	chr13:49161200-49167400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:49161200-49167400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr13:49161400-49169600	Weak transcription	Right Atrium	heart
7	chr13:49161400-49176400	Weak transcription	Right Ventricle	heart
8	chr13:49163000-49167000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:49163200-49166600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr13:49163600-49167400	Enhancers	Fetal Intestine Large	intestine
11	chr13:49163800-49168200	Enhancers	Fetal Intestine Small	intestine
12	chr13:49163800-49170800	Enhancers	Stomach Mucosa	stomach
13	chr13:49164000-49169800	Enhancers	HepG2	liver
14	chr13:49164600-49166200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr13:49164800-49166600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr13:49165000-49169600	Weak transcription	Fetal Muscle Leg	muscle
17	chr13:49165000-49169600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr13:49165200-49169600	Weak transcription	Left Ventricle	heart
19	chr13:49165200-49169600	Weak transcription	Small Intestine	intestine
20	chr13:49165400-49166400	Enhancers	Duodenum Mucosa	Duodenum
21	chr13:49165400-49167400	Weak transcription	Placenta	Placenta
22	chr13:49165400-49167800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr13:49165400-49168000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr13:49165400-49169600	Weak transcription	Gastric	stomach
25	chr13:49165400-49169600	Weak transcription	Pancreas	Pancrea
26	chr13:49165400-49169600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr13:49165400-49169600	Weak transcription	HSMMtube	muscle
28	chr13:49165600-49166800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr13:49165600-49166800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr13:49165600-49166800	Weak transcription	GM12878-XiMat	blood
31	chr13:49165600-49168400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr13:49165600-49168800	Weak transcription	Hela-S3	cervix
33	chr13:49165600-49169600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr13:49165800-49170000	Enhancers	H1 Cell Line	embryonic stem cell

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