Variant report

Variant	rs73491100
Chromosome Location	chr13:49164352-49164353
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs4151632	0.83[AFR][1000 genomes]
rs57800689	1.00[AFR][1000 genomes]
rs60240141	1.00[AFR][1000 genomes]
rs73479211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73479235	0.83[AFR][1000 genomes]
rs73479241	0.83[AFR][1000 genomes]
rs73479247	0.83[AFR][1000 genomes]
rs73479252	0.83[AFR][1000 genomes]
rs73486810	0.83[AFR][1000 genomes]
rs73486817	0.83[AFR][1000 genomes]
rs73486823	0.83[AFR][1000 genomes]
rs73486824	0.83[AFR][1000 genomes]
rs73492989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73492996	0.83[AFR][1000 genomes]
rs73493007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493070	1.00[AFR][1000 genomes]
rs73493076	1.00[AFR][1000 genomes]
rs73495021	0.83[AFR][1000 genomes]
rs73495107	1.00[AFR][1000 genomes]
rs73495121	1.00[AMR][1000 genomes]
rs9332028	1.00[AMR][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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49157600-49164800	Weak transcription	Gastric	stomach
2	chr13:49160000-49166000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr13:49160200-49166200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr13:49161000-49169600	Weak transcription	HSMM	muscle
5	chr13:49161200-49165400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr13:49161200-49167400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:49161200-49167400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr13:49161400-49164800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr13:49161400-49164800	Weak transcription	Pancreas	Pancrea
10	chr13:49161400-49169600	Weak transcription	Right Atrium	heart
11	chr13:49161400-49176400	Weak transcription	Right Ventricle	heart
12	chr13:49161600-49164600	Weak transcription	Left Ventricle	heart
13	chr13:49161600-49164800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr13:49161600-49165000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr13:49163000-49164800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr13:49163000-49167000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr13:49163200-49166600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr13:49163400-49164600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr13:49163600-49165600	Enhancers	GM12878-XiMat	blood
20	chr13:49163600-49167400	Enhancers	Fetal Intestine Large	intestine
21	chr13:49163800-49164800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr13:49163800-49168200	Enhancers	Fetal Intestine Small	intestine
23	chr13:49163800-49170800	Enhancers	Stomach Mucosa	stomach
24	chr13:49164000-49165400	Enhancers	Placenta	Placenta
25	chr13:49164000-49169800	Enhancers	HepG2	liver
26	chr13:49164200-49164400	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr13:49164200-49165000	Enhancers	Fetal Heart	heart
28	chr13:49164200-49165000	Enhancers	Fetal Muscle Leg	muscle
29	chr13:49164200-49165000	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr13:49164200-49165200	Enhancers	Small Intestine	intestine
31	chr13:49164200-49165400	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr13:49164200-49165400	Enhancers	HSMMtube	muscle

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