Variant report

Variant	rs73483192
Chromosome Location	chr13:48734491-48734492
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs61120954	1.00[AMR][1000 genomes]
rs73485048	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1047140	chr13:48703732-48765860	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv541767	chr13:48703732-48765860	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48724200-48738200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr13:48726400-48735400	Weak transcription	Lung	lung
3	chr13:48728600-48735400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr13:48730400-48735400	Enhancers	Primary B cells from cord blood	blood
5	chr13:48730800-48734600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr13:48730800-48734800	Weak transcription	K562	blood
7	chr13:48730800-48735400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr13:48731000-48734800	Weak transcription	Brain Anterior Caudate	brain
9	chr13:48731000-48734800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr13:48731000-48735800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr13:48731200-48735800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr13:48732000-48735200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr13:48732000-48735800	Enhancers	Placenta	Placenta
14	chr13:48732200-48735400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr13:48732200-48735800	Enhancers	HMEC	breast
16	chr13:48732400-48735000	Enhancers	Fetal Kidney	kidney
17	chr13:48732400-48735800	Enhancers	HSMM	muscle
18	chr13:48732400-48736000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr13:48732400-48738000	Enhancers	Adipose Nuclei	Adipose
20	chr13:48732600-48737000	Enhancers	Primary hematopoietic stem cells	blood
21	chr13:48733000-48735600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr13:48733000-48735600	Enhancers	Hela-S3	cervix
23	chr13:48733200-48734800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr13:48733200-48735600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr13:48733200-48735800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr13:48733200-48736000	Weak transcription	Fetal Lung	lung
27	chr13:48733400-48734600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr13:48733400-48734800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr13:48733400-48735000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr13:48733400-48735200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr13:48733400-48735400	Enhancers	NH-A	brain
32	chr13:48733400-48735800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr13:48733600-48734800	Enhancers	NHDF-Ad	bronchial
34	chr13:48733600-48735600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr13:48733800-48734800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr13:48733800-48734800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr13:48733800-48734800	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr13:48733800-48734800	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr13:48733800-48734800	Weak transcription	Left Ventricle	heart
40	chr13:48733800-48735400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr13:48733800-48735400	Weak transcription	Esophagus	oesophagus
42	chr13:48733800-48735600	Enhancers	Osteobl	bone
43	chr13:48733800-48738800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr13:48734000-48734800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr13:48734000-48734800	Weak transcription	Small Intestine	intestine
46	chr13:48734000-48735000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr13:48734000-48735200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr13:48734000-48735200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr13:48734000-48735400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr13:48734000-48735400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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