Variant report

Variant	rs73048838
Chromosome Location	chr5:14730330-14730331
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10062487	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10078335	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10214386	0.82[AFR][1000 genomes]
rs13358074	0.82[AFR][1000 genomes]
rs25945	0.82[EUR][1000 genomes]
rs25951	0.82[EUR][1000 genomes]
rs25952	0.82[EUR][1000 genomes]
rs25986	0.88[EUR][1000 genomes]
rs25987	0.82[EUR][1000 genomes]
rs25988	0.86[EUR][1000 genomes]
rs25992	0.82[EUR][1000 genomes]
rs27882	0.82[EUR][1000 genomes]
rs27911	0.82[EUR][1000 genomes]
rs31919	0.82[EUR][1000 genomes]
rs31920	0.80[EUR][1000 genomes]
rs31921	0.80[EUR][1000 genomes]
rs31923	0.80[EUR][1000 genomes]
rs31926	0.82[EUR][1000 genomes]
rs31928	0.82[EUR][1000 genomes]
rs31930	0.82[EUR][1000 genomes]
rs40578	0.82[EUR][1000 genomes]
rs42358	0.82[EUR][1000 genomes]
rs42681	0.82[EUR][1000 genomes]
rs58610082	0.82[AFR][1000 genomes]
rs73048831	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73048835	1.00[ASN][1000 genomes]
rs73048837	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9312870	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14714200-14740800	Weak transcription	Colon Smooth Muscle	Colon
2	chr5:14715000-14744200	Weak transcription	GM12878-XiMat	blood
3	chr5:14715200-14736200	Weak transcription	Pancreas	Pancrea
4	chr5:14715200-14737400	Weak transcription	Spleen	Spleen
5	chr5:14716000-14730600	Weak transcription	Fetal Thymus	thymus
6	chr5:14716000-14737000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:14717200-14730600	Weak transcription	Ovary	ovary
8	chr5:14718200-14733000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:14721400-14739000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr5:14721400-14741400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr5:14721600-14737800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:14721600-14738200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:14725200-14740200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:14725400-14758600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr5:14725600-14732200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:14725800-14745400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr5:14726800-14739000	Weak transcription	HMEC	breast
18	chr5:14726800-14739600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:14726800-14739600	Weak transcription	NHEK	skin
20	chr5:14727000-14745600	Weak transcription	Placenta	Placenta
21	chr5:14727200-14730600	Weak transcription	Dnd41	blood
22	chr5:14727200-14736400	Weak transcription	Primary T cells from cord blood	blood
23	chr5:14727200-14742600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:14727200-14748000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr5:14727200-14757000	Weak transcription	NHLF	lung
26	chr5:14727800-14730400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:14727800-14739600	Weak transcription	NH-A	brain
28	chr5:14728000-14733000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:14728000-14736800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:14728000-14740600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr5:14728000-14743600	Weak transcription	HSMMtube	muscle
32	chr5:14728000-14745000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr5:14728200-14732000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:14728200-14732000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr5:14728200-14739400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr5:14728200-14739600	Weak transcription	NHDF-Ad	bronchial
37	chr5:14728400-14731000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:14728400-14732600	Weak transcription	Hela-S3	cervix
39	chr5:14728400-14739400	Strong transcription	Osteobl	bone
40	chr5:14728600-14730800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr5:14728600-14732000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr5:14728600-14736400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr5:14728800-14730800	Weak transcription	Fetal Heart	heart
44	chr5:14728800-14732800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr5:14728800-14737200	Weak transcription	Fetal Muscle Leg	muscle
46	chr5:14728800-14738000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:14728800-14745600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr5:14729000-14730400	Enhancers	H1 Cell Line	embryonic stem cell
49	chr5:14729000-14731800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:14729200-14730400	Enhancers	HUES64 Cell Line	embryonic stem cell

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