Variant report

Variant	rs4404685
Chromosome Location	chr5:43466832-43466833
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:30)

rs_ID	r²[population]
rs10039298	1.00[AMR][1000 genomes]
rs10068155	1.00[AMR][1000 genomes]
rs10070435	1.00[AMR][1000 genomes]
rs10805677	1.00[AMR][1000 genomes]
rs10941641	1.00[AMR][1000 genomes]
rs11741521	1.00[AMR][1000 genomes]
rs12514093	1.00[AMR][1000 genomes]
rs4302596	1.00[AMR][1000 genomes]
rs4510596	1.00[AMR][1000 genomes]
rs4513705	1.00[AMR][1000 genomes]
rs4549534	1.00[AMR][1000 genomes]
rs4597976	1.00[AMR][1000 genomes]
rs4640799	1.00[AMR][1000 genomes]
rs4866748	1.00[AMR][1000 genomes]
rs4866749	1.00[AMR][1000 genomes]
rs4866750	1.00[AMR][1000 genomes]
rs6451713	1.00[AMR][1000 genomes]
rs6451714	1.00[AMR][1000 genomes]
rs6863997	1.00[AMR][1000 genomes]
rs6872851	1.00[AMR][1000 genomes]
rs6874647	1.00[AMR][1000 genomes]
rs6876588	1.00[AMR][1000 genomes]
rs6896358	1.00[AMR][1000 genomes]
rs6897657	1.00[AMR][1000 genomes]
rs7717328	1.00[AMR][1000 genomes]
rs7719588	1.00[AMR][1000 genomes]
rs7721790	1.00[AMR][1000 genomes]
rs7722475	1.00[AMR][1000 genomes]
rs7732089	1.00[AMR][1000 genomes]
rs7737410	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43433800-43483400	Weak transcription	Gastric	stomach
2	chr5:43444000-43467000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr5:43444000-43467000	Weak transcription	Left Ventricle	heart
4	chr5:43444000-43482600	Weak transcription	HMEC	breast
5	chr5:43444200-43467000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:43444200-43472600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr5:43444800-43482600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr5:43448200-43467400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr5:43448200-43471800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr5:43453800-43482600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr5:43454000-43482400	Weak transcription	Osteobl	bone
12	chr5:43454800-43482800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr5:43460400-43467000	Weak transcription	Ovary	ovary
14	chr5:43460400-43467400	Weak transcription	HUVEC	blood vessel
15	chr5:43460400-43472600	Weak transcription	Fetal Kidney	kidney
16	chr5:43460600-43471600	Weak transcription	NHDF-Ad	bronchial
17	chr5:43460600-43472000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:43461000-43470000	Weak transcription	HSMMtube	muscle
19	chr5:43461000-43482400	Weak transcription	NHLF	lung
20	chr5:43461200-43467000	Weak transcription	Aorta	Aorta
21	chr5:43461200-43468000	Weak transcription	Thymus	Thymus
22	chr5:43461200-43482800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr5:43461200-43483400	Weak transcription	Pancreas	Pancrea
24	chr5:43461600-43469800	Weak transcription	HSMM	muscle
25	chr5:43462200-43467400	Weak transcription	NHEK	skin
26	chr5:43462200-43467600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr5:43462200-43474000	Weak transcription	Lung	lung
28	chr5:43462200-43482600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:43462200-43482600	Weak transcription	Fetal Stomach	stomach
30	chr5:43462200-43482800	Weak transcription	Right Ventricle	heart
31	chr5:43462400-43483000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr5:43462400-43483400	Weak transcription	Spleen	Spleen
33	chr5:43462600-43467400	Weak transcription	Hela-S3	cervix
34	chr5:43464000-43467800	Weak transcription	Fetal Thymus	thymus
35	chr5:43464200-43480000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr5:43465000-43470200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:43465600-43467600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:43465600-43481200	Weak transcription	HepG2	liver
39	chr5:43465800-43467400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
40	chr5:43465800-43468000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:43466000-43468200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:43466200-43467000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
43	chr5:43466200-43467000	ZNF genes & repeats	Primary T cells from cord blood	blood
44	chr5:43466200-43467200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
45	chr5:43466200-43467400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr5:43466200-43467600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:43466200-43467800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:43466200-43468000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:43466200-43468000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:43466200-43468000	ZNF genes & repeats	GM12878-XiMat	blood

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