Variant report

Variant	rs58370080
Chromosome Location	chr9:5780959-5780960
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:23)

rs_ID	r²[population]
rs10975340	1.00[EUR][1000 genomes]
rs1141025	1.00[EUR][1000 genomes]
rs1260128	1.00[EUR][1000 genomes]
rs1260130	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1260132	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1260134	1.00[EUR][1000 genomes]
rs1260135	1.00[EUR][1000 genomes]
rs1745887	1.00[EUR][1000 genomes]
rs1776008	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2476262	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2760408	1.00[EUR][1000 genomes]
rs2760409	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2760410	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2797512	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2797514	1.00[EUR][1000 genomes]
rs2797516	1.00[EUR][1000 genomes]
rs2797519	1.00[EUR][1000 genomes]
rs6477001	1.00[EUR][1000 genomes]
rs6477002	1.00[EUR][1000 genomes]
rs7037680	1.00[EUR][1000 genomes]
rs7042100	1.00[EUR][1000 genomes]
rs7046793	1.00[EUR][1000 genomes]
rs73377834	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	nsv1017103	chr9:5509431-5987907	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv539965	chr9:5509431-5987907	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1019444	chr9:5598677-5807009	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases
4	nsv892151	chr9:5602528-5841438	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv948847	chr9:5712626-6417677	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv3331803	chr9:5766129-5905103	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv972645	chr9:5776519-5784037	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:5756400-5782000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:5775000-5797000	Weak transcription	Psoas Muscle	Psoas
3	chr9:5776800-5783400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:5777000-5781000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:5777000-5781000	Strong transcription	Muscle Satellite Cultured Cells	--
6	chr9:5777400-5781800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr9:5777600-5782600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr9:5777800-5781000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr9:5777800-5783200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:5778000-5781000	ZNF genes & repeats	Primary B cells from cord blood	blood
11	chr9:5778000-5781800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:5778200-5781800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
13	chr9:5778200-5782800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
14	chr9:5778200-5783800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr9:5778400-5783800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr9:5778600-5782600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr9:5778600-5782800	ZNF genes & repeats	Fetal Intestine Large	intestine
18	chr9:5779000-5781000	Strong transcription	Brain Hippocampus Middle	brain
19	chr9:5779000-5781000	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr9:5779000-5782400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr9:5779000-5792800	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr9:5779000-5793000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr9:5779200-5790800	Strong transcription	Primary T cells from cord blood	blood
24	chr9:5779200-5792800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr9:5779200-5809600	Weak transcription	NHDF-Ad	bronchial
26	chr9:5779200-5832200	Weak transcription	Fetal Brain Male	brain
27	chr9:5779400-5782200	Weak transcription	Fetal Heart	heart
28	chr9:5779400-5782200	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr9:5779400-5782400	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr9:5779400-5785000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr9:5779600-5781000	Strong transcription	Adipose Nuclei	Adipose
32	chr9:5779600-5781600	Strong transcription	Primary B cells from peripheral blood	blood
33	chr9:5779600-5781800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr9:5779600-5782400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr9:5779600-5784800	Weak transcription	HMEC	breast
36	chr9:5779600-5789000	Weak transcription	NH-A	brain
37	chr9:5779600-5814000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr9:5779600-5827800	Weak transcription	Small Intestine	intestine
39	chr9:5779800-5785600	Weak transcription	Right Atrium	heart
40	chr9:5780200-5783600	Strong transcription	Fetal Thymus	thymus
41	chr9:5780400-5781000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr9:5780400-5781800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr9:5780400-5782200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr9:5780400-5785400	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr9:5780400-5785400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr9:5780400-5785600	Weak transcription	Left Ventricle	heart
47	chr9:5780400-5785800	Weak transcription	Colonic Mucosa	Colon
48	chr9:5780400-5786200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr9:5780400-5786400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr9:5780400-5786400	Weak transcription	Spleen	Spleen

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