Variant report

Variant	rs58449392
Chromosome Location	chr9:116321845-116321846
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116321505..116323280-chr9:116330950..116333354,2	K562	blood:
2	chr9:116308444..116310655-chr9:116320380..116322408,2	K562	blood:
3	chr9:116321376..116324696-chr9:116326302..116330504,5	MCF-7	breast:
4	chr9:116321637..116324327-chr9:116325655..116328382,2	K562	blood:
5	chr9:116320857..116323715-chr9:116338405..116341274,2	MCF-7	breast:
6	chr9:116320269..116322424-chr9:116341614..116344375,2	MCF-7	breast:
7	chr9:116316766..116318974-chr9:116321066..116324135,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138835	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12350531	0.81[ASN][1000 genomes]
rs12685417	0.84[ASN][1000 genomes]
rs12686023	1.00[ASN][1000 genomes]
rs17187621	0.80[ASN][1000 genomes]
rs61558718	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72763856	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv893747	chr9:116214058-116386438	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv466508	chr9:116244982-116362738	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv615215	chr9:116244982-116362738	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv526579	chr9:116244982-116391162	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv893748	chr9:116308709-116421786	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116304400-116323600	Weak transcription	Hela-S3	cervix
2	chr9:116311200-116323000	Weak transcription	Primary T cells from cord blood	blood
3	chr9:116311200-116326600	Weak transcription	Fetal Thymus	thymus
4	chr9:116311400-116322400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr9:116311400-116322400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr9:116311400-116326200	Weak transcription	Fetal Intestine Large	intestine
7	chr9:116311600-116322200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr9:116311600-116322400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr9:116311600-116326800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr9:116311600-116331600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr9:116311800-116322400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr9:116318000-116322800	Enhancers	NHLF	lung
13	chr9:116318200-116323200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr9:116318800-116322200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr9:116318800-116322800	Enhancers	Left Ventricle	heart
16	chr9:116318800-116322800	Enhancers	Right Atrium	heart
17	chr9:116318800-116323000	Enhancers	Fetal Heart	heart
18	chr9:116318800-116323200	Enhancers	Ovary	ovary
19	chr9:116319000-116322800	Enhancers	Right Ventricle	heart
20	chr9:116319000-116326600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:116319200-116323200	Enhancers	Pancreas	Pancrea
22	chr9:116319600-116322400	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr9:116319600-116322600	Enhancers	Placenta	Placenta
24	chr9:116319800-116322800	Enhancers	Spleen	Spleen
25	chr9:116320000-116322800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr9:116320400-116324000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr9:116320600-116322200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr9:116320600-116322200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:116320800-116322000	Enhancers	Fetal Stomach	stomach
30	chr9:116320800-116322200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr9:116320800-116322200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr9:116320800-116322200	Enhancers	Liver	Liver
33	chr9:116320800-116322200	Enhancers	HUVEC	blood vessel
34	chr9:116320800-116322200	Enhancers	NHDF-Ad	bronchial
35	chr9:116320800-116322200	Enhancers	Osteobl	bone
36	chr9:116320800-116322800	Enhancers	Adipose Nuclei	Adipose
37	chr9:116321000-116322000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr9:116321000-116322000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr9:116321000-116322000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr9:116321000-116322000	Enhancers	Brain Hippocampus Middle	brain
41	chr9:116321000-116322000	Enhancers	Colonic Mucosa	Colon
42	chr9:116321000-116322000	Enhancers	Colon Smooth Muscle	Colon
43	chr9:116321000-116322000	Enhancers	Fetal Lung	lung
44	chr9:116321000-116322000	Enhancers	Psoas Muscle	Psoas
45	chr9:116321000-116322000	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr9:116321000-116322000	Enhancers	Small Intestine	intestine
47	chr9:116321000-116322000	Enhancers	NH-A	brain
48	chr9:116321000-116322200	Enhancers	Brain Angular Gyrus	brain
49	chr9:116321000-116322200	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr9:116321000-116322200	Enhancers	Brain Substantia Nigra	brain

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