Variant report

Variant	nsv825195
Chromosome Location	chr9:140704921-140705502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:140700980..140705198-chr9:140707876..140710677,3	K562	blood:
2	chr9:140679440..140682132-chr9:140702994..140705523,2	K562	blood:

Variant related genes	Relation type
ENSG00000181090	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 20 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190250039	chr9:140704922-140704923	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs573788718	chr9:140704934-140704935	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs545562841	chr9:140704942-140704943	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs557616769	chr9:140704967-140704968	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs182459469	chr9:140704972-140704973	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs542421194	chr9:140704974-140704975	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs145783894	chr9:140704990-140704991	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs370653787	chr9:140704995-140704996	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs563298224	chr9:140705007-140705008	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs573651906	chr9:140705008-140705009	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs542955929	chr9:140705022-140705023	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs559668034	chr9:140705084-140705085	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs528321269	chr9:140705133-140705134	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs560047331	chr9:140705156-140705157	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs551548444	chr9:140705172-140705173	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs573030611	chr9:140705213-140705214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56062312	chr9:140705269-140705270	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs192599884	chr9:140705308-140705309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185593751	chr9:140705309-140705310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546485015	chr9:140705313-140705314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375490068	chr9:140705343-140705344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546917285	chr9:140705419-140705420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566821588	chr9:140705448-140705449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538905030	chr9:140705470-140705471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564537139	chr9:140705480-140705481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138627742	chr9:140705491-140705492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:20)

Disease	PMID	Source
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140649800-140712400	Weak transcription	Psoas Muscle	Psoas
2	chr9:140664600-140708000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr9:140679600-140710200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr9:140681000-140711400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr9:140688200-140710200	Weak transcription	K562	blood
6	chr9:140690200-140707000	Weak transcription	NHDF-Ad	bronchial
7	chr9:140690200-140708800	Weak transcription	Stomach Mucosa	stomach
8	chr9:140690200-140711800	Weak transcription	NH-A	brain
9	chr9:140693200-140714600	Weak transcription	Right Atrium	heart
10	chr9:140697600-140707000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr9:140698000-140705800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr9:140698000-140706000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr9:140698200-140706600	Weak transcription	Brain Hippocampus Middle	brain
14	chr9:140698600-140705800	Weak transcription	Left Ventricle	heart
15	chr9:140698600-140707000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:140698800-140706200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr9:140699600-140705800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr9:140699600-140706800	Weak transcription	HepG2	liver
19	chr9:140699600-140707800	Weak transcription	Brain Angular Gyrus	brain
20	chr9:140699600-140708000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr9:140699600-140710400	Weak transcription	Fetal Heart	heart
22	chr9:140699600-140710400	Weak transcription	Fetal Kidney	kidney
23	chr9:140699800-140705800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:140699800-140705800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr9:140699800-140705800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr9:140699800-140705800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr9:140699800-140706000	Weak transcription	Colonic Mucosa	Colon
28	chr9:140699800-140706800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr9:140699800-140719600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr9:140700000-140705800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr9:140700000-140705800	Weak transcription	Brain Substantia Nigra	brain
32	chr9:140700000-140706000	Weak transcription	Brain Anterior Caudate	brain
33	chr9:140700000-140706000	Weak transcription	HSMMtube	muscle
34	chr9:140700000-140707000	Weak transcription	NHEK	skin
35	chr9:140700000-140707400	Weak transcription	Osteobl	bone
36	chr9:140700000-140707600	Weak transcription	NHLF	lung
37	chr9:140700000-140708200	Weak transcription	HMEC	breast
38	chr9:140700000-140708400	Weak transcription	HSMM	muscle
39	chr9:140700000-140710400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr9:140701000-140716400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr9:140701800-140708000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr9:140701800-140708200	Strong transcription	Esophagus	oesophagus
43	chr9:140701800-140712000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:140702000-140712200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr9:140702000-140713200	Strong transcription	Stomach Smooth Muscle	stomach
46	chr9:140702200-140706400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr9:140702200-140710200	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr9:140702200-140711600	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr9:140702200-140711600	Strong transcription	Placenta	Placenta
50	chr9:140702200-140712000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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