Variant report

Variant	esv3434264
Chromosome Location	chr9:140548474-140548905
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	chr9:140538417..140540592-chr9:140547579..140549724,2	MCF-7	breast:

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

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533389995	chr9:140548489-140548490	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565053558	chr9:140548504-140548505	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12350209	chr9:140548509-140548510	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs562446900	chr9:140548510-140548511	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139895485	chr9:140548521-140548522	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547895964	chr9:140548529-140548530	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547276932	chr9:140548559-140548560	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527258397	chr9:140548561-140548562	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143295239	chr9:140548569-140548570	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570716487	chr9:140548571-140548572	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375258954	chr9:140548572-140548573	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556292480	chr9:140548582-140548583	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570144588	chr9:140548618-140548619	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570064931	chr9:140548636-140548637	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190737663	chr9:140548705-140548706	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184168955	chr9:140548730-140548731	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572152908	chr9:140548739-140548740	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs151160946	chr9:140548751-140548752	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187645354	chr9:140548787-140548788	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs578162899	chr9:140548793-140548794	Strong transcription Weak transcription Enhancers	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140516200-140558800	Weak transcription	NH-A	brain
2	chr9:140520000-140549800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr9:140523400-140563400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr9:140526600-140557800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr9:140527400-140557600	Weak transcription	Fetal Kidney	kidney
6	chr9:140527600-140549800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr9:140527600-140551400	Weak transcription	Pancreas	Pancrea
8	chr9:140527600-140563800	Weak transcription	Aorta	Aorta
9	chr9:140527800-140559200	Weak transcription	Brain Hippocampus Middle	brain
10	chr9:140528000-140560600	Weak transcription	HUVEC	blood vessel
11	chr9:140528200-140550000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr9:140531000-140564800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr9:140533400-140559400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:140534200-140559800	Weak transcription	NHLF	lung
15	chr9:140534400-140555000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr9:140534400-140559200	Weak transcription	Colon Smooth Muscle	Colon
17	chr9:140534400-140563400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr9:140534600-140551200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr9:140534600-140551600	Weak transcription	Right Atrium	heart
20	chr9:140534600-140560400	Weak transcription	Colonic Mucosa	Colon
21	chr9:140534600-140572600	Weak transcription	Small Intestine	intestine
22	chr9:140535200-140553000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:140535600-140553000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr9:140535600-140559000	Weak transcription	Fetal Brain Male	brain
25	chr9:140536000-140551800	Strong transcription	Fetal Intestine Small	intestine
26	chr9:140537600-140559000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr9:140538200-140549000	Weak transcription	Ovary	ovary
28	chr9:140538800-140549800	Weak transcription	Dnd41	blood
29	chr9:140538800-140552400	Weak transcription	HSMMtube	muscle
30	chr9:140538800-140559800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr9:140540200-140554600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr9:140540200-140560200	Weak transcription	Psoas Muscle	Psoas
33	chr9:140540200-140564800	Weak transcription	HMEC	breast
34	chr9:140540400-140554800	Weak transcription	Brain Substantia Nigra	brain
35	chr9:140540400-140559000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr9:140540400-140559200	Weak transcription	Brain Angular Gyrus	brain
37	chr9:140540800-140551800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr9:140541000-140549200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr9:140541800-140549000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr9:140541800-140557600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr9:140542000-140549000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr9:140542000-140549800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr9:140542000-140551400	Weak transcription	Right Ventricle	heart
44	chr9:140542000-140557600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr9:140542000-140559200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr9:140542000-140559800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr9:140542200-140552800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr9:140542400-140548600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr9:140542400-140549000	Weak transcription	A549	lung
50	chr9:140542400-140551600	Weak transcription	Lung	lung

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