Variant report

Variant	esv3367968
Chromosome Location	chr9:140619337-140619626
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	chr9:140616597..140619590-chr9:140626319..140628863,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 20 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145004514	chr9:140619350-140619351	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145838989	chr9:140619357-140619358	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558953186	chr9:140619358-140619359	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575802430	chr9:140619374-140619375	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28708431	chr9:140619382-140619383	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28500657	chr9:140619393-140619394	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs28462314	chr9:140619396-140619397	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs28408931	chr9:140619403-140619404	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs149431370	chr9:140619404-140619405	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368827404	chr9:140619414-140619415	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146669408	chr9:140619429-140619430	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542678095	chr9:140619436-140619437	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373197893	chr9:140619488-140619489	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28620774	chr9:140619491-140619492	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs551668032	chr9:140619493-140619494	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371046228	chr9:140619496-140619497	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571406006	chr9:140619499-140619500	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376424415	chr9:140619509-140619510	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370542366	chr9:140619521-140619522	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11137189	chr9:140619553-140619554	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113926103	chr9:140619556-140619557	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550493979	chr9:140619564-140619565	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76765640	chr9:140619608-140619609	Weak transcription ZNF genes & repeats Genic enhancers Strong 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:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140573000-140638400	Weak transcription	Small Intestine	intestine
2	chr9:140598800-140649800	Weak transcription	Stomach Mucosa	stomach
3	chr9:140603200-140634000	Weak transcription	Fetal Heart	heart
4	chr9:140604000-140634200	Weak transcription	Right Atrium	heart
5	chr9:140610800-140640000	Weak transcription	HUVEC	blood vessel
6	chr9:140613000-140620200	Weak transcription	Fetal Kidney	kidney
7	chr9:140613000-140620400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr9:140613000-140622600	Weak transcription	HSMM	muscle
9	chr9:140613000-140624200	Weak transcription	Brain Angular Gyrus	brain
10	chr9:140613000-140628400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr9:140614400-140622200	Weak transcription	HepG2	liver
12	chr9:140615000-140619600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
13	chr9:140615400-140620200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:140615400-140622800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr9:140615600-140619400	Weak transcription	Brain Germinal Matrix	brain
16	chr9:140615600-140619600	Weak transcription	Aorta	Aorta
17	chr9:140615600-140620200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr9:140615600-140620600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr9:140615600-140621200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr9:140615800-140619400	Weak transcription	Liver	Liver
21	chr9:140615800-140619600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr9:140615800-140619800	Weak transcription	Fetal Lung	lung
23	chr9:140615800-140620000	Weak transcription	Fetal Brain Female	brain
24	chr9:140615800-140620200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr9:140615800-140621000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr9:140615800-140622000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr9:140615800-140622800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr9:140615800-140625800	Strong transcription	Thymus	Thymus
29	chr9:140616000-140620600	Enhancers	Primary T cells fromperipheralblood	blood
30	chr9:140616000-140620600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr9:140616200-140619800	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr9:140616200-140620000	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr9:140616200-140620200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr9:140616200-140620200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr9:140616400-140619600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr9:140616600-140619600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr9:140617000-140620000	Enhancers	Spleen	Spleen
38	chr9:140617200-140622600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr9:140617600-140619600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr9:140617800-140620200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr9:140618000-140619400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr9:140618000-140624400	Strong transcription	Dnd41	blood
43	chr9:140618200-140619400	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr9:140618200-140619400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr9:140618200-140619400	Strong transcription	Fetal Stomach	stomach
46	chr9:140618200-140619600	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr9:140618200-140619800	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr9:140618200-140620600	Genic enhancers	Lung	lung
49	chr9:140618200-140620800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
50	chr9:140618200-140625600	Strong transcription	Fetal Muscle Leg	muscle

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