Variant report

Variant	esv2312884
Chromosome Location	chr9:140674350-140674722
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	chr9:140672962..140675618-chr9:140678748..140680768,2	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	rs545317060	chr9:140674364-140674365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188344765	chr9:140674365-140674366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368554830	chr9:140674433-140674434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575494120	chr9:140674486-140674487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371042218	chr9:140674493-140674494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544385374	chr9:140674509-140674510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201272010	chr9:140674510-140674511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561247026	chr9:140674512-140674513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373614861	chr9:140674530-140674531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77256412	chr9:140674543-140674544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540308997	chr9:140674544-140674545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs202198452	chr9:140674554-140674555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140266338	chr9:140674560-140674561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144176244	chr9:140674585-140674586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552439367	chr9:140674602-140674603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562808902	chr9:140674622-140674623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191832044	chr9:140674627-140674628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548331425	chr9:140674647-140674648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537014590	chr9:140674650-140674651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79025017	chr9:140674659-140674660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567262494	chr9:140674687-140674688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371471061	chr9:140674710-140674711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546323711	chr9:140674714-140674715	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:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140640200-140674800	Strong transcription	HUES48 Cell Line	embryonic stem cell
2	chr9:140649800-140712400	Weak transcription	Psoas Muscle	Psoas
3	chr9:140650000-140679200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:140650200-140678800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr9:140650200-140682600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr9:140650200-140700000	Strong transcription	Primary T cells from cord blood	blood
7	chr9:140652200-140676600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr9:140657400-140674400	Strong transcription	Fetal Thymus	thymus
9	chr9:140657400-140677800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr9:140658200-140674800	Strong transcription	Primary B cells from peripheral blood	blood
11	chr9:140659000-140683600	Strong transcription	Liver	Liver
12	chr9:140663800-140674400	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr9:140663800-140674800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr9:140663800-140674800	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr9:140663800-140680400	Strong transcription	Adipose Nuclei	Adipose
16	chr9:140663800-140682000	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr9:140663800-140683000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr9:140664000-140674600	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr9:140664000-140674800	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr9:140664000-140683000	Strong transcription	Stomach Smooth Muscle	stomach
21	chr9:140664200-140674400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:140664200-140674800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr9:140664200-140681000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr9:140664200-140682600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr9:140664200-140698600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr9:140664200-140701000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr9:140664400-140674800	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr9:140664600-140679000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr9:140664600-140708000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr9:140664800-140674600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr9:140664800-140678600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr9:140664800-140700000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr9:140665000-140681600	Strong transcription	Primary hematopoietic stem cells	blood
34	chr9:140665000-140700000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:140665200-140674400	Strong transcription	Colonic Mucosa	Colon
36	chr9:140665200-140674400	Strong transcription	GM12878-XiMat	blood
37	chr9:140665200-140679200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr9:140665200-140702000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr9:140665400-140675000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr9:140665400-140679400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr9:140665400-140682800	Strong transcription	Fetal Intestine Small	intestine
42	chr9:140665400-140697800	Strong transcription	Thymus	Thymus
43	chr9:140665400-140700800	Strong transcription	Fetal Stomach	stomach
44	chr9:140665600-140679800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr9:140666000-140675000	Weak transcription	Fetal Kidney	kidney
46	chr9:140666200-140682200	Strong transcription	Lung	lung
47	chr9:140666600-140674600	Strong transcription	Fetal Muscle Trunk	muscle
48	chr9:140666600-140682000	Strong transcription	Duodenum Mucosa	Duodenum
49	chr9:140666800-140674800	Strong transcription	Fetal Intestine Large	intestine
50	chr9:140666800-140674800	Strong transcription	Placenta	Placenta

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