Variant report

Variant	esv3324382
Chromosome Location	chr9:140674644-140675911
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	chr9:140675774..140679711-chr9:140680099..140683198,4	K562	blood:
2	chr9:140672962..140675618-chr9:140678748..140680768,2	K562	blood:

Variant related genes	Relation type
ENSG00000255585	chromatin interactions

Extended variants
information (count: 147 )
Associated
traits (count: 20 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548331425	chr9:140674647-140674648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537014590	chr9:140674650-140674651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79025017	chr9:140674659-140674660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567262494	chr9:140674687-140674688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371471061	chr9:140674710-140674711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546323711	chr9:140674714-140674715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201220949	chr9:140674728-140674729	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74372150	chr9:140674733-140674734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566438981	chr9:140674742-140674743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538967898	chr9:140674760-140674761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558906121	chr9:140674770-140674771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112964580	chr9:140674797-140674798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575581485	chr9:140674806-140674807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138515965	chr9:140674808-140674809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78766924	chr9:140674818-140674819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200447212	chr9:140674828-140674829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112999135	chr9:140674836-140674837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112169878	chr9:140674844-140674845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368646562	chr9:140674904-140674905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540701272	chr9:140674944-140674945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560319855	chr9:140674947-140674948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576843512	chr9:140674958-140674959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62589685	chr9:140674961-140674962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545766293	chr9:140674973-140674974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562848094	chr9:140674974-140674975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531846915	chr9:140674976-140674977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548411408	chr9:140674982-140674983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372282417	chr9:140675008-140675009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562301498	chr9:140675028-140675029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529777218	chr9:140675034-140675035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373431386	chr9:140675081-140675082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs55679067	chr9:140675088-140675089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377276966	chr9:140675102-140675103	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202082275	chr9:140675123-140675124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111698230	chr9:140675135-140675136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375603039	chr9:140675144-140675145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566409260	chr9:140675147-140675148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112912853	chr9:140675154-140675155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538659309	chr9:140675160-140675161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111804906	chr9:140675165-140675166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62589686	chr9:140675174-140675175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111842515	chr9:140675181-140675182	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569182802	chr9:140675185-140675186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76328613	chr9:140675190-140675191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75885564	chr9:140675210-140675211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112950517	chr9:140675213-140675214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113049540	chr9:140675218-140675219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113668308	chr9:140675234-140675235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538135024	chr9:140675255-140675256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375773616	chr9:140675257-140675258	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:180 , 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	chr9:140657400-140677800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:140658200-140674800	Strong transcription	Primary B cells from peripheral blood	blood
10	chr9:140659000-140683600	Strong transcription	Liver	Liver
11	chr9:140663800-140674800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr9:140663800-140674800	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr9:140663800-140680400	Strong transcription	Adipose Nuclei	Adipose
14	chr9:140663800-140682000	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr9:140663800-140683000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr9:140664000-140674800	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr9:140664000-140683000	Strong transcription	Stomach Smooth Muscle	stomach
18	chr9:140664200-140674800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr9:140664200-140681000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr9:140664200-140682600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr9:140664200-140698600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr9:140664200-140701000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr9:140664400-140674800	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr9:140664600-140679000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:140664600-140708000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr9:140664800-140678600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr9:140664800-140700000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr9:140665000-140681600	Strong transcription	Primary hematopoietic stem cells	blood
29	chr9:140665000-140700000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr9:140665200-140679200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr9:140665200-140702000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:140665400-140675000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr9:140665400-140679400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr9:140665400-140682800	Strong transcription	Fetal Intestine Small	intestine
35	chr9:140665400-140697800	Strong transcription	Thymus	Thymus
36	chr9:140665400-140700800	Strong transcription	Fetal Stomach	stomach
37	chr9:140665600-140679800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:140666000-140675000	Weak transcription	Fetal Kidney	kidney
39	chr9:140666200-140682200	Strong transcription	Lung	lung
40	chr9:140666600-140682000	Strong transcription	Duodenum Mucosa	Duodenum
41	chr9:140666800-140674800	Strong transcription	Fetal Intestine Large	intestine
42	chr9:140666800-140674800	Strong transcription	Placenta	Placenta
43	chr9:140667000-140679600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr9:140667200-140679800	Strong transcription	Gastric	stomach
45	chr9:140667200-140698000	Strong transcription	Dnd41	blood
46	chr9:140667200-140699000	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr9:140667400-140674800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
48	chr9:140667400-140679000	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr9:140667600-140679200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr9:140667800-140677800	Strong transcription	H1 Cell Line	embryonic stem cell

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