Variant report

Variant	nsv1067894
Chromosome Location	chr9:140708803-140708935
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:140708886-140708972	NHEK	skin:	n/a	n/a
2	POLR2A	chr9:140708896-140709031	MCF-7	breast:	n/a	n/a
3	POLR2A	chr9:140708522-140709135	HL-60	blood:	n/a	n/a
4	POLR2A	chr9:140708567-140709194	GM12892	blood:	n/a	n/a
5	POLR2A	chr9:140708856-140709623	GM12878	blood:	n/a	n/a
6	POLR2A	chr9:140708831-140709976	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
EHMT1	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 20 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565972843	chr9:140708811-140708812	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs57642928	chr9:140708834-140708835	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs373739402	chr9:140708841-140708842	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs200895517	chr9:140708844-140708845	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs558212017	chr9:140708853-140708854	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs370969704	chr9:140708862-140708863	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs374607608	chr9:140708865-140708866	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs368314660	chr9:140708866-140708867	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs372064807	chr9:140708867-140708868	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs543717147	chr9:140708869-140708870	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs374547003	chr9:140708888-140708889	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs557135935	chr9:140708897-140708898	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs367688971	chr9:140708900-140708901	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs137852726	chr9:140708920-140708921	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs137852725	chr9:140708931-140708932	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	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:126 , 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	chr9:140679600-140710200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr9:140681000-140711400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr9:140688200-140710200	Weak transcription	K562	blood
5	chr9:140690200-140711800	Weak transcription	NH-A	brain
6	chr9:140693200-140714600	Weak transcription	Right Atrium	heart
7	chr9:140699600-140710400	Weak transcription	Fetal Heart	heart
8	chr9:140699600-140710400	Weak transcription	Fetal Kidney	kidney
9	chr9:140699800-140719600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr9:140700000-140710400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr9:140701000-140716400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr9:140701800-140712000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:140702000-140712200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:140702000-140713200	Strong transcription	Stomach Smooth Muscle	stomach
15	chr9:140702200-140710200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr9:140702200-140711600	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr9:140702200-140711600	Strong transcription	Placenta	Placenta
18	chr9:140702200-140712000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:140702200-140716600	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr9:140702200-140717200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr9:140702400-140711600	Strong transcription	Lung	lung
22	chr9:140702400-140712400	Strong transcription	Liver	Liver
23	chr9:140702400-140712600	Strong transcription	Fetal Lung	lung
24	chr9:140702400-140713000	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr9:140702400-140713200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr9:140702400-140715000	Strong transcription	Gastric	stomach
27	chr9:140702600-140710200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr9:140702600-140711800	Strong transcription	Aorta	Aorta
29	chr9:140702600-140712000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr9:140702600-140713000	Strong transcription	Duodenum Mucosa	Duodenum
31	chr9:140702600-140714600	Strong transcription	Right Ventricle	heart
32	chr9:140702800-140710000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr9:140702800-140710400	Strong transcription	Thymus	Thymus
34	chr9:140702800-140712200	Strong transcription	Primary T cells from cord blood	blood
35	chr9:140703000-140710200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr9:140703000-140717000	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr9:140703600-140712200	Strong transcription	Spleen	Spleen
38	chr9:140703600-140713400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr9:140703800-140712600	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr9:140703800-140713400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr9:140704000-140711600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr9:140704000-140713200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr9:140704200-140710200	Strong transcription	Fetal Brain Female	brain
44	chr9:140704200-140710600	Strong transcription	Fetal Intestine Small	intestine
45	chr9:140704400-140709800	Strong transcription	Fetal Stomach	stomach
46	chr9:140704800-140711400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr9:140705400-140711000	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr9:140705400-140715800	Strong transcription	Brain Germinal Matrix	brain
49	chr9:140705600-140710800	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr9:140705600-140711200	Strong transcription	Fetal Intestine Large	intestine

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