Variant report

Variant	esv3436431
Chromosome Location	chr9:140454331-140458529
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:140450468..140452580-chr9:140456810..140458829,2	MCF-7	breast:
2	chr9:140448822..140451446-chr9:140457626..140459240,2	K562	blood:
3	chr9:140457953..140460745-chr9:140471921..140474546,2	K562	blood:
4	chr9:140456633..140458761-chr9:140463562..140466881,4	K562	blood:
5	chr9:140455710..140458390-chr9:140463319..140465184,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148399	chromatin interactions

Extended variants
information (count: 173 )
Associated
traits (count: 20 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150541376	chr9:140454347-140454348	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs570156135	chr9:140454369-140454370	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs201576274	chr9:140454370-140454371	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs576240209	chr9:140454373-140454374	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs11794018	chr9:140454380-140454381	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs535666763	chr9:140454391-140454392	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs563551648	chr9:140454393-140454394	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs555114619	chr9:140454398-140454399	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs185504160	chr9:140454558-140454559	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377507402	chr9:140454608-140454609	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs80303761	chr9:140454699-140454700	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544986702	chr9:140454712-140454713	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564143311	chr9:140454731-140454732	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577663505	chr9:140454762-140454763	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535629021	chr9:140454775-140454776	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543443922	chr9:140454780-140454781	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564046657	chr9:140454788-140454789	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1041289	chr9:140454791-140454792	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs549072958	chr9:140454792-140454793	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201435370	chr9:140454804-140454805	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200498064	chr9:140454809-140454810	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78354100	chr9:140454818-140454819	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs55663742	chr9:140454827-140454828	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs532776976	chr9:140454828-140454829	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570550930	chr9:140454835-140454836	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201925201	chr9:140454861-140454862	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189573949	chr9:140454898-140454899	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549488147	chr9:140454930-140454931	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182271638	chr9:140454938-140454939	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569954848	chr9:140454945-140454946	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535352302	chr9:140454948-140454949	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187679484	chr9:140454988-140454989	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141618263	chr9:140454992-140454993	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192073871	chr9:140454997-140454998	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541710529	chr9:140454998-140454999	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557871981	chr9:140455019-140455020	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs578023558	chr9:140455035-140455036	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146191001	chr9:140455072-140455073	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375778394	chr9:140455078-140455079	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113683233	chr9:140455089-140455090	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34708828	chr9:140455103-140455104	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs139090751	chr9:140455123-140455124	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188568080	chr9:140455216-140455217	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560082452	chr9:140455233-140455234	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs193158723	chr9:140455240-140455241	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545601056	chr9:140455285-140455286	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35798746	chr9:140455307-140455308	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373964375	chr9:140455308-140455309	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564196397	chr9:140455334-140455335	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546148385	chr9:140455338-140455339	Weak transcription 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:285 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140446800-140459800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:140447000-140464200	Weak transcription	Fetal Kidney	kidney
3	chr9:140447200-140458200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr9:140447200-140458200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr9:140447200-140459400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr9:140447200-140466400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr9:140447200-140470200	Weak transcription	Stomach Mucosa	stomach
8	chr9:140447200-140471800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr9:140447400-140459800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:140447400-140466400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr9:140447400-140466800	Weak transcription	Psoas Muscle	Psoas
12	chr9:140447400-140469400	Weak transcription	Right Atrium	heart
13	chr9:140447400-140471800	Weak transcription	Small Intestine	intestine
14	chr9:140447600-140455000	Strong transcription	Spleen	Spleen
15	chr9:140447600-140458800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr9:140447600-140459600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:140447600-140459800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr9:140447600-140459800	Strong transcription	Fetal Stomach	stomach
19	chr9:140447800-140455000	Strong transcription	Lung	lung
20	chr9:140448000-140459600	Strong transcription	Fetal Brain Female	brain
21	chr9:140448400-140459600	Strong transcription	Fetal Intestine Large	intestine
22	chr9:140448800-140459800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr9:140449000-140455000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr9:140449000-140459600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr9:140449200-140454800	Strong transcription	Placenta	Placenta
26	chr9:140449200-140459600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr9:140449400-140454800	Strong transcription	Brain Cingulate Gyrus	brain
28	chr9:140449400-140455000	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr9:140449400-140455000	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr9:140449400-140455000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:140449400-140455000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr9:140449400-140459600	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr9:140449400-140459600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr9:140449400-140459600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr9:140449400-140459600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr9:140449600-140454800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr9:140449600-140455000	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr9:140449600-140455000	Strong transcription	Brain Germinal Matrix	brain
39	chr9:140450200-140454800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr9:140450400-140456200	Weak transcription	GM12878-XiMat	blood
41	chr9:140450400-140458200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr9:140451000-140454400	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr9:140451000-140454600	Weak transcription	Fetal Lung	lung
44	chr9:140451000-140456200	Strong transcription	Stomach Smooth Muscle	stomach
45	chr9:140451000-140457400	Weak transcription	Primary B cells from cord blood	blood
46	chr9:140451000-140459600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr9:140451000-140459600	Strong transcription	Fetal Intestine Small	intestine
48	chr9:140451000-140459800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr9:140451200-140454600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr9:140451200-140454800	Strong transcription	Duodenum Mucosa	Duodenum

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