Variant report

Variant	nsv969738
Chromosome Location	chr9:71707943-71719861
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:71704193..71706680-chr9:71707400..71709954,2	K562	blood:
2	chr9:71704008..71706268-chr9:71714594..71717470,2	MCF-7	breast:
3	chr9:71704381..71705131-chr9:71714234..71715231,2	MCF-7	breast:
4	chr9:71718282..71721853-chr9:71734600..71737822,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119139	chromatin interactions

Extended variants
information (count: 506 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:506 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186895823	chr9:71707957-71707958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192514228	chr9:71708073-71708074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538824953	chr9:71708091-71708092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146650645	chr9:71708123-71708124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566389251	chr9:71708124-71708125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573359740	chr9:71708206-71708207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139117957	chr9:71708237-71708238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552217953	chr9:71708239-71708240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372604803	chr9:71708240-71708241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112454579	chr9:71708260-71708261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200713454	chr9:71708335-71708336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574276300	chr9:71708353-71708354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544535595	chr9:71708362-71708363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555281927	chr9:71708363-71708364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563185824	chr9:71708368-71708369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs578142070	chr9:71708379-71708380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144658923	chr9:71708435-71708436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116577073	chr9:71708468-71708469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7043526	chr9:71708485-71708486	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs535864033	chr9:71708513-71708514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200881094	chr9:71708516-71708517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114511620	chr9:71708561-71708562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148590725	chr9:71708588-71708589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371658388	chr9:71708650-71708651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531328680	chr9:71708665-71708666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549856204	chr9:71708673-71708674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571496840	chr9:71708701-71708702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556235178	chr9:71708793-71708794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538492603	chr9:71708809-71708810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547579509	chr9:71708812-71708813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141973355	chr9:71708830-71708831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576009249	chr9:71708863-71708864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146125547	chr9:71708868-71708869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34709300	chr9:71708884-71708885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs118028854	chr9:71708933-71708934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12338365	chr9:71708944-71708945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564704828	chr9:71708958-71708959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374187627	chr9:71708999-71709000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538233201	chr9:71709052-71709053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200462660	chr9:71709078-71709079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112461274	chr9:71709080-71709081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115134150	chr9:71709091-71709092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7851458	chr9:71709115-71709116	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs7847872	chr9:71709144-71709145	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs560268746	chr9:71709173-71709174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185079287	chr9:71709192-71709193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577150064	chr9:71709246-71709247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571819192	chr9:71709258-71709259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113953426	chr9:71709259-71709260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10869847	chr9:71709266-71709267	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17899364	CNVD
Mantle cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71688800-71709200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr9:71694200-71711800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:71701400-71714400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:71701600-71709400	Weak transcription	Gastric	stomach
5	chr9:71701800-71735200	Weak transcription	Primary T cells from cord blood	blood
6	chr9:71702000-71716800	Weak transcription	Fetal Heart	heart
7	chr9:71702200-71708200	Weak transcription	Pancreas	Pancrea
8	chr9:71702400-71711200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr9:71704800-71708600	Weak transcription	Fetal Intestine Large	intestine
10	chr9:71704800-71708800	Weak transcription	Right Ventricle	heart
11	chr9:71705400-71708200	Weak transcription	Fetal Intestine Small	intestine
12	chr9:71705800-71708200	Weak transcription	Stomach Mucosa	stomach
13	chr9:71706200-71708000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr9:71706200-71709000	Weak transcription	Fetal Kidney	kidney
15	chr9:71706200-71712800	Weak transcription	Fetal Lung	lung
16	chr9:71706200-71716200	Weak transcription	Fetal Stomach	stomach
17	chr9:71706200-71720200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr9:71706400-71708000	Weak transcription	Liver	Liver
19	chr9:71706400-71711800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr9:71706400-71711800	Weak transcription	Small Intestine	intestine
21	chr9:71706600-71710600	Weak transcription	HUVEC	blood vessel
22	chr9:71706600-71711600	Weak transcription	NHEK	skin
23	chr9:71706600-71711800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr9:71707200-71709200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr9:71707400-71708800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr9:71707600-71709200	Enhancers	HepG2	liver
27	chr9:71707600-71711000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr9:71708000-71709200	Enhancers	Liver	Liver
29	chr9:71708200-71709000	Enhancers	Colonic Mucosa	Colon
30	chr9:71708200-71709000	Enhancers	Pancreas	Pancrea
31	chr9:71708200-71709600	Enhancers	Stomach Mucosa	stomach
32	chr9:71708200-71710000	Enhancers	Fetal Intestine Small	intestine
33	chr9:71708600-71709200	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr9:71708600-71709600	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr9:71708600-71709800	Enhancers	Duodenum Mucosa	Duodenum
36	chr9:71708600-71713200	Enhancers	Fetal Intestine Large	intestine
37	chr9:71708800-71709000	Enhancers	Right Ventricle	heart
38	chr9:71708800-71710800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr9:71709000-71711800	Weak transcription	Colonic Mucosa	Colon
40	chr9:71709200-71711200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr9:71709200-71711600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr9:71709200-71711800	Weak transcription	Liver	Liver
43	chr9:71709400-71710200	Enhancers	Gastric	stomach
44	chr9:71709600-71710600	Weak transcription	Stomach Mucosa	stomach
45	chr9:71709600-71711000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr9:71709800-71711000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr9:71710000-71710400	Weak transcription	Fetal Intestine Small	intestine
48	chr9:71710200-71714400	Weak transcription	Gastric	stomach
49	chr9:71710200-71719400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr9:71710400-71711600	Weak transcription	Fetal Kidney	kidney

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