Variant report

Variant	esv3350894
Chromosome Location	chr9:71981682-71983880
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	MAFF	chr9:71983293-71983402	HepG2	liver:	n/a	n/a
2	MAFK	chr9:71983212-71983445	HepG2	liver:	n/a	n/a
3	MAFK	chr9:71983228-71983474	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:71975450..71977804-chr9:71980766..71982423,2	MCF-7	breast:

Variant related genes	Relation type
FAM189A2	TF binding region

Extended variants
information (count: 120 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151189577	chr9:71981728-71981729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370166389	chr9:71981733-71981734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548872468	chr9:71981786-71981787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562687454	chr9:71981814-71981815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531492821	chr9:71981853-71981854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537229646	chr9:71981877-71981878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141014556	chr9:71981921-71981922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144709702	chr9:71981932-71981933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531167403	chr9:71981992-71981993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142420575	chr9:71982008-71982009	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs57923397	chr9:71982026-71982027	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs373587214	chr9:71982044-71982045	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs551703793	chr9:71982087-71982088	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs552554535	chr9:71982094-71982095	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs10867414	chr9:71982099-71982100	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs193108643	chr9:71982114-71982115	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs556959957	chr9:71982119-71982120	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs575424362	chr9:71982208-71982209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200258704	chr9:71982212-71982213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545677906	chr9:71982220-71982221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375013501	chr9:71982249-71982250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547457328	chr9:71982260-71982261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367890362	chr9:71982269-71982270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565419531	chr9:71982293-71982294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567773204	chr9:71982300-71982301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532661524	chr9:71982306-71982307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201881140	chr9:71982314-71982315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11138332	chr9:71982338-71982339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs76611639	chr9:71982369-71982370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11138334	chr9:71982383-71982384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs56955534	chr9:71982400-71982401	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs548933551	chr9:71982431-71982432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28796888	chr9:71982496-71982497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201376067	chr9:71982516-71982517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570230611	chr9:71982529-71982530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185363031	chr9:71982530-71982531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189673770	chr9:71982551-71982552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374954980	chr9:71982570-71982571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369123221	chr9:71982572-71982573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373691727	chr9:71982584-71982585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376799726	chr9:71982588-71982589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138576051	chr9:71982589-71982590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs55944446	chr9:71982595-71982596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374188769	chr9:71982596-71982597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13298644	chr9:71982598-71982599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13293669	chr9:71982608-71982609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12004089	chr9:71982612-71982613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs58834073	chr9:71982620-71982621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs59151654	chr9:71982622-71982623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71483538	chr9:71982632-71982633	Weak transcription	n/a	n/a	Overlapped CNVs	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71955400-71981800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:71962200-71994200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:71963200-71991800	Weak transcription	Pancreas	Pancrea
4	chr9:71972600-71991800	Weak transcription	Right Atrium	heart
5	chr9:71972800-71991400	Weak transcription	Fetal Muscle Leg	muscle
6	chr9:71973000-71986200	Weak transcription	Stomach Mucosa	stomach
7	chr9:71974800-71982000	Weak transcription	Ovary	ovary
8	chr9:71977400-71992400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:71978600-71985200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr9:71978800-71987200	Weak transcription	Psoas Muscle	Psoas
11	chr9:71978800-71989200	Weak transcription	Right Ventricle	heart
12	chr9:71978800-71991600	Weak transcription	Left Ventricle	heart
13	chr9:71979000-72001800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr9:71980600-71983000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr9:71981000-71984600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr9:71981200-71984600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr9:71981600-71984600	Weak transcription	Fetal Heart	heart
18	chr9:71981800-71982200	Enhancers	H9 Cell Line	embryonic stem cell
19	chr9:71982000-71982200	ZNF genes & repeats	Ovary	ovary
20	chr9:71982200-71985200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr9:71982200-71986400	Weak transcription	Ovary	ovary
22	chr9:71983000-71983400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
23	chr9:71983200-71983400	ZNF genes & repeats	Brain Anterior Caudate	brain
24	chr9:71983400-72001800	Weak transcription	Brain Anterior Caudate	brain
25	chr9:71983600-71985200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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