Variant report

Variant	esv1810420
Chromosome Location	chr9:71883224-71903309
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:71887365..71889715-chr9:71890239..71892748,2	K562	blood:
2	chr9:71877776..71879849-chr9:71881788..71883583,2	MCF-7	breast:
3	chr9:71893881..71896810-chr9:71896857..71898912,2	MCF-7	breast:
4	chr9:71893881..71896810-chr9:71896857..71898912,2	MCF-7	breast:
5	chr9:71887365..71889715-chr9:71890239..71892748,2	K562	blood:
6	chr9:71902826..71905528-chr9:71906383..71908994,3	MCF-7	breast:

Extended variants
information (count: 744 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:744 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1538579	chr9:71883224-71883225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548553116	chr9:71883245-71883246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570287312	chr9:71883251-71883252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531213157	chr9:71883254-71883255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35567900	chr9:71883282-71883283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76390348	chr9:71883291-71883292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113647000	chr9:71883292-71883293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139525360	chr9:71883403-71883404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534844018	chr9:71883407-71883408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1538580	chr9:71883454-71883455	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs373652496	chr9:71883482-71883483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199549915	chr9:71883515-71883516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140151978	chr9:71883516-71883517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72612949	chr9:71883517-71883518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs80030021	chr9:71883518-71883519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72711260	chr9:71883519-71883520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201596631	chr9:71883529-71883530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73452952	chr9:71883555-71883556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs556897440	chr9:71883600-71883601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575105627	chr9:71883629-71883630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546131351	chr9:71883636-71883637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552276777	chr9:71883638-71883639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192394988	chr9:71883645-71883646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148921744	chr9:71883648-71883649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534551888	chr9:71883675-71883676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182958676	chr9:71883691-71883692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377026901	chr9:71883727-71883728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539511157	chr9:71883760-71883761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559631062	chr9:71883794-71883795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530193947	chr9:71883835-71883836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541885375	chr9:71883847-71883848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542011202	chr9:71883862-71883863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371421850	chr9:71883870-71883871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563722568	chr9:71883882-71883883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556621596	chr9:71883910-71883911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79411358	chr9:71883911-71883912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552454575	chr9:71883912-71883913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35106994	chr9:71883922-71883923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548356343	chr9:71883962-71883963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564437792	chr9:71883965-71883966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188709805	chr9:71883996-71883997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367789039	chr9:71884040-71884041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568093417	chr9:71884044-71884045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs193292360	chr9:71884120-71884121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12353081	chr9:71884125-71884126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs184364099	chr9:71884128-71884129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565102270	chr9:71884149-71884150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537309971	chr9:71884220-71884221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73452954	chr9:71884233-71884234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs573163281	chr9:71884234-71884235	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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71869400-71887200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:71872400-71883600	Weak transcription	Lung	lung
3	chr9:71873000-71888400	Weak transcription	Right Atrium	heart
4	chr9:71879800-71888400	Weak transcription	Left Ventricle	heart
5	chr9:71881600-71888400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:71886600-71889000	Enhancers	Stomach Smooth Muscle	stomach
7	chr9:71886800-71888400	Enhancers	Fetal Heart	heart
8	chr9:71887000-71887400	Enhancers	Psoas Muscle	Psoas
9	chr9:71887000-71887400	Enhancers	Right Ventricle	heart
10	chr9:71887000-71888000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr9:71887000-71888400	Enhancers	GM12878-XiMat	blood
12	chr9:71887000-71889200	Enhancers	Fetal Muscle Leg	muscle
13	chr9:71887200-71887400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr9:71887200-71888400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr9:71887400-71888600	Weak transcription	Psoas Muscle	Psoas
16	chr9:71887800-71888600	Enhancers	Rectal Smooth Muscle	rectum
17	chr9:71888000-71888200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr9:71888200-71888400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr9:71888200-71888600	Enhancers	HSMMtube	muscle
20	chr9:71888200-71888800	Enhancers	Fetal Stomach	stomach
21	chr9:71888400-71888600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:71888400-71888600	Enhancers	Right Atrium	heart
23	chr9:71888400-71888600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr9:71888400-71888600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr9:71888400-71889200	Enhancers	Left Ventricle	heart
26	chr9:71888400-71889400	Flanking Active TSS	Fetal Heart	heart
27	chr9:71888600-71888800	Weak transcription	Right Atrium	heart
28	chr9:71888600-71889200	Enhancers	Psoas Muscle	Psoas
29	chr9:71888600-71889200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr9:71888600-71889400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr9:71888800-71889200	Enhancers	Right Atrium	heart
32	chr9:71889200-71890600	Weak transcription	Right Atrium	heart
33	chr9:71889200-71891000	Weak transcription	Left Ventricle	heart
34	chr9:71889200-71891800	Weak transcription	Psoas Muscle	Psoas
35	chr9:71889400-71889600	Enhancers	Fetal Heart	heart
36	chr9:71889600-71890000	Weak transcription	Fetal Heart	heart
37	chr9:71890000-71892000	Enhancers	Fetal Heart	heart
38	chr9:71890200-71892200	Enhancers	Adipose Nuclei	Adipose
39	chr9:71890600-71891200	Enhancers	Right Atrium	heart
40	chr9:71891000-71891200	Enhancers	Left Ventricle	heart
41	chr9:71891000-71891200	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr9:71891200-71891600	Weak transcription	Left Ventricle	heart
43	chr9:71891200-71891800	Enhancers	Fetal Lung	lung
44	chr9:71891200-71891800	Enhancers	NHDF-Ad	bronchial
45	chr9:71891200-71892400	Weak transcription	Right Atrium	heart
46	chr9:71891600-71892000	Enhancers	Left Ventricle	heart
47	chr9:71892000-71894200	Weak transcription	Fetal Heart	heart
48	chr9:71892400-71892600	Enhancers	Right Atrium	heart
49	chr9:71893400-71894200	ZNF genes & repeats	GM12878-XiMat	blood
50	chr9:71894000-71894400	Enhancers	H1 Cell Line	embryonic stem cell

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