Variant report

Variant	esv3366028
Chromosome Location	chr9:102947446-102973079
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:102963787..102966660-chr9:102967225..102969263,2	K562	blood:
2	chr9:102963195..102965922-chr9:102967763..102971400,3	K562	blood:
3	chr9:102966427..102968883-chr9:103006907..103008626,2	K562	blood:
4	chr9:102963195..102965922-chr9:102967763..102971400,3	K562	blood:
5	chr9:102953645..102956747-chr9:102963567..102965696,3	K562	blood:
6	chr9:102787308..102789261-chr9:102970002..102972475,2	K562	blood:
7	chr9:102963787..102966660-chr9:102967225..102969263,2	K562	blood:
8	chr9:102953645..102956747-chr9:102963567..102965696,3	K562	blood:

No data

Extended variants
information (count: 825 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:825 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57810186	chr9:102947503-102947504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534219948	chr9:102947542-102947543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374446423	chr9:102947687-102947688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs202151949	chr9:102947747-102947748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146834638	chr9:102947756-102947757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112291288	chr9:102947759-102947760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187025395	chr9:102947771-102947772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370690720	chr9:102947799-102947800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111299503	chr9:102947825-102947826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112012911	chr9:102947828-102947829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs60601873	chr9:102947840-102947841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541488989	chr9:102947947-102947948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556619819	chr9:102947977-102947978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10116798	chr9:102948017-102948018	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs545554059	chr9:102948056-102948057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555799647	chr9:102948081-102948082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189918974	chr9:102948133-102948134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577816377	chr9:102948197-102948198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540058527	chr9:102948201-102948202	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs567635124	chr9:102948283-102948284	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs368782474	chr9:102948331-102948332	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs538356797	chr9:102948350-102948351	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs560360768	chr9:102948433-102948434	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs13301295	chr9:102948468-102948469	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs58669459	chr9:102948480-102948481	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs562178746	chr9:102948493-102948494	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs373746402	chr9:102948527-102948528	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs578017509	chr9:102948616-102948617	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs531294163	chr9:102948618-102948619	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs539660505	chr9:102948643-102948644	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs7047728	chr9:102948666-102948667	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs6479003	chr9:102948685-102948686	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs527844012	chr9:102948727-102948728	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs572346324	chr9:102948738-102948739	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs547690828	chr9:102948795-102948796	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs567922451	chr9:102948852-102948853	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs536977006	chr9:102948858-102948859	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs539774476	chr9:102948860-102948861	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs556585541	chr9:102948869-102948870	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs540109593	chr9:102948911-102948912	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs557769112	chr9:102949009-102949010	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs561327746	chr9:102949056-102949057	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs539133354	chr9:102949140-102949141	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs558963998	chr9:102949192-102949193	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs10989004	chr9:102949220-102949221	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs540393606	chr9:102949270-102949271	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs7859492	chr9:102949286-102949287	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs573583511	chr9:102949287-102949288	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs561968530	chr9:102949297-102949298	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs180771585	chr9:102949321-102949322	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
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
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
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102935400-102952000	Weak transcription	Small Intestine	intestine
2	chr9:102936400-102952600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:102937800-102952000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:102938400-102950600	Weak transcription	Liver	Liver
5	chr9:102939600-102950800	Weak transcription	Ovary	ovary
6	chr9:102940200-102952000	Weak transcription	Pancreas	Pancrea
7	chr9:102940200-102959200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:102940400-102959200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr9:102940400-102978000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:102945800-102948000	Weak transcription	Primary B cells from cord blood	blood
11	chr9:102945800-102952000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr9:102948000-102949000	Strong transcription	Primary B cells from cord blood	blood
13	chr9:102948200-102957800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:102948400-102952000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:102949000-102952000	Weak transcription	Primary B cells from cord blood	blood
16	chr9:102951800-102952000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr9:102952000-102952200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr9:102952000-102952400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr9:102952000-102952400	ZNF genes & repeats	Pancreas	Pancrea
20	chr9:102952000-102952400	ZNF genes & repeats	Small Intestine	intestine
21	chr9:102952000-102954000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:102952000-102954600	ZNF genes & repeats	Primary B cells from cord blood	blood
23	chr9:102952200-102953200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
24	chr9:102952200-102953600	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr9:102952400-102952800	ZNF genes & repeats	A549	lung
26	chr9:102952400-102954600	ZNF genes & repeats	Fetal Lung	lung
27	chr9:102952400-102963400	Weak transcription	Pancreas	Pancrea
28	chr9:102952600-102953000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr9:102953000-102976800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr9:102953200-102953600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr9:102953600-102957600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr9:102953800-102977600	Weak transcription	Fetal Stomach	stomach
33	chr9:102954000-102956200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr9:102954000-102957200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr9:102954000-102959200	Weak transcription	Liver	Liver
36	chr9:102954200-102954400	ZNF genes & repeats	HSMMtube	muscle
37	chr9:102954200-102954600	ZNF genes & repeats	Aorta	Aorta
38	chr9:102954200-102954600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
39	chr9:102954200-102954600	ZNF genes & repeats	Fetal Heart	heart
40	chr9:102954200-102956400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
41	chr9:102954400-102954800	ZNF genes & repeats	Dnd41	blood
42	chr9:102954600-102955000	Weak transcription	HSMMtube	muscle
43	chr9:102954600-102955800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr9:102954600-102956400	Strong transcription	Fetal Lung	lung
45	chr9:102954600-102957000	Weak transcription	Aorta	Aorta
46	chr9:102954600-102957400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr9:102954600-102958400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr9:102954600-102960400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr9:102954600-102963600	Weak transcription	Fetal Heart	heart
50	chr9:102954600-102966600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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