Variant report

Variant	esv2576011
Chromosome Location	chr9:102821920-102823300
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:102821199..102823384-chr9:102825604..102827589,3	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528135897	chr9:102821936-102821937	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs529198318	chr9:102821991-102821992	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs78491924	chr9:102822002-102822003	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs148090634	chr9:102822004-102822005	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs183205836	chr9:102822069-102822070	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs550862883	chr9:102822110-102822111	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs570734199	chr9:102822117-102822118	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs141833003	chr9:102822119-102822120	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs150806137	chr9:102822136-102822137	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs566525067	chr9:102822161-102822162	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs535483873	chr9:102822197-102822198	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs112056605	chr9:102822230-102822231	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs138203349	chr9:102822242-102822243	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs569217543	chr9:102822270-102822271	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs538356466	chr9:102822271-102822272	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs556828991	chr9:102822307-102822308	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs577119057	chr9:102822316-102822317	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs112603805	chr9:102822324-102822325	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs199505454	chr9:102822369-102822370	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs201827335	chr9:102822373-102822374	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs368653588	chr9:102822382-102822383	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs200649927	chr9:102822389-102822390	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs138512849	chr9:102822438-102822439	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541497512	chr9:102822439-102822440	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200106241	chr9:102822475-102822476	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543850121	chr9:102822507-102822508	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530494744	chr9:102822556-102822557	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544300116	chr9:102822561-102822562	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555829916	chr9:102822591-102822592	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564301140	chr9:102822615-102822616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550555504	chr9:102822654-102822655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574433817	chr9:102822662-102822663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546866128	chr9:102822692-102822693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367921246	chr9:102822764-102822765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192918520	chr9:102822855-102822856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529605107	chr9:102822860-102822861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143673811	chr9:102822898-102822899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569235778	chr9:102822966-102822967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183510184	chr9:102822991-102822992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558327536	chr9:102823113-102823114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147195172	chr9:102823166-102823167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539676618	chr9:102823179-102823180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140457431	chr9:102823256-102823257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541562903	chr9:102823265-102823266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573140813	chr9:102823299-102823300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102729600-102826800	Weak transcription	HMEC	breast
2	chr9:102767600-102826400	Weak transcription	Small Intestine	intestine
3	chr9:102767600-102845600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:102767800-102830000	Weak transcription	HSMMtube	muscle
5	chr9:102767800-102835600	Weak transcription	Brain Hippocampus Middle	brain
6	chr9:102788600-102825600	Weak transcription	A549	lung
7	chr9:102796400-102826000	Weak transcription	Colon Smooth Muscle	Colon
8	chr9:102796400-102828800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr9:102797400-102827800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr9:102800000-102828800	Weak transcription	Aorta	Aorta
11	chr9:102800000-102828800	Weak transcription	Gastric	stomach
12	chr9:102800000-102828800	Weak transcription	Pancreas	Pancrea
13	chr9:102800000-102828800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr9:102800000-102860200	Weak transcription	Esophagus	oesophagus
15	chr9:102800200-102828800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr9:102800200-102836400	Weak transcription	Fetal Stomach	stomach
17	chr9:102802400-102829000	Weak transcription	Psoas Muscle	Psoas
18	chr9:102804000-102826000	Weak transcription	NHDF-Ad	bronchial
19	chr9:102805400-102844800	Weak transcription	Thymus	Thymus
20	chr9:102806000-102825600	Weak transcription	NHLF	lung
21	chr9:102806400-102823200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr9:102807400-102844800	Weak transcription	Fetal Brain Male	brain
23	chr9:102808200-102825400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr9:102809600-102825000	Weak transcription	Fetal Kidney	kidney
25	chr9:102809600-102828600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr9:102809600-102828600	Weak transcription	Brain Substantia Nigra	brain
27	chr9:102809800-102845600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr9:102810000-102839200	Weak transcription	Fetal Muscle Leg	muscle
29	chr9:102810400-102825400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr9:102810800-102845400	Weak transcription	Fetal Brain Female	brain
31	chr9:102811600-102825400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr9:102811800-102823400	Weak transcription	Lung	lung
33	chr9:102812600-102826800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr9:102813800-102823600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr9:102813800-102828400	Weak transcription	Brain Angular Gyrus	brain
36	chr9:102814000-102825400	Weak transcription	HUVEC	blood vessel
37	chr9:102814000-102826800	Weak transcription	NHEK	skin
38	chr9:102814000-102828400	Weak transcription	Brain Anterior Caudate	brain
39	chr9:102814000-102829000	Weak transcription	Left Ventricle	heart
40	chr9:102814200-102829200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr9:102814200-102842400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr9:102814200-102842600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr9:102814400-102823000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr9:102814400-102825600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr9:102814600-102825400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr9:102814600-102828600	Weak transcription	Adipose Nuclei	Adipose
47	chr9:102814600-102834200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr9:102814800-102825400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr9:102814800-102825400	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr9:102814800-102825600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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