Variant report

Variant	esv989098
Chromosome Location	chr9:101509791-101510505
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:101510269..101512280-chr9:101537348..101539564,2	K562	blood:
2	chr9:101501349..101503296-chr9:101510438..101513224,2	K562	blood:
3	chr9:101510163..101513156-chr9:101515125..101518674,3	MCF-7	breast:
4	chr9:101497809..101499341-chr9:101508777..101510382,2	MCF-7	breast:
5	chr9:101510479..101512974-chr9:101514455..101517851,3	K562	blood:
6	chr9:101503154..101505229-chr9:101508014..101510177,2	K562	blood:
7	chr9:101506100..101507722-chr9:101508946..101511685,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376020691	chr9:101509805-101509806	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189572174	chr9:101509818-101509819	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563361961	chr9:101509857-101509858	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371224643	chr9:101509881-101509882	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141332755	chr9:101509989-101509990	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528956225	chr9:101510058-101510059	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10739690	chr9:101510074-101510075	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs143774197	chr9:101510094-101510095	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563788109	chr9:101510095-101510096	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72733205	chr9:101510199-101510200	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs374466114	chr9:101510211-101510212	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs182264513	chr9:101510256-101510257	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs146830251	chr9:101510282-101510283	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs530811613	chr9:101510299-101510300	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs550704145	chr9:101510320-101510321	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs7037347	chr9:101510322-101510323	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs533437220	chr9:101510342-101510343	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs546893917	chr9:101510367-101510368	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs186915497	chr9:101510381-101510382	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs535797739	chr9:101510385-101510386	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs556090055	chr9:101510425-101510426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568101102	chr9:101510429-101510430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77318086	chr9:101510434-101510435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Bipolar disorder	18458673	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Esophageal cancer	21851588	CNVD
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101486400-101513000	Weak transcription	Right Atrium	heart
2	chr9:101489800-101520800	Weak transcription	Fetal Brain Male	brain
3	chr9:101491000-101518000	Weak transcription	Thymus	Thymus
4	chr9:101494000-101532600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr9:101494000-101535200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr9:101494200-101516800	Weak transcription	Psoas Muscle	Psoas
7	chr9:101494400-101553000	Weak transcription	Fetal Heart	heart
8	chr9:101494600-101520800	Weak transcription	Fetal Kidney	kidney
9	chr9:101496600-101549400	Weak transcription	Small Intestine	intestine
10	chr9:101497600-101518000	Weak transcription	Primary B cells from cord blood	blood
11	chr9:101498600-101510200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr9:101498600-101511600	Weak transcription	HSMMtube	muscle
13	chr9:101498800-101517400	Weak transcription	Colonic Mucosa	Colon
14	chr9:101498800-101529200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr9:101499000-101514200	Weak transcription	Right Ventricle	heart
16	chr9:101499000-101516000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr9:101499200-101529800	Weak transcription	Placenta	Placenta
18	chr9:101501800-101515400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:101502000-101510800	Weak transcription	Brain Anterior Caudate	brain
20	chr9:101502000-101519000	Strong transcription	Fetal Intestine Small	intestine
21	chr9:101502200-101519600	Strong transcription	Fetal Stomach	stomach
22	chr9:101503000-101537400	Weak transcription	HUVEC	blood vessel
23	chr9:101504200-101520200	Strong transcription	Fetal Intestine Large	intestine
24	chr9:101504400-101520600	Strong transcription	Fetal Muscle Leg	muscle
25	chr9:101504400-101523400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr9:101504800-101512200	Strong transcription	Lung	lung
27	chr9:101505000-101510400	Weak transcription	NHEK	skin
28	chr9:101505000-101515000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr9:101505000-101515200	Weak transcription	Osteobl	bone
30	chr9:101505000-101515400	Strong transcription	Gastric	stomach
31	chr9:101505000-101516000	Weak transcription	NH-A	brain
32	chr9:101505000-101520400	Strong transcription	Fetal Muscle Trunk	muscle
33	chr9:101505000-101520800	Weak transcription	HMEC	breast
34	chr9:101505200-101515200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr9:101505400-101510800	Weak transcription	HSMM	muscle
36	chr9:101505800-101509800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr9:101505800-101512800	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr9:101505800-101519000	Strong transcription	Adipose Nuclei	Adipose
39	chr9:101506000-101509800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr9:101506200-101510000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr9:101506200-101519000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr9:101506200-101519800	Strong transcription	Stomach Smooth Muscle	stomach
43	chr9:101506200-101527000	Weak transcription	NHDF-Ad	bronchial
44	chr9:101506400-101510200	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr9:101506400-101519200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr9:101506600-101510000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr9:101506600-101529200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr9:101506800-101519600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr9:101506800-101553400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr9:101507000-101511200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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