Variant report

Variant	esv1808133
Chromosome Location	chr9:94559058-94560914
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94559930..94562957-chr9:94564256..94567376,4	K562	blood:
2	chr9:94560025..94562581-chr9:94709584..94711088,2	K562	blood:
3	chr9:94560147..94563596-chr9:94565851..94569196,3	MCF-7	breast:
4	chr9:94547554..94551405-chr9:94555591..94559410,4	K562	blood:

Variant related genes	Relation type
ENSG00000169071	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553667870	chr9:94559070-94559071	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs573453512	chr9:94559073-94559074	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs548019212	chr9:94559113-94559114	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs376726197	chr9:94559133-94559134	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs566121248	chr9:94559143-94559144	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs536979008	chr9:94559161-94559162	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs369611585	chr9:94559178-94559179	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs374261389	chr9:94559188-94559189	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs555316192	chr9:94559242-94559243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112951132	chr9:94559262-94559263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570334187	chr9:94559400-94559401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs55708428	chr9:94559417-94559418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199581047	chr9:94559429-94559430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113304209	chr9:94559449-94559450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112970932	chr9:94559456-94559457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113834317	chr9:94559481-94559482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75957168	chr9:94559483-94559484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201779456	chr9:94559499-94559500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111763438	chr9:94559534-94559535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76537847	chr9:94559565-94559566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75519990	chr9:94559579-94559580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112697205	chr9:94559610-94559611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs56045605	chr9:94559748-94559749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374017719	chr9:94559755-94559756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200165655	chr9:94559757-94559758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375845044	chr9:94559782-94559783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370414962	chr9:94559864-94559865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375365574	chr9:94559878-94559879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112091200	chr9:94559945-94559946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35969472	chr9:94560026-94560027	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs35913641	chr9:94560128-94560129	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs36113660	chr9:94560135-94560136	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs368326729	chr9:94560162-94560163	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs555845387	chr9:94560217-94560218	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs34532103	chr9:94560461-94560462	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs56311438	chr9:94560512-94560513	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs577708295	chr9:94560526-94560527	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs35676619	chr9:94560543-94560544	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs538351648	chr9:94560553-94560554	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs200705788	chr9:94560557-94560558	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs111597085	chr9:94560640-94560641	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs111675755	chr9:94560663-94560664	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs114237636	chr9:94560678-94560679	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs113793450	chr9:94560679-94560680	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs199736851	chr9:94560689-94560690	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs111630991	chr9:94560731-94560732	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs553959293	chr9:94560748-94560749	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs35997310	chr9:94560755-94560756	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs368142411	chr9:94560786-94560787	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs542385774	chr9:94560800-94560801	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Mental retardation	21693067	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
Breast cancer	21364760	CNVD
overgrowth syndrome	16570072	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94553200-94561200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:94555400-94562000	Weak transcription	Right Atrium	heart
3	chr9:94557800-94559200	Enhancers	Stomach Smooth Muscle	stomach
4	chr9:94558000-94559200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr9:94558000-94559200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr9:94558200-94559200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr9:94558400-94560800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr9:94558400-94566400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:94558600-94559200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
10	chr9:94558600-94561000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:94558600-94561000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:94558600-94561000	Weak transcription	Fetal Intestine Large	intestine
13	chr9:94558600-94561400	Weak transcription	Fetal Lung	lung
14	chr9:94558600-94565200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr9:94558800-94560800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr9:94558800-94561000	Weak transcription	Fetal Stomach	stomach
17	chr9:94559000-94559200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr9:94559000-94560600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr9:94559000-94560800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr9:94559000-94560800	Weak transcription	Colonic Mucosa	Colon
21	chr9:94559000-94560800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr9:94559000-94560800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr9:94559000-94560800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr9:94559000-94560800	Weak transcription	K562	blood
25	chr9:94559000-94560800	Weak transcription	NHEK	skin
26	chr9:94559000-94561000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr9:94559000-94561000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr9:94559000-94561000	Weak transcription	Colon Smooth Muscle	Colon
29	chr9:94559000-94561000	Weak transcription	Fetal Intestine Small	intestine
30	chr9:94559000-94561000	Weak transcription	Ovary	ovary
31	chr9:94559000-94561200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr9:94559000-94561200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr9:94559000-94562000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr9:94559200-94560600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr9:94559200-94560600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr9:94559200-94560800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr9:94559200-94560800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr9:94559200-94561000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr9:94559200-94561000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr9:94560600-94560800	Enhancers	Primary T cells fromperipheralblood	blood
41	chr9:94560600-94560800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr9:94560600-94561800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
43	chr9:94560600-94562000	Enhancers	Stomach Mucosa	stomach
44	chr9:94560600-94562200	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr9:94560800-94561000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr9:94560800-94561000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr9:94560800-94561000	Enhancers	Duodenum Mucosa	Duodenum
48	chr9:94560800-94561000	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr9:94560800-94561000	Enhancers	Stomach Smooth Muscle	stomach
50	chr9:94560800-94561000	Enhancers	GM12878-XiMat	blood

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