Variant report

Variant	esv13422
Chromosome Location	chr8:35666429-35680427
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:73158515..73160568-chr8:35679569..35681069,2	K562	blood:
2	chr17:41464397..41466335-chr8:35678069..35679588,3	K562	blood:
3	chr17:41401117..41402640-chr8:35678068..35679569,2	K562	blood:
4	chr17:41400768..41402617-chr8:35678068..35679569,3	K562	blood:
5	chr3:73159093..73162068-chr8:35678068..35679569,2	MCF-7	breast:
6	chr17:41398363..41402584-chr8:35679569..35681089,3	K562	blood:
7	chr17:41380631..41382205-chr8:35678068..35679588,2	MCF-7	breast:
8	chr17:41463858..41466219-chr8:35678069..35679569,3	K562	blood:
9	chr17:41399296..41402359-chr8:35678068..35681088,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236383	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000223247	chromatin interactions

Extended variants
information (count: 162 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535802613	chr8:35666430-35666431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557094264	chr8:35666451-35666452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575620175	chr8:35666453-35666454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141404117	chr8:35666464-35666465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs578072537	chr8:35666491-35666492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187034534	chr8:35666538-35666539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573468827	chr8:35666556-35666557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540832665	chr8:35666566-35666567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562327473	chr8:35666597-35666598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190658145	chr8:35666602-35666603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544165110	chr8:35666623-35666624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183202321	chr8:35666635-35666636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374076806	chr8:35666686-35666687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139588749	chr8:35666792-35666793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551053532	chr8:35666794-35666795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559861942	chr8:35666808-35666809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371773155	chr8:35666854-35666855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527439994	chr8:35666883-35666884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548778610	chr8:35666919-35666920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371057414	chr8:35666935-35666936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567520024	chr8:35666958-35666959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537775117	chr8:35666959-35666960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184913981	chr8:35672409-35672410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368879789	chr8:35672497-35672498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542067290	chr8:35672504-35672505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539331276	chr8:35672853-35672854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs543113908	chr8:35672870-35672871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs376091612	chr8:35672872-35672873	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs576823062	chr8:35672896-35672897	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs142825662	chr8:35672982-35672983	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs530599166	chr8:35672993-35672994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs553392312	chr8:35673001-35673002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs574853429	chr8:35673002-35673003	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs542382072	chr8:35673017-35673018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs563710818	chr8:35673019-35673020	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs575946791	chr8:35673042-35673043	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs546513351	chr8:35673055-35673056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs80092697	chr8:35673127-35673128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs528048907	chr8:35673149-35673150	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs546291242	chr8:35673158-35673159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs373584631	chr8:35673174-35673175	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs144282096	chr8:35673236-35673237	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs528958079	chr8:35673254-35673255	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs181305358	chr8:35673351-35673352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs112542812	chr8:35673359-35673360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs60775964	chr8:35673380-35673381	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs539295061	chr8:35673428-35673429	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs528098554	chr8:35673438-35673439	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs140138587	chr8:35673439-35673440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs551213860	chr8:35673482-35673483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Multiple myeloma	16616336	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	20459607	CNVD
Renal cell carcinoma	18765545	CNVD
Colorectal cancer	16912164	CNVD
Neuroticism	17667963	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	18382360	CNVD
Ductal carcinoma	18381933	CNVD
Breast cancer	21328542	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Intellectual disability	22045946	CNVD
Lung cancer	17925434	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21785460	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35666400-35666800	Enhancers	Fetal Muscle Trunk	muscle
2	chr8:35666400-35667000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:35666400-35667000	Enhancers	Stomach Mucosa	stomach
4	chr8:35666600-35667000	Enhancers	Pancreas	Pancrea
5	chr8:35672400-35672600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:35672800-35674000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:35674000-35674400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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