Variant report

Variant	esv3481864
Chromosome Location	chr9:6888680-6889195
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	chr9:6888137..6890891-chr9:6891909..6894488,2	K562	blood:

Variant related genes	Relation type
ENSG00000107077	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548456681	chr9:6888682-6888683	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs542303296	chr9:6888699-6888700	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs566781138	chr9:6888760-6888761	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs534122057	chr9:6888761-6888762	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs13296543	chr9:6888780-6888781	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs13296544	chr9:6888782-6888783	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs144292564	chr9:6888788-6888789	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs533124931	chr9:6888819-6888820	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs558781610	chr9:6889040-6889041	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs570651020	chr9:6889077-6889078	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs537526352	chr9:6889085-6889086	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs556237334	chr9:6889086-6889087	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs574322391	chr9:6889087-6889088	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs537748902	chr9:6889112-6889113	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs531354559	chr9:6889149-6889150	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs10975872	chr9:6889171-6889172	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs572398378	chr9:6889172-6889173	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs546137988	chr9:6889179-6889180	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs564500682	chr9:6889184-6889185	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6824400-6892000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr9:6835400-6893200	Weak transcription	Colonic Mucosa	Colon
3	chr9:6864600-6889600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr9:6869200-6898000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr9:6869400-6889400	Weak transcription	Adipose Nuclei	Adipose
6	chr9:6869600-6909400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr9:6869800-6889400	Weak transcription	Right Ventricle	heart
8	chr9:6869800-6890000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr9:6869800-6908000	Weak transcription	Fetal Stomach	stomach
10	chr9:6871000-6889400	Weak transcription	Esophagus	oesophagus
11	chr9:6871000-6902200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr9:6871200-6889800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr9:6871200-6896000	Weak transcription	NHEK	skin
14	chr9:6873600-6896800	Weak transcription	Stomach Mucosa	stomach
15	chr9:6874200-6889600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr9:6874200-6893200	Weak transcription	Brain Anterior Caudate	brain
17	chr9:6874200-6902400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr9:6874400-6893200	Weak transcription	Brain Hippocampus Middle	brain
19	chr9:6874400-6896600	Weak transcription	Brain Substantia Nigra	brain
20	chr9:6874800-6889400	Weak transcription	Gastric	stomach
21	chr9:6875000-6889200	Weak transcription	Ovary	ovary
22	chr9:6875000-6902600	Weak transcription	HSMM	muscle
23	chr9:6875400-6889200	Weak transcription	Left Ventricle	heart
24	chr9:6875800-6893400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr9:6876600-6893200	Weak transcription	Thymus	Thymus
26	chr9:6876800-6889400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr9:6876800-6893400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr9:6877800-6896600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr9:6878200-6902400	Weak transcription	NHDF-Ad	bronchial
30	chr9:6878600-6896600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr9:6878600-6897800	Weak transcription	HSMMtube	muscle
32	chr9:6878800-6893600	Weak transcription	HMEC	breast
33	chr9:6879000-6896600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr9:6879200-6889400	Weak transcription	Placenta	Placenta
35	chr9:6879800-6902400	Weak transcription	Osteobl	bone
36	chr9:6880600-6889800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr9:6880800-6893000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr9:6880800-6907000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr9:6881000-6889400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr9:6881000-6889400	Weak transcription	Aorta	Aorta
41	chr9:6881000-6889400	Weak transcription	Pancreas	Pancrea
42	chr9:6881000-6889400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr9:6881000-6889400	Weak transcription	Spleen	Spleen
44	chr9:6881000-6889600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr9:6881200-6892800	Weak transcription	Dnd41	blood
46	chr9:6882800-6912000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr9:6883000-6911800	Weak transcription	Psoas Muscle	Psoas
48	chr9:6883800-6889200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr9:6883800-6889400	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr9:6884000-6897400	Weak transcription	Fetal Kidney	kidney

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