Variant report

Variant	nsv982194
Chromosome Location	chr9:6835046-6838611
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	chr9:6831771..6833427-chr9:6836426..6839172,2	K562	blood:
2	chr9:6826110..6829506-chr9:6834474..6836178,3	MCF-7	breast:

Extended variants
information (count: 199 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:199 , 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	rs368082361	chr9:6835059-6835060	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs13299146	chr9:6835060-6835061	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs564053640	chr9:6835086-6835087	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs576114385	chr9:6835103-6835104	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs144477509	chr9:6835115-6835116	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs561781068	chr9:6835119-6835120	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs569922163	chr9:6835126-6835127	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs528971600	chr9:6835135-6835136	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs547547184	chr9:6835148-6835149	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs559367273	chr9:6835149-6835150	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs76760773	chr9:6835182-6835183	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs552064483	chr9:6835198-6835199	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs570368697	chr9:6835207-6835208	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs557807889	chr9:6835219-6835220	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs537392792	chr9:6835260-6835261	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs549548297	chr9:6835270-6835271	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs567798094	chr9:6835300-6835301	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs535096359	chr9:6835332-6835333	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs553074085	chr9:6835349-6835350	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs191141785	chr9:6835358-6835359	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs183101365	chr9:6835404-6835405	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs557581749	chr9:6835407-6835408	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs576279854	chr9:6835412-6835413	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs80104026	chr9:6835416-6835417	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs7030531	chr9:6835419-6835420	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs543390113	chr9:6835431-6835432	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs561905201	chr9:6835447-6835448	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs187987246	chr9:6835463-6835464	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs541098345	chr9:6835479-6835480	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs369585349	chr9:6835489-6835490	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs532910327	chr9:6835499-6835500	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs189597700	chr9:6835512-6835513	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs563178004	chr9:6835545-6835546	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs114184041	chr9:6835546-6835547	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs150798226	chr9:6835579-6835580	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs567822046	chr9:6835606-6835607	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs534905902	chr9:6835621-6835622	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs115037501	chr9:6835638-6835639	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs182246932	chr9:6835641-6835642	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs538791426	chr9:6835653-6835654	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs139676229	chr9:6835748-6835749	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs575584087	chr9:6835797-6835798	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs537330510	chr9:6835845-6835846	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs115669513	chr9:6835862-6835863	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs116136205	chr9:6835906-6835907	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs541231430	chr9:6835912-6835913	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs553252765	chr9:6835915-6835916	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs187694049	chr9:6835925-6835926	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs192605784	chr9:6835928-6835929	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs115243408	chr9:6835936-6835937	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Medullary thyroid carcinoma	18765511	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:217 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6795000-6863800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr9:6795400-6849600	Weak transcription	HMEC	breast
3	chr9:6814600-6845400	Weak transcription	Fetal Brain Male	brain
4	chr9:6815400-6852000	Weak transcription	NHDF-Ad	bronchial
5	chr9:6816000-6856000	Weak transcription	Colon Smooth Muscle	Colon
6	chr9:6818800-6856000	Weak transcription	Psoas Muscle	Psoas
7	chr9:6819800-6853400	Weak transcription	Small Intestine	intestine
8	chr9:6820400-6845200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:6824200-6849200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr9:6824200-6849600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr9:6824200-6860000	Weak transcription	Hela-S3	cervix
12	chr9:6824400-6892000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr9:6825400-6849800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr9:6826400-6841600	Weak transcription	NH-A	brain
15	chr9:6827800-6842000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr9:6828000-6838200	Weak transcription	Fetal Lung	lung
17	chr9:6828000-6846000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr9:6829400-6838200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr9:6831800-6849200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr9:6832000-6847400	Weak transcription	HSMMtube	muscle
21	chr9:6832000-6852800	Weak transcription	K562	blood
22	chr9:6833400-6835400	Strong transcription	GM12878-XiMat	blood
23	chr9:6833400-6835600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
24	chr9:6833400-6835600	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr9:6833400-6835600	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr9:6833400-6835800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr9:6833400-6835800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr9:6833400-6836600	Strong transcription	Primary B cells from peripheral blood	blood
29	chr9:6833600-6835600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr9:6833600-6835600	Strong transcription	Dnd41	blood
31	chr9:6833600-6836000	Strong transcription	Primary B cells from cord blood	blood
32	chr9:6833800-6841400	Weak transcription	Osteobl	bone
33	chr9:6834000-6835400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr9:6834000-6838000	Weak transcription	Fetal Heart	heart
35	chr9:6834000-6854800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr9:6834200-6835400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
37	chr9:6834200-6835400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
38	chr9:6834200-6835400	Strong transcription	Brain Hippocampus Middle	brain
39	chr9:6834200-6835400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr9:6834200-6835600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr9:6834200-6835600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr9:6834200-6835600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr9:6834200-6835600	ZNF genes & repeats	Adipose Nuclei	Adipose
44	chr9:6834200-6835600	Strong transcription	Esophagus	oesophagus
45	chr9:6834200-6835600	Strong transcription	Gastric	stomach
46	chr9:6834200-6835600	ZNF genes & repeats	Lung	lung
47	chr9:6834200-6835600	Strong transcription	Pancreas	Pancrea
48	chr9:6834200-6835600	Strong transcription	NHEK	skin
49	chr9:6834200-6835800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr9:6834200-6835800	Strong transcription	Fetal Thymus	thymus

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