Variant report

Variant	nsv523562
Chromosome Location	chr9:93791410-93800017
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:93790414..93792633-chr9:93793039..93796197,3	MCF-7	breast:
2	chr9:93797668..93803133-chr9:94183972..94188624,9	MCF-7	breast:
3	chr9:93798950..93801192-chr9:94180213..94183169,2	MCF-7	breast:
4	chr9:93790414..93792633-chr9:93793039..93796197,3	MCF-7	breast:
5	chr9:93798149..93802099-chr9:94185060..94188043,3	K562	blood:
6	chr9:93747626..93749444-chr9:93797575..93800020,2	MCF-7	breast:
7	chr9:93786992..93789003-chr9:93797212..93799731,2	MCF-7	breast:
8	chr9:93799782..93801478-chr9:93805861..93808673,2	MCF-7	breast:
9	chr9:93798149..93801072-chr9:94184955..94188043,3	K562	blood:
10	chr9:93677265..93679731-chr9:93797817..93800776,2	MCF-7	breast:
11	chr9:93744053..93746493-chr9:93797661..93799337,2	K562	blood:
12	chr9:93798539..93802041-chr9:94184980..94187268,5	MCF-7	breast:
13	chr9:93799113..93799705-chr9:94187764..94188556,2	MCF-7	breast:
14	chr9:93797970..93799747-chr9:93818400..93820922,2	MCF-7	breast:
15	chr9:93795748..93796306-chr9:94195154..94195880,2	K562	blood:
16	chr9:93797874..93801408-chr9:93805945..93809060,4	MCF-7	breast:
17	chr9:93752160..93754281-chr9:93798521..93801349,2	MCF-7	breast:
18	chr9:93791432..93793743-chr9:93809609..93811787,2	MCF-7	breast:
19	chr9:93794505..93796319-chr9:94184309..94186910,2	MCF-7	breast:
20	chr9:93799032..93800018-chr9:94188281..94189014,4	MCF-7	breast:
21	chr9:93799539..93800255-chr9:102860956..102861497,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000023318	chromatin interactions
ENSG00000165030	chromatin interactions
ENSG00000233081	chromatin interactions

Extended variants
information (count: 371 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10121342	chr9:93791410-93791411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185802212	chr9:93791425-93791426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569001916	chr9:93791434-93791435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150559055	chr9:93791458-93791459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528466909	chr9:93791474-93791475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545139128	chr9:93791532-93791533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2126050	chr9:93791585-93791586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531431388	chr9:93791587-93791588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548249590	chr9:93791601-93791602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567973993	chr9:93791602-93791603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533737703	chr9:93791623-93791624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2126049	chr9:93791649-93791650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372140652	chr9:93791651-93791652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2126048	chr9:93791654-93791655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111997039	chr9:93791686-93791687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538883992	chr9:93791694-93791695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558719803	chr9:93791695-93791696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2126047	chr9:93791720-93791721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375949278	chr9:93791810-93791811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189778151	chr9:93791883-93791884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537957198	chr9:93791962-93791963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201474198	chr9:93791979-93791980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554999322	chr9:93791986-93791987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35784790	chr9:93792013-93792014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574761129	chr9:93792029-93792030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199836795	chr9:93792037-93792038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113368430	chr9:93792044-93792045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560221729	chr9:93792046-93792047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368708440	chr9:93792048-93792049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577189086	chr9:93792056-93792057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546068169	chr9:93792078-93792079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562664970	chr9:93792081-93792082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531494746	chr9:93792105-93792106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530712792	chr9:93792109-93792110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548310313	chr9:93792123-93792124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368978943	chr9:93792125-93792126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561796024	chr9:93792127-93792128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527307399	chr9:93792166-93792167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547357053	chr9:93792198-93792199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143038580	chr9:93792270-93792271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567095976	chr9:93792305-93792306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs56673572	chr9:93792332-93792333	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs552410923	chr9:93792380-93792381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569110228	chr9:93792388-93792389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538019280	chr9:93792411-93792412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372268514	chr9:93792416-93792417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146167368	chr9:93792426-93792427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533966954	chr9:93792485-93792486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377071328	chr9:93792510-93792511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138807966	chr9:93792512-93792513	Weak transcription Enhancers	n/a	n/a	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
Glioma	17123091	CNVD
Mantle cell lymphoma	19029149	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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:223 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93788600-93794000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:93792200-93793600	Enhancers	Liver	Liver
3	chr9:93793200-93793400	Enhancers	HepG2	liver
4	chr9:93793200-93793600	Enhancers	Hela-S3	cervix
5	chr9:93793400-93796800	Weak transcription	HepG2	liver
6	chr9:93793600-93799400	Weak transcription	Liver	Liver
7	chr9:93794000-93794800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:93794200-93794400	Enhancers	Duodenum Mucosa	Duodenum
9	chr9:93794400-93794800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr9:93794400-93795000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:93794400-93798600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr9:93794800-93798600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:93794800-93799200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:93795000-93795400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:93795400-93796200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:93795600-93795800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr9:93795800-93798800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr9:93796000-93797400	Enhancers	GM12878-XiMat	blood
19	chr9:93796000-93800200	Enhancers	Primary B cells from peripheral blood	blood
20	chr9:93796200-93796400	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr9:93796200-93799000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:93796400-93797000	Enhancers	Spleen	Spleen
23	chr9:93796400-93799200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr9:93796600-93796800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr9:93796600-93797800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr9:93796800-93797000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr9:93796800-93797000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr9:93796800-93798800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr9:93796800-93799200	Enhancers	HepG2	liver
30	chr9:93797000-93797600	Weak transcription	Spleen	Spleen
31	chr9:93797000-93799400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr9:93797200-93798200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr9:93797400-93797800	Flanking Active TSS	GM12878-XiMat	blood
34	chr9:93797400-93798400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr9:93797400-93801200	Enhancers	Placenta	Placenta
36	chr9:93797600-93797800	Enhancers	Spleen	Spleen
37	chr9:93797600-93800400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr9:93797800-93798000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr9:93797800-93799000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr9:93797800-93799200	Weak transcription	Spleen	Spleen
41	chr9:93797800-93799800	Enhancers	GM12878-XiMat	blood
42	chr9:93798200-93798400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr9:93798200-93798400	Enhancers	Fetal Intestine Small	intestine
44	chr9:93798200-93798600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr9:93798200-93798600	Enhancers	Placenta Amnion	Placenta Amnion
46	chr9:93798200-93798600	Enhancers	Stomach Smooth Muscle	stomach
47	chr9:93798200-93799200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr9:93798200-93800000	Enhancers	Dnd41	blood
49	chr9:93798200-93801000	Enhancers	Esophagus	oesophagus
50	chr9:93798400-93799200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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