Variant report

Variant	nsv1023524
Chromosome Location	chr9:9496356-9666553
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:9539103..9541014-chr9:9543806..9546014,2	K562	blood:
2	chr9:9606507..9607603-chr9:9789935..9790958,7	MCF-7	breast:
3	chr9:9639781..9641559-chr9:9642274..9644789,2	MCF-7	breast:
4	chr9:9606480..9607195-chr9:9789919..9790916,3	MCF-7	breast:
5	chr9:9539103..9541014-chr9:9543806..9546014,2	K562	blood:
6	chr9:9606153..9607209-chr9:9791346..9792141,4	MCF-7	breast:
7	chr9:9606591..9607143-chr9:9791328..9791942,2	MCF-7	breast:
8	chr9:9639781..9641559-chr9:9642274..9644789,2	MCF-7	breast:

Extended variants
information (count: 4063 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:4063 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187797803	chr9:9497600-9497601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35233055	chr9:9497608-9497609	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs369792551	chr9:9497626-9497627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551937684	chr9:9497642-9497643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563749796	chr9:9497689-9497690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192425656	chr9:9497731-9497732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549073456	chr9:9497753-9497754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557543912	chr9:9497761-9497762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184862522	chr9:9497856-9497857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550610420	chr9:9497857-9497858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148897023	chr9:9497871-9497872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571143298	chr9:9497872-9497873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538426652	chr9:9497909-9497910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79347384	chr9:9497913-9497914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188694219	chr9:9497923-9497924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576620987	chr9:9497943-9497944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536257009	chr9:9497971-9497972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377732673	chr9:9497986-9497987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79283773	chr9:9498018-9498019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191917933	chr9:9498066-9498067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541399267	chr9:9498162-9498163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117589065	chr9:9498171-9498172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs578231476	chr9:9498179-9498180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535871766	chr9:9498215-9498216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555775488	chr9:9498227-9498228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545589063	chr9:9498255-9498256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184342427	chr9:9498295-9498296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530868181	chr9:9498300-9498301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543010239	chr9:9498387-9498388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543597901	chr9:9498404-9498405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10759079	chr9:9498412-9498413	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs528472471	chr9:9498415-9498416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189214699	chr9:9498439-9498440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546519135	chr9:9498452-9498453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571181961	chr9:9498503-9498504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112447245	chr9:9498583-9498584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572244621	chr9:9498596-9498597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535120726	chr9:9498608-9498609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10120367	chr9:9498612-9498613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113177901	chr9:9498656-9498657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143632492	chr9:9498675-9498676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536006491	chr9:9498698-9498699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554638097	chr9:9498718-9498719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566376625	chr9:9498749-9498750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77588795	chr9:9498752-9498753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553723518	chr9:9498754-9498755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs578117480	chr9:9498788-9498789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs578241097	chr9:9498791-9498792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545626027	chr9:9498796-9498797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557542390	chr9:9498816-9498817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	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
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	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
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
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Autism	20531469	CNVD
Lung adenocarcinoma	17982442	CNVD
Gastric cancer	22315472	CNVD

Chromatin state (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9497600-9498600	Enhancers	Fetal Lung	lung
2	chr9:9497800-9498400	Enhancers	Brain Cingulate Gyrus	brain
3	chr9:9498000-9498400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr9:9498000-9498400	Enhancers	Brain Substantia Nigra	brain
5	chr9:9498200-9498400	Enhancers	Brain Anterior Caudate	brain
6	chr9:9498200-9498800	Enhancers	Brain Hippocampus Middle	brain
7	chr9:9498400-9499000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:9498400-9499400	Weak transcription	Brain Substantia Nigra	brain
9	chr9:9498400-9500200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr9:9498600-9499800	Weak transcription	Brain Anterior Caudate	brain
11	chr9:9498600-9502200	Weak transcription	Fetal Lung	lung
12	chr9:9498800-9500000	Weak transcription	Brain Hippocampus Middle	brain
13	chr9:9499800-9500000	Enhancers	Brain Substantia Nigra	brain
14	chr9:9499800-9500600	Enhancers	Brain Anterior Caudate	brain
15	chr9:9500000-9500400	Enhancers	Brain Hippocampus Middle	brain
16	chr9:9501400-9508800	Weak transcription	Fetal Brain Male	brain
17	chr9:9502200-9503000	Enhancers	Fetal Lung	lung
18	chr9:9508800-9509000	Active TSS	Fetal Brain Male	brain
19	chr9:9514000-9514400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr9:9514000-9514400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr9:9514000-9514600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr9:9514400-9514800	Enhancers	Fetal Heart	heart
23	chr9:9514400-9518200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr9:9514400-9519200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr9:9514600-9520400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr9:9518200-9518800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr9:9518600-9518800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr9:9518800-9520400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr9:9518800-9520400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:9519200-9519800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr9:9519800-9520200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr9:9520200-9524000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr9:9520400-9522000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr9:9520400-9522400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr9:9520400-9524200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr9:9520600-9522000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr9:9520600-9522200	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr9:9520600-9524000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr9:9520800-9521000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr9:9520800-9521600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr9:9520800-9522000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr9:9520800-9523800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr9:9521000-9521200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:9521000-9521400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr9:9521000-9521400	Enhancers	Fetal Kidney	kidney
46	chr9:9521000-9521600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr9:9521200-9521400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr9:9521200-9521600	Enhancers	H9 Cell Line	embryonic stem cell
49	chr9:9521200-9521600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr9:9521400-9521600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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