Variant report

Variant	nsv614961
Chromosome Location	chr9:103895161-103923185
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	chr9:103920536..103923320-chr9:103923365..103926057,2	K562	blood:
2	chr17:57915218..57916766-chr9:103922106..103924083,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000062716	chromatin interactions

Extended variants
information (count: 860 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:860 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10760792	chr9:103895161-103895162	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2987750	chr9:103895202-103895203	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs145859660	chr9:103895274-103895275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567037532	chr9:103895320-103895321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187330525	chr9:103895322-103895323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549453763	chr9:103895329-103895330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149008757	chr9:103895420-103895421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191741183	chr9:103895426-103895427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79018793	chr9:103895431-103895432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75961723	chr9:103895443-103895444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570682839	chr9:103895566-103895567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539704603	chr9:103895567-103895568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552909049	chr9:103895574-103895575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111852822	chr9:103895589-103895590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17490	chr9:103895606-103895607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs541526948	chr9:103895667-103895668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555002790	chr9:103895668-103895669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10512278	chr9:103895730-103895731	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs72741436	chr9:103895748-103895749	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs182521336	chr9:103895756-103895757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564085600	chr9:103895779-103895780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140621055	chr9:103895832-103895833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556311828	chr9:103895856-103895857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540886060	chr9:103895887-103895888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560525066	chr9:103895905-103895906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566744939	chr9:103895943-103895944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188668497	chr9:103895946-103895947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192845008	chr9:103895975-103895976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72320208	chr9:103895977-103895978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs59755530	chr9:103895981-103895982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558606097	chr9:103895989-103895990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185748216	chr9:103896006-103896007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576564092	chr9:103896025-103896026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551834839	chr9:103896061-103896062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190320726	chr9:103896085-103896086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191468321	chr9:103896092-103896093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372454172	chr9:103896105-103896106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553184150	chr9:103896116-103896117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377326093	chr9:103896137-103896138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576331493	chr9:103896162-103896163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555139260	chr9:103896177-103896178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143432694	chr9:103896225-103896226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543886280	chr9:103896233-103896234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs57409431	chr9:103896285-103896286	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs183593011	chr9:103896310-103896311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs58088765	chr9:103896312-103896313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs187994501	chr9:103896314-103896315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117938795	chr9:103896317-103896318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376455399	chr9:103896367-103896368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543275539	chr9:103896370-103896371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Neuroblastoma	20406844	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:103877600-103901600	Weak transcription	Fetal Brain Male	brain
2	chr9:103893800-103897600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr9:103893800-103897800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr9:103894000-103897200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr9:103894200-103895200	Enhancers	Fetal Heart	heart
6	chr9:103894200-103897600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr9:103894600-103897000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:103897000-103898800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:103897200-103899000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr9:103897400-103899000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr9:103897600-103898400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr9:103897600-103899000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr9:103897800-103898200	Enhancers	H9 Cell Line	embryonic stem cell
14	chr9:103897800-103898400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:103897800-103898400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:103897800-103898400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr9:103897800-103899000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr9:103897800-103899000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr9:103898400-103898600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:103898600-103898800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:103898800-103899000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:103899000-103899400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr9:103899000-103904400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr9:103900600-103900800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:103900800-103902000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr9:103901400-103902200	Enhancers	Fetal Brain Female	brain
27	chr9:103901600-103902600	Enhancers	Fetal Brain Male	brain
28	chr9:103902200-103902600	Weak transcription	Fetal Brain Female	brain
29	chr9:103902600-103903200	Enhancers	Fetal Brain Female	brain
30	chr9:103902800-103903400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr9:103904200-103905200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:103904400-103905200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr9:103904400-103909000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr9:103904800-103905200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr9:103904800-103909000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr9:103905200-103909800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr9:103905200-103910000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr9:103905200-103910200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:103909000-103911000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr9:103909000-103911200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr9:103909000-103911200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr9:103909000-103911400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr9:103909600-103911200	Enhancers	H1 Cell Line	embryonic stem cell
44	chr9:103909600-103911200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr9:103909800-103910800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr9:103909800-103910800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr9:103909800-103911200	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr9:103910000-103910600	Enhancers	H9 Cell Line	embryonic stem cell
49	chr9:103910000-103910600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr9:103910000-103910800	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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