Variant report

Variant	nsv6612
Chromosome Location	chr9:94490644-94535738
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:46)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:94496562..94497107-chr9:94520780..94521483,2	MCF-7	breast:
2	chr9:94495090..94496763-chr9:94772048..94774825,2	K562	blood:
3	chr9:94520495..94521314-chr9:94740802..94741704,2	MCF-7	breast:
4	chr9:94520499..94521292-chr9:94533176..94533953,2	MCF-7	breast:
5	chr9:94527497..94529105-chr9:94533152..94535517,2	K562	blood:
6	chr9:94525390..94528307-chr9:94632326..94635050,2	K562	blood:
7	chr9:94520499..94521292-chr9:94533176..94533953,2	MCF-7	breast:
8	chr9:94490367..94492773-chr9:94495285..94496842,2	MCF-7	breast:
9	chr9:94489892..94493220-chr9:94493878..94496839,3	K562	blood:
10	chr9:94515164..94517727-chr9:94525396..94527024,2	K562	blood:
11	chr9:94497979..94500430-chr9:94500591..94503129,2	K562	blood:
12	chr9:94533140..94534672-chr9:94535673..94537845,2	MCF-7	breast:
13	chr9:94513749..94516669-chr9:94667565..94670057,2	K562	blood:
14	chr9:94490367..94492773-chr9:94495285..94496842,2	MCF-7	breast:
15	chr9:94511870..94513759-chr9:94524409..94527120,2	MCF-7	breast:
16	chr9:94533336..94534896-chr9:94707634..94709527,2	MCF-7	breast:
17	chr9:94533140..94534672-chr9:94535673..94537845,2	MCF-7	breast:
18	chr9:94527497..94529105-chr9:94533152..94535517,2	K562	blood:
19	chr9:94516080..94518691-chr9:94519626..94521518,2	MCF-7	breast:
20	chr9:94512038..94515979-chr9:94518272..94520264,3	K562	blood:
21	chr9:94497499..94499840-chr9:94505365..94508110,2	MCF-7	breast:
22	chr9:94520440..94521332-chr9:94712111..94713033,4	K562	blood:
23	chr9:94511870..94513759-chr9:94524409..94527120,2	MCF-7	breast:
24	chr9:94497499..94499840-chr9:94505365..94508110,2	MCF-7	breast:
25	chr9:94492241..94494566-chr9:94710978..94712504,2	K562	blood:
26	chr9:94516080..94518691-chr9:94519626..94521518,2	MCF-7	breast:
27	chr9:94493263..94495550-chr9:94497375..94499893,2	K562	blood:
28	chr9:94496562..94497107-chr9:94520780..94521483,2	MCF-7	breast:
29	chr9:94508551..94510877-chr9:94514167..94515784,2	MCF-7	breast:
30	chr9:94530728..94533133-chr9:94548212..94550355,2	K562	blood:
31	chr9:94496411..94497072-chr9:94712544..94713048,2	MCF-7	breast:
32	chr9:94493263..94495550-chr9:94497375..94499893,2	K562	blood:
33	chr9:94520719..94521310-chr9:94740804..94741565,4	MCF-7	breast:
34	chr9:94526216..94529153-chr9:94536041..94538904,2	K562	blood:
35	chr9:94504832..94506728-chr9:94510127..94512024,2	K562	blood:
36	chr9:94497979..94500430-chr9:94500591..94503129,2	K562	blood:
37	chr9:94496317..94496885-chr9:94901207..94901927,2	K562	blood:
38	chr9:94484405..94487196-chr9:94488976..94490889,3	K562	blood:
39	chr9:94500963..94503336-chr9:94841950..94843552,2	K562	blood:
40	chr9:94515164..94517727-chr9:94525396..94527024,2	K562	blood:
41	chr9:94504832..94506728-chr9:94510127..94512024,2	K562	blood:
42	chr9:94509113..94511832-chr9:94540924..94543887,2	K562	blood:
43	chr9:94534777..94536619-chr9:94540454..94542317,2	MCF-7	breast:
44	chr9:94512038..94515979-chr9:94518272..94520264,3	K562	blood:
45	chr9:94489892..94493220-chr9:94493878..94496839,3	K562	blood:
46	chr9:94508551..94510877-chr9:94514167..94515784,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000169071	chromatin interactions

Extended variants
information (count: 1817 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1817 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547520060	chr9:94490659-94490660	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565986181	chr9:94490661-94490662	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs202134218	chr9:94490681-94490682	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141451803	chr9:94490708-94490709	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373829743	chr9:94490713-94490714	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577905954	chr9:94490729-94490730	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34655591	chr9:94490757-94490758	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555024095	chr9:94490781-94490782	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9409650	chr9:94490838-94490839	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs537437228	chr9:94490857-94490858	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563713747	chr9:94490858-94490859	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558825253	chr9:94490862-94490863	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113563715	chr9:94490885-94490886	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533668150	chr9:94490942-94490943	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541268589	chr9:94490982-94490983	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540518892	chr9:94490992-94490993	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113284213	chr9:94490993-94490994	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574810383	chr9:94491041-94491042	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529469985	chr9:94491122-94491123	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78995057	chr9:94491163-94491164	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563620122	chr9:94491164-94491165	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186639542	chr9:94491223-94491224	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543398616	chr9:94491254-94491255	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564830252	chr9:94491255-94491256	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532189602	chr9:94491256-94491257	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547288563	chr9:94491257-94491258	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569346763	chr9:94491275-94491276	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146644033	chr9:94491277-94491278	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11415635	chr9:94491371-94491372	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs5899140	chr9:94491372-94491373	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75527250	chr9:94491385-94491386	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77012021	chr9:94491386-94491387	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs397954567	chr9:94491387-94491388	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140958809	chr9:94491388-94491389	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140192384	chr9:94491407-94491408	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs569956131	chr9:94491421-94491422	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs537097090	chr9:94491444-94491445	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs566294350	chr9:94491463-94491464	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs191887649	chr9:94491465-94491466	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs570866258	chr9:94491599-94491600	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs535085782	chr9:94491686-94491687	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs553174192	chr9:94491714-94491715	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs540338371	chr9:94491732-94491733	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs371708639	chr9:94491785-94491786	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs574721393	chr9:94491829-94491830	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs542004584	chr9:94491860-94491861	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs557275109	chr9:94491866-94491867	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs182807750	chr9:94491891-94491892	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs543057586	chr9:94491935-94491936	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs528990890	chr9:94491982-94491983	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
overgrowth syndrome	16570072	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:624 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94477200-94496800	Weak transcription	NHLF	lung
2	chr9:94477200-94533000	Weak transcription	Fetal Kidney	kidney
3	chr9:94482400-94491600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr9:94483000-94496600	Strong transcription	Fetal Stomach	stomach
5	chr9:94483400-94501600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr9:94483600-94504000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:94483600-94519400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr9:94485600-94491600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr9:94485800-94498400	Weak transcription	Fetal Muscle Leg	muscle
10	chr9:94486200-94521000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:94486800-94493000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr9:94486800-94496800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr9:94486800-94517400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:94487000-94496600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr9:94487000-94502200	Weak transcription	Esophagus	oesophagus
16	chr9:94487000-94535400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr9:94487200-94496800	Weak transcription	Spleen	Spleen
18	chr9:94487200-94497000	Weak transcription	Colonic Mucosa	Colon
19	chr9:94487600-94493800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr9:94487600-94496600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr9:94487800-94493000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:94488200-94496600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr9:94488400-94491400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr9:94488600-94491000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr9:94489000-94492400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr9:94489000-94493000	Weak transcription	Gastric	stomach
27	chr9:94489000-94508800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr9:94489200-94491600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:94489400-94492200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:94489600-94491000	Weak transcription	Colon Smooth Muscle	Colon
31	chr9:94489800-94491200	Enhancers	K562	blood
32	chr9:94490000-94491400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr9:94490000-94491400	Weak transcription	NHDF-Ad	bronchial
34	chr9:94490000-94493200	Weak transcription	Fetal Intestine Large	intestine
35	chr9:94490000-94495000	Strong transcription	Fetal Lung	lung
36	chr9:94490200-94491600	Weak transcription	Ovary	ovary
37	chr9:94490200-94491800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr9:94490200-94496400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr9:94490200-94496400	Weak transcription	Pancreas	Pancrea
40	chr9:94490200-94497400	Strong transcription	Fetal Intestine Small	intestine
41	chr9:94490400-94491600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr9:94490400-94491800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr9:94490400-94521000	Weak transcription	Right Atrium	heart
44	chr9:94490600-94492400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr9:94491000-94492000	Enhancers	Colon Smooth Muscle	Colon
46	chr9:94491000-94492000	Enhancers	HSMMtube	muscle
47	chr9:94491000-94495600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr9:94491200-94492200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr9:94491200-94492400	Enhancers	Fetal Heart	heart
50	chr9:94491200-94496400	Weak transcription	K562	blood

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