Variant report

Variant	nsv521046
Chromosome Location	chr9:94456714-94476418
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94469048..94471764-chr9:94472255..94474625,2	MCF-7	breast:
2	chr9:94444042..94444597-chr9:94475780..94476737,2	MCF-7	breast:
3	chr9:94186298..94187810-chr9:94475229..94478202,2	MCF-7	breast:
4	chr9:94469048..94471764-chr9:94472255..94474625,2	MCF-7	breast:
5	chr8:144976748..144977249-chr9:94459138..94459897,2	MCF-7	breast:
6	chr9:94474813..94478609-chr9:94479157..94482495,5	K562	blood:

Extended variants
information (count: 745 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:745 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs923769	chr9:94456714-94456715	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558193440	chr9:94456832-94456833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576987260	chr9:94456883-94456884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540893120	chr9:94456954-94456955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150063276	chr9:94456955-94456956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145194423	chr9:94457077-94457078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542103010	chr9:94457087-94457088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563674456	chr9:94457130-94457131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187083223	chr9:94457136-94457137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191682075	chr9:94457141-94457142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570985922	chr9:94457153-94457154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148728557	chr9:94457216-94457217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546920927	chr9:94457299-94457300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370172952	chr9:94457325-94457326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556993895	chr9:94457330-94457331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568639011	chr9:94457344-94457345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76118006	chr9:94457350-94457351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12684339	chr9:94457379-94457380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184235225	chr9:94457382-94457383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535566900	chr9:94457394-94457395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs3123758	chr9:94457410-94457411	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs558105438	chr9:94457469-94457470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576899878	chr9:94457472-94457473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144707442	chr9:94457498-94457499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147911259	chr9:94457522-94457523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189015011	chr9:94457542-94457543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542162630	chr9:94457543-94457544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113100254	chr9:94457661-94457662	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs386736264	chr9:94457683-94457684	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs56915672	chr9:94457690-94457691	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs56706651	chr9:94457697-94457698	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs563546809	chr9:94457701-94457702	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs58344322	chr9:94457703-94457704	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs200058477	chr9:94457710-94457711	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs201784688	chr9:94457712-94457713	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs139998611	chr9:94457713-94457714	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs80031575	chr9:94457714-94457715	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs71362352	chr9:94457715-94457716	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs58063397	chr9:94457730-94457731	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs61339153	chr9:94457735-94457736	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs190709436	chr9:94457741-94457742	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs57075934	chr9:94457742-94457743	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs59208937	chr9:94457755-94457756	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs58737111	chr9:94457764-94457765	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs61332866	chr9:94457767-94457768	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs61099958	chr9:94457774-94457775	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs200140909	chr9:94457775-94457776	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs60155938	chr9:94457777-94457778	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs13295284	chr9:94457787-94457788	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs367985391	chr9:94457798-94457799	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	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
Breast cancer	22522925	CNVD
overgrowth syndrome	16570072	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:241 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94444200-94461400	Weak transcription	Right Atrium	heart
2	chr9:94450600-94457600	Weak transcription	Gastric	stomach
3	chr9:94451600-94457600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:94453200-94457600	Weak transcription	Pancreas	Pancrea
5	chr9:94453400-94463600	Weak transcription	Fetal Stomach	stomach
6	chr9:94454000-94468200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr9:94455200-94456800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr9:94455200-94457000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr9:94455400-94457200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr9:94455600-94456800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr9:94455600-94456800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:94455800-94457200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr9:94456000-94456800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr9:94456000-94456800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr9:94456000-94457000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr9:94456200-94457600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:94456200-94457600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr9:94456400-94457600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr9:94456400-94457600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr9:94456400-94457800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr9:94456600-94460000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr9:94456600-94460400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr9:94456600-94462400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr9:94456800-94457600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr9:94456800-94458200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr9:94456800-94459400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr9:94457400-94457600	Enhancers	Spleen	Spleen
28	chr9:94457600-94457800	Bivalent Enhancer	Brain Substantia Nigra	brain
29	chr9:94457600-94458000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr9:94457600-94458000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr9:94457600-94458000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:94457600-94458000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
33	chr9:94457600-94458000	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr9:94457600-94458000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr9:94457600-94458000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
36	chr9:94457600-94458000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr9:94457600-94458000	Enhancers	Esophagus	oesophagus
38	chr9:94457600-94458000	ZNF genes & repeats	Fetal Kidney	kidney
39	chr9:94457600-94458000	Active TSS	Fetal Lung	lung
40	chr9:94457600-94458000	Enhancers	Gastric	stomach
41	chr9:94457600-94458000	Enhancers	Lung	lung
42	chr9:94457600-94458000	ZNF genes & repeats	Pancreas	Pancrea
43	chr9:94457600-94458000	Flanking Active TSS	Spleen	Spleen
44	chr9:94457600-94458000	Active TSS	Hela-S3	cervix
45	chr9:94457600-94458000	ZNF genes & repeats	K562	blood
46	chr9:94457800-94458400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr9:94457800-94458600	Enhancers	Ovary	ovary
48	chr9:94458000-94458200	Weak transcription	Pancreas	Pancrea
49	chr9:94458000-94458200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
50	chr9:94458000-94459600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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