Variant report

Variant	nsv1041391
Chromosome Location	chr9:72097643-72120108
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:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:72099255..72100862-chr9:72117750..72119500,2	MCF-7	breast:
2	chr9:72098374..72100350-chr9:72107226..72109233,2	MCF-7	breast:
3	chr9:72098374..72100350-chr9:72107226..72109233,2	MCF-7	breast:
4	chr9:72099255..72100862-chr9:72117750..72119500,2	MCF-7	breast:
5	chr9:72098831..72100503-chr9:72120147..72122522,2	MCF-7	breast:
6	chr9:72113417..72115409-chr9:72425666..72428097,2	K562	blood:
7	chr9:72108434..72110396-chr9:72113331..72115330,2	MCF-7	breast:
8	chr9:72108434..72110396-chr9:72113331..72115330,2	MCF-7	breast:
9	chr9:72088172..72090177-chr9:72119590..72122551,2	MCF-7	breast:
10	chr9:72089155..72091732-chr9:72106824..72109478,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM189A2-1	chr9:72109203-72109429	ENSG00000229312.2
2	lnc-FAM189A2-1	chr9:72109203-72109429	ENSG00000229312.1

No data

Extended variants
information (count: 869 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:869 , 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	rs375952626	chr9:72097651-72097652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184377474	chr9:72097654-72097655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556190413	chr9:72097723-72097724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530915465	chr9:72097755-72097756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140835845	chr9:72097784-72097785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560018510	chr9:72097827-72097828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188420456	chr9:72097842-72097843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10125268	chr9:72097844-72097845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561998456	chr9:72097898-72097899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529541318	chr9:72097927-72097928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1929894	chr9:72097942-72097943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148285466	chr9:72097962-72097963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192754646	chr9:72097975-72097976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551827760	chr9:72097989-72097990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545239952	chr9:72098036-72098037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371931823	chr9:72098046-72098047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148685744	chr9:72098051-72098052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71744411	chr9:72098052-72098053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555623206	chr9:72098068-72098069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200331560	chr9:72098069-72098070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111645670	chr9:72098073-72098074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566863705	chr9:72098076-72098077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185007799	chr9:72098077-72098078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574122703	chr9:72098133-72098134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369350933	chr9:72098139-72098140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189126631	chr9:72098149-72098150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200590689	chr9:72098169-72098170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567512819	chr9:72098194-72098195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538127065	chr9:72098219-72098220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77192408	chr9:72098220-72098221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577543565	chr9:72098227-72098228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4744902	chr9:72098237-72098238	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs375792160	chr9:72098292-72098293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553790526	chr9:72098295-72098296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370042634	chr9:72098320-72098321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572050641	chr9:72098321-72098322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141341064	chr9:72098334-72098335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373884756	chr9:72098364-72098365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181065757	chr9:72098405-72098406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186986386	chr9:72098406-72098407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576878595	chr9:72098409-72098410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150352923	chr9:72098420-72098421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113292972	chr9:72098468-72098469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562866666	chr9:72098500-72098501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533321486	chr9:72098503-72098504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189494894	chr9:72098519-72098520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1331973	chr9:72098585-72098586	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs181490864	chr9:72098652-72098653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138068908	chr9:72098654-72098655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369596508	chr9:72098675-72098676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17133270	CNVD
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
Melanoma	22183965	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17899364	CNVD
Mantle cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72087800-72101400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:72092000-72098600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr9:72092200-72101600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr9:72098200-72098400	Enhancers	Psoas Muscle	Psoas
5	chr9:72098600-72099000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr9:72098600-72099600	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr9:72099000-72101400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr9:72099200-72099600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr9:72099200-72103600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr9:72099600-72101200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr9:72100000-72100200	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr9:72100000-72100800	Enhancers	HepG2	liver
13	chr9:72100000-72101600	Enhancers	Stomach Mucosa	stomach
14	chr9:72100200-72100400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr9:72100200-72101400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr9:72100400-72101200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr9:72101200-72101600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr9:72101200-72101600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr9:72101400-72101600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:72101400-72101600	Enhancers	HepG2	liver
21	chr9:72101400-72101800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr9:72101400-72101800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr9:72101400-72101800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr9:72101400-72101800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:72101400-72101800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr9:72101400-72101800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr9:72101400-72102400	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr9:72101400-72102600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr9:72101400-72102600	Enhancers	Brain Hippocampus Middle	brain
30	chr9:72101600-72101800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr9:72101600-72101800	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr9:72101600-72102400	Enhancers	Brain Substantia Nigra	brain
33	chr9:72101800-72108400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr9:72101800-72110200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr9:72102400-72111600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr9:72103400-72103800	Enhancers	Liver	Liver
37	chr9:72107600-72107800	Enhancers	Fetal Brain Female	brain
38	chr9:72107600-72107800	Enhancers	Pancreas	Pancrea
39	chr9:72107800-72111000	Weak transcription	Fetal Brain Female	brain
40	chr9:72107800-72130000	Weak transcription	Pancreas	Pancrea
41	chr9:72108400-72108600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr9:72108600-72109600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr9:72109200-72109400	Enhancers	Brain Germinal Matrix	brain
44	chr9:72109400-72109600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr9:72109400-72110000	Enhancers	Placenta Amnion	Placenta Amnion
46	chr9:72109400-72110200	Weak transcription	Brain Germinal Matrix	brain
47	chr9:72109600-72110400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr9:72109800-72110000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr9:72109800-72110000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr9:72109800-72110200	Enhancers	Cortex derived primary cultured neurospheres	brain

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