Variant report

Variant	nsv1041353
Chromosome Location	chr9:72105601-72120265
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:8)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

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

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

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

No data

Extended variants
information (count: 560 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:560 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572569779	chr9:72105726-72105727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543183926	chr9:72105728-72105729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142273435	chr9:72105740-72105741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145966429	chr9:72105748-72105749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138787638	chr9:72105777-72105778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149169389	chr9:72105779-72105780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143275375	chr9:72105788-72105789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148319384	chr9:72105812-72105813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200989575	chr9:72105855-72105856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565374508	chr9:72105870-72105871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77055166	chr9:72105873-72105874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547907898	chr9:72105886-72105887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576454622	chr9:72105921-72105922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146299140	chr9:72105940-72105941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142582361	chr9:72105978-72105979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538450044	chr9:72106034-72106035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556541480	chr9:72106037-72106038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs578201231	chr9:72106073-72106074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539387707	chr9:72106078-72106079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554199425	chr9:72106084-72106085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572508536	chr9:72106089-72106090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543123001	chr9:72106092-72106093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561448818	chr9:72106095-72106096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576114292	chr9:72106101-72106102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543606362	chr9:72106123-72106124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545288569	chr9:72106227-72106228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185168704	chr9:72106228-72106229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532261793	chr9:72106256-72106257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565437588	chr9:72106319-72106320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189836117	chr9:72106334-72106335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558899558	chr9:72106349-72106350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527983439	chr9:72106411-72106412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529661015	chr9:72106481-72106482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547848713	chr9:72106485-72106486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548108758	chr9:72106494-72106495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201279438	chr9:72106522-72106523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569743181	chr9:72106547-72106548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560234063	chr9:72106563-72106564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550349336	chr9:72106608-72106609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368576600	chr9:72106624-72106625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10867647	chr9:72106629-72106630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs539323322	chr9:72106659-72106660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554534680	chr9:72106672-72106673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs151248069	chr9:72106681-72106682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575943184	chr9:72106697-72106698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143011565	chr9:72106707-72106708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536654766	chr9:72106743-72106744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554718335	chr9:72106783-72106784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs58534303	chr9:72106784-72106785	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs568873563	chr9:72106793-72106794	Weak transcription	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:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72101800-72108400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr9:72101800-72110200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:72102400-72111600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr9:72107600-72107800	Enhancers	Fetal Brain Female	brain
5	chr9:72107600-72107800	Enhancers	Pancreas	Pancrea
6	chr9:72107800-72111000	Weak transcription	Fetal Brain Female	brain
7	chr9:72107800-72130000	Weak transcription	Pancreas	Pancrea
8	chr9:72108400-72108600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr9:72108600-72109600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr9:72109200-72109400	Enhancers	Brain Germinal Matrix	brain
11	chr9:72109400-72109600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:72109400-72110000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr9:72109400-72110200	Weak transcription	Brain Germinal Matrix	brain
14	chr9:72109600-72110400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr9:72109800-72110000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr9:72109800-72110000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr9:72109800-72110200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr9:72109800-72110600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:72110000-72110400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr9:72110000-72110400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr9:72110000-72114200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr9:72110200-72110400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr9:72110200-72110600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr9:72110200-72110600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr9:72110200-72110800	Enhancers	Brain Germinal Matrix	brain
26	chr9:72110200-72111600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr9:72110200-72114200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr9:72110400-72110800	Enhancers	Fetal Muscle Leg	muscle
29	chr9:72110400-72112400	Enhancers	Brain Anterior Caudate	brain
30	chr9:72110400-72114400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr9:72110400-72114600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr9:72110400-72115000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr9:72110600-72112400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:72110800-72112600	Weak transcription	Fetal Muscle Leg	muscle
35	chr9:72110800-72116800	Weak transcription	Brain Germinal Matrix	brain
36	chr9:72111000-72111200	Enhancers	Fetal Brain Female	brain
37	chr9:72111200-72115000	Weak transcription	Fetal Brain Female	brain
38	chr9:72111400-72113600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr9:72111600-72111800	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr9:72111600-72114800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr9:72111800-72112200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr9:72112000-72114800	Weak transcription	Aorta	Aorta
43	chr9:72112200-72112400	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr9:72112200-72112400	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr9:72112200-72113400	Enhancers	Psoas Muscle	Psoas
46	chr9:72112400-72112600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr9:72112400-72113000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr9:72112400-72118000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr9:72112400-72118200	Weak transcription	Brain Anterior Caudate	brain
50	chr9:72112600-72112800	Enhancers	Skeletal Muscle Male	skeletal muscle

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