Variant report

Variant	nsv1042498
Chromosome Location	chr9:72108751-72120265
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	chr9:72113417..72115409-chr9:72425666..72428097,2	K562	blood:
3	chr9:72108434..72110396-chr9:72113331..72115330,2	MCF-7	breast:
4	chr9:72088172..72090177-chr9:72119590..72122551,2	MCF-7	breast:
5	chr9:72099255..72100862-chr9:72117750..72119500,2	MCF-7	breast:
6	chr9:72098831..72100503-chr9:72120147..72122522,2	MCF-7	breast:
7	chr9:72098374..72100350-chr9:72107226..72109233,2	MCF-7	breast:
8	chr9:72108434..72110396-chr9:72113331..72115330,2	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: 434 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:434 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10867656	chr9:72108787-72108788	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191583119	chr9:72108801-72108802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368343388	chr9:72108818-72108819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184904164	chr9:72108826-72108827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79036756	chr9:72108850-72108851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77664049	chr9:72108872-72108873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551446178	chr9:72108880-72108881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571385859	chr9:72108887-72108888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540299321	chr9:72108915-72108916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561778765	chr9:72108918-72108919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574933844	chr9:72108932-72108933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190649309	chr9:72108990-72108991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563956725	chr9:72109017-72109018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2297420	chr9:72109038-72109039	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs181506287	chr9:72109043-72109044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564118699	chr9:72109045-72109046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528490213	chr9:72109052-72109053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185351599	chr9:72109057-72109058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2297421	chr9:72109077-72109078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs529434785	chr9:72109127-72109128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550492077	chr9:72109170-72109171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369139120	chr9:72109309-72109310	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs561278428	chr9:72109319-72109320	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs75447035	chr9:72109329-72109330	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs539723544	chr9:72109340-72109341	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs143074752	chr9:72109389-72109390	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs146894572	chr9:72109402-72109403	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs566438480	chr9:72109431-72109432	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146143954	chr9:72109458-72109459	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10217218	chr9:72109497-72109498	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs573652802	chr9:72109528-72109529	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189467288	chr9:72109535-72109536	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557259703	chr9:72109537-72109538	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371874301	chr9:72109611-72109612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181123567	chr9:72109644-72109645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546059803	chr9:72109655-72109656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564456135	chr9:72109663-72109664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76553985	chr9:72109681-72109682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185619361	chr9:72109690-72109691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189689131	chr9:72109708-72109709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79929712	chr9:72109715-72109716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551081365	chr9:72109723-72109724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180839198	chr9:72109745-72109746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538799006	chr9:72109770-72109771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10217407	chr9:72109840-72109841	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs551659207	chr9:72109909-72109910	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566773210	chr9:72109954-72109955	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534131330	chr9:72109979-72109980	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148370386	chr9:72110017-72110018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186086960	chr9:72110028-72110029	Enhancers 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:139 , 50 per page) page: 1 2 3

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

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