Variant report

Variant	nsv466409
Chromosome Location	chr9:72100051-72118962
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:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:72099255..72100862-chr9:72117750..72119500,2	MCF-7	breast:
2	chr9:72108434..72110396-chr9:72113331..72115330,2	MCF-7	breast:
3	chr9:72113417..72115409-chr9:72425666..72428097,2	K562	blood:
4	chr9:72098374..72100350-chr9:72107226..72109233,2	MCF-7	breast:
5	chr9:72108434..72110396-chr9:72113331..72115330,2	MCF-7	breast:
6	chr9:72098374..72100350-chr9:72107226..72109233,2	MCF-7	breast:
7	chr9:72098831..72100503-chr9:72120147..72122522,2	MCF-7	breast:
8	chr9:72099255..72100862-chr9:72117750..72119500,2	MCF-7	breast:
9	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: 747 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:747 , 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	rs7021184	chr9:72100051-72100052	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573943195	chr9:72100052-72100053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190770201	chr9:72100064-72100065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545362775	chr9:72100069-72100070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554478669	chr9:72100107-72100108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572444157	chr9:72100109-72100110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12001157	chr9:72100118-72100119	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs182869862	chr9:72100160-72100161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576608046	chr9:72100204-72100205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187569056	chr9:72100220-72100221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564914527	chr9:72100221-72100222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532362779	chr9:72100222-72100223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547344709	chr9:72100234-72100235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559611426	chr9:72100262-72100263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529423077	chr9:72100285-72100286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs57539383	chr9:72100328-72100329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1331976	chr9:72100404-72100405	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs547788436	chr9:72100467-72100468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10116169	chr9:72100470-72100471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34862651	chr9:72100493-72100494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569361596	chr9:72100497-72100498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536742488	chr9:72100503-72100504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538109315	chr9:72100566-72100567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1331977	chr9:72100569-72100570	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs571728151	chr9:72100581-72100582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539244387	chr9:72100591-72100592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554136448	chr9:72100599-72100600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572780646	chr9:72100641-72100642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142431978	chr9:72100657-72100658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554993234	chr9:72100672-72100673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192572281	chr9:72100687-72100688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543528980	chr9:72100693-72100694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565399253	chr9:72100791-72100792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368549678	chr9:72100827-72100828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576925945	chr9:72100869-72100870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552661719	chr9:72100877-72100878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182790882	chr9:72100881-72100882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559178871	chr9:72100891-72100892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1331978	chr9:72100930-72100931	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs548121868	chr9:72100931-72100932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562931207	chr9:72100964-72100965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374240772	chr9:72101001-72101002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144385381	chr9:72101038-72101039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542801060	chr9:72101040-72101041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552778390	chr9:72101110-72101111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556295486	chr9:72101145-72101146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547966778	chr9:72101154-72101155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566317581	chr9:72101215-72101216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146462819	chr9:72101228-72101229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs17082116	chr9:72101319-72101320	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:162 , 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	chr9:72092200-72101600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr9:72099000-72101400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:72099200-72103600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr9:72099600-72101200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr9:72100000-72100200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr9:72100000-72100800	Enhancers	HepG2	liver
8	chr9:72100000-72101600	Enhancers	Stomach Mucosa	stomach
9	chr9:72100200-72100400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr9:72100200-72101400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr9:72100400-72101200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr9:72101200-72101600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr9:72101200-72101600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr9:72101400-72101600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:72101400-72101600	Enhancers	HepG2	liver
16	chr9:72101400-72101800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr9:72101400-72101800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr9:72101400-72101800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr9:72101400-72101800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:72101400-72101800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr9:72101400-72101800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr9:72101400-72102400	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr9:72101400-72102600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr9:72101400-72102600	Enhancers	Brain Hippocampus Middle	brain
25	chr9:72101600-72101800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr9:72101600-72101800	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr9:72101600-72102400	Enhancers	Brain Substantia Nigra	brain
28	chr9:72101800-72108400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr9:72101800-72110200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr9:72102400-72111600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr9:72103400-72103800	Enhancers	Liver	Liver
32	chr9:72107600-72107800	Enhancers	Fetal Brain Female	brain
33	chr9:72107600-72107800	Enhancers	Pancreas	Pancrea
34	chr9:72107800-72111000	Weak transcription	Fetal Brain Female	brain
35	chr9:72107800-72130000	Weak transcription	Pancreas	Pancrea
36	chr9:72108400-72108600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr9:72108600-72109600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr9:72109200-72109400	Enhancers	Brain Germinal Matrix	brain
39	chr9:72109400-72109600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr9:72109400-72110000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr9:72109400-72110200	Weak transcription	Brain Germinal Matrix	brain
42	chr9:72109600-72110400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr9:72109800-72110000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr9:72109800-72110000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr9:72109800-72110200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr9:72109800-72110600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr9:72110000-72110400	Enhancers	H1 Cell Line	embryonic stem cell
48	chr9:72110000-72110400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr9:72110000-72114200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr9:72110200-72110400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived

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