Variant report

Variant	esv2759695
Chromosome Location	chr9:72100569-72134376
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:11)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:72126490..72129215-chr9:72129544..72132569,4	MCF-7	breast:
2	chr9:72108434..72110396-chr9:72113331..72115330,2	MCF-7	breast:
3	chr9:72099255..72100862-chr9:72117750..72119500,2	MCF-7	breast:
4	chr9:72098374..72100350-chr9:72107226..72109233,2	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	chr9:72098831..72100503-chr9:72120147..72122522,2	MCF-7	breast:
8	chr9:72089155..72091732-chr9:72106824..72109478,2	MCF-7	breast:
9	chr9:72108434..72110396-chr9:72113331..72115330,2	MCF-7	breast:
10	chr9:72126490..72129215-chr9:72129544..72132569,4	MCF-7	breast:
11	chr9:72099255..72100862-chr9:72117750..72119500,2	MCF-7	breast:

(count:3 , 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
3	lnc-FAM189A2-3	chr9:72124873-72127579	ucscGeneNc_uc004ahs_1

No data

Extended variants
information (count: 1212 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1212 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1331977	chr9:72100569-72100570	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571728151	chr9:72100581-72100582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539244387	chr9:72100591-72100592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554136448	chr9:72100599-72100600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572780646	chr9:72100641-72100642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142431978	chr9:72100657-72100658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554993234	chr9:72100672-72100673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192572281	chr9:72100687-72100688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543528980	chr9:72100693-72100694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565399253	chr9:72100791-72100792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368549678	chr9:72100827-72100828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576925945	chr9:72100869-72100870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552661719	chr9:72100877-72100878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182790882	chr9:72100881-72100882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559178871	chr9:72100891-72100892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1331978	chr9:72100930-72100931	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs548121868	chr9:72100931-72100932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562931207	chr9:72100964-72100965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374240772	chr9:72101001-72101002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144385381	chr9:72101038-72101039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542801060	chr9:72101040-72101041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552778390	chr9:72101110-72101111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556295486	chr9:72101145-72101146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547966778	chr9:72101154-72101155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566317581	chr9:72101215-72101216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146462819	chr9:72101228-72101229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs17082116	chr9:72101319-72101320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372095790	chr9:72101380-72101381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11138890	chr9:72101402-72101403	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs200712957	chr9:72101420-72101421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558739521	chr9:72101483-72101484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577268363	chr9:72101488-72101489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111882548	chr9:72101502-72101503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187303437	chr9:72101505-72101506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13298177	chr9:72101525-72101526	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs193191163	chr9:72101605-72101606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555567238	chr9:72101608-72101609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541701709	chr9:72101627-72101628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563266956	chr9:72101647-72101648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7857219	chr9:72101672-72101673	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs545793909	chr9:72101673-72101674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34701104	chr9:72101678-72101679	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs528179257	chr9:72101700-72101701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200735488	chr9:72101725-72101726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546751858	chr9:72101746-72101747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184732874	chr9:72101753-72101754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530337847	chr9:72101756-72101757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540753437	chr9:72101757-72101758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548864329	chr9:72101760-72101761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144706937	chr9:72101768-72101769	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:321 , 50 per page) page: 1 2 3 4 5 6 7

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	chr9:72100000-72100800	Enhancers	HepG2	liver
7	chr9:72100000-72101600	Enhancers	Stomach Mucosa	stomach
8	chr9:72100200-72101400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr9:72100400-72101200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr9:72101200-72101600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr9:72101200-72101600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr9:72101400-72101600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:72101400-72101600	Enhancers	HepG2	liver
14	chr9:72101400-72101800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr9:72101400-72101800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr9:72101400-72101800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr9:72101400-72101800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:72101400-72101800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr9:72101400-72101800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr9:72101400-72102400	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr9:72101400-72102600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr9:72101400-72102600	Enhancers	Brain Hippocampus Middle	brain
23	chr9:72101600-72101800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr9:72101600-72101800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr9:72101600-72102400	Enhancers	Brain Substantia Nigra	brain
26	chr9:72101800-72108400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr9:72101800-72110200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr9:72102400-72111600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr9:72103400-72103800	Enhancers	Liver	Liver
30	chr9:72107600-72107800	Enhancers	Fetal Brain Female	brain
31	chr9:72107600-72107800	Enhancers	Pancreas	Pancrea
32	chr9:72107800-72111000	Weak transcription	Fetal Brain Female	brain
33	chr9:72107800-72130000	Weak transcription	Pancreas	Pancrea
34	chr9:72108400-72108600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr9:72108600-72109600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr9:72109200-72109400	Enhancers	Brain Germinal Matrix	brain
37	chr9:72109400-72109600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:72109400-72110000	Enhancers	Placenta Amnion	Placenta Amnion
39	chr9:72109400-72110200	Weak transcription	Brain Germinal Matrix	brain
40	chr9:72109600-72110400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr9:72109800-72110000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr9:72109800-72110000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr9:72109800-72110200	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr9:72109800-72110600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr9:72110000-72110400	Enhancers	H1 Cell Line	embryonic stem cell
46	chr9:72110000-72110400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr9:72110000-72114200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr9:72110200-72110400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr9:72110200-72110600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr9:72110200-72110600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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