Variant report

Variant	esv3425590
Chromosome Location	chr9:72217232-72221730
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72207158..72209032-chr9:72218092..72220343,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM189A2-4	chr9:72217920-72219395	predAs_engstrom06_BM705037_1

Extended variants
information (count: 178 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:178 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139152006	chr9:72217244-72217245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186184734	chr9:72217250-72217251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529765253	chr9:72217253-72217254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190991676	chr9:72217258-72217259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143075736	chr9:72217340-72217341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567891847	chr9:72217342-72217343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531871460	chr9:72217390-72217391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538813898	chr9:72217413-72217414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114782711	chr9:72217423-72217424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571641391	chr9:72217424-72217425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183352217	chr9:72217444-72217445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547846168	chr9:72217453-72217454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566156913	chr9:72217468-72217469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147463720	chr9:72217469-72217470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186585065	chr9:72217476-72217477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191893716	chr9:72217496-72217497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555077352	chr9:72217514-72217515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558827879	chr9:72217573-72217574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182997382	chr9:72217575-72217576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540599592	chr9:72217670-72217671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558967177	chr9:72217714-72217715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188439449	chr9:72217824-72217825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192255748	chr9:72217833-72217834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138324390	chr9:72218009-72218010	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs531956252	chr9:72218032-72218033	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs550173942	chr9:72218056-72218057	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs182402037	chr9:72218072-72218073	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs532884995	chr9:72218093-72218094	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs143821976	chr9:72218105-72218106	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs547802294	chr9:72218106-72218107	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs7849601	chr9:72218163-72218164	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs536300729	chr9:72218164-72218165	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs548684113	chr9:72218206-72218207	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs554509881	chr9:72218212-72218213	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs537233209	chr9:72218213-72218214	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs367953941	chr9:72218228-72218229	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs78955847	chr9:72218251-72218252	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs568410075	chr9:72218252-72218253	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs36098286	chr9:72218264-72218265	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs568513378	chr9:72218308-72218309	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs186879650	chr9:72218381-72218382	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs541890853	chr9:72218408-72218409	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs369196652	chr9:72218412-72218413	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs534204839	chr9:72218448-72218449	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs78246953	chr9:72218458-72218459	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs148795991	chr9:72218470-72218471	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs541534386	chr9:72218490-72218491	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs563414506	chr9:72218533-72218534	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs192401834	chr9:72218536-72218537	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs543973879	chr9:72218607-72218608	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72207800-72220200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr9:72208600-72217400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr9:72209200-72219600	Weak transcription	Gastric	stomach
4	chr9:72209800-72217600	Weak transcription	Fetal Lung	lung
5	chr9:72212000-72219200	Weak transcription	Liver	Liver
6	chr9:72214400-72217600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:72215000-72219600	Weak transcription	Right Ventricle	heart
8	chr9:72215000-72220200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:72215200-72219600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:72215200-72221000	Weak transcription	Right Atrium	heart
11	chr9:72215400-72217600	Weak transcription	Fetal Muscle Leg	muscle
12	chr9:72215400-72217800	Weak transcription	Fetal Heart	heart
13	chr9:72215400-72219200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr9:72215600-72235200	Weak transcription	Aorta	Aorta
15	chr9:72215800-72218400	Enhancers	HUVEC	blood vessel
16	chr9:72216600-72217600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr9:72217000-72217400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr9:72217200-72217400	Enhancers	Pancreas	Pancrea
19	chr9:72217200-72221200	Enhancers	Ovary	ovary
20	chr9:72217400-72217600	Enhancers	Fetal Brain Male	brain
21	chr9:72217400-72218000	Weak transcription	Pancreas	Pancrea
22	chr9:72217400-72218200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr9:72217400-72218200	Enhancers	Fetal Brain Female	brain
24	chr9:72217400-72218400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr9:72217600-72218200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:72217600-72218200	Enhancers	Fetal Muscle Leg	muscle
27	chr9:72217600-72218400	Enhancers	Adipose Nuclei	Adipose
28	chr9:72217600-72218400	Enhancers	Fetal Lung	lung
29	chr9:72217600-72219200	Weak transcription	Fetal Brain Male	brain
30	chr9:72217800-72218200	Enhancers	Fetal Heart	heart
31	chr9:72218000-72218200	Enhancers	Pancreas	Pancrea
32	chr9:72218000-72218200	Enhancers	Spleen	Spleen
33	chr9:72218200-72219000	Weak transcription	Pancreas	Pancrea
34	chr9:72218200-72219000	Weak transcription	Spleen	Spleen
35	chr9:72218200-72219800	Weak transcription	Fetal Heart	heart
36	chr9:72218200-72220400	Weak transcription	Fetal Muscle Leg	muscle
37	chr9:72218400-72218800	Weak transcription	HUVEC	blood vessel
38	chr9:72218800-72220600	Enhancers	HUVEC	blood vessel
39	chr9:72219000-72219800	Enhancers	Pancreas	Pancrea
40	chr9:72219000-72219800	Enhancers	Spleen	Spleen
41	chr9:72219000-72220600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr9:72219200-72219600	Enhancers	Liver	Liver
43	chr9:72219200-72219600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr9:72219200-72219800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr9:72219200-72219800	Enhancers	Fetal Brain Male	brain
46	chr9:72219400-72219800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr9:72219400-72219800	Enhancers	Left Ventricle	heart
48	chr9:72219400-72221400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr9:72219600-72219800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr9:72219600-72219800	Enhancers	Gastric	stomach

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