Variant report

Variant	esv3423375
Chromosome Location	chr9:72130157-72132705
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	chr9:72126490..72129215-chr9:72129544..72132569,4	MCF-7	breast:

Extended variants
information (count: 114 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569849515	chr9:72130164-72130165	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12336795	chr9:72130184-72130185	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs184911303	chr9:72130185-72130186	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189490635	chr9:72130247-72130248	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117787812	chr9:72130251-72130252	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534601592	chr9:72130264-72130265	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553050549	chr9:72130321-72130322	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142606424	chr9:72130449-72130450	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181644617	chr9:72130504-72130505	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540052338	chr9:72130606-72130607	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553961185	chr9:72130607-72130608	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201357314	chr9:72130613-72130614	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78309844	chr9:72130615-72130616	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs398010818	chr9:72130616-72130617	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74308373	chr9:72130621-72130622	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573241752	chr9:72130622-72130623	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185246204	chr9:72130646-72130647	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576595734	chr9:72130652-72130653	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543708870	chr9:72130664-72130665	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565579614	chr9:72130699-72130700	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577515990	chr9:72130709-72130710	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371877777	chr9:72130767-72130768	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542861208	chr9:72130795-72130796	Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559357896	chr9:72130805-72130806	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530102511	chr9:72130811-72130812	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190340761	chr9:72130894-72130895	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374794359	chr9:72130908-72130909	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200902799	chr9:72130918-72130919	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs367576452	chr9:72130937-72130938	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371819910	chr9:72130940-72130941	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199869388	chr9:72130947-72130948	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375520741	chr9:72130951-72130952	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144261581	chr9:72130953-72130954	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201762976	chr9:72131019-72131020	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201566446	chr9:72131044-72131045	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368633714	chr9:72131045-72131046	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150860646	chr9:72131086-72131087	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373701291	chr9:72131092-72131093	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201072152	chr9:72131118-72131119	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143764121	chr9:72131131-72131132	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181214374	chr9:72131194-72131195	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs36065434	chr9:72131211-72131212	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146374345	chr9:72131218-72131219	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112392437	chr9:72131257-72131258	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535512947	chr9:72131287-72131288	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557093832	chr9:72131288-72131289	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576517279	chr9:72131292-72131293	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537639097	chr9:72131293-72131294	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142998788	chr9:72131296-72131297	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372399092	chr9:72131309-72131310	Strong transcription ZNF genes & repeats Weak transcription Genic 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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72119200-72132400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr9:72120200-72130600	Weak transcription	Spleen	Spleen
3	chr9:72120600-72133400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr9:72125600-72131000	Weak transcription	Fetal Brain Male	brain
5	chr9:72126200-72130800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr9:72127400-72131400	Weak transcription	Adipose Nuclei	Adipose
7	chr9:72127800-72131200	Weak transcription	Right Ventricle	heart
8	chr9:72128400-72130800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:72128400-72131200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:72128400-72134600	Weak transcription	Left Ventricle	heart
11	chr9:72128600-72130200	Weak transcription	Fetal Stomach	stomach
12	chr9:72128600-72130600	Weak transcription	Aorta	Aorta
13	chr9:72128600-72130600	Weak transcription	Brain Angular Gyrus	brain
14	chr9:72128600-72131000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr9:72128600-72131400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr9:72128600-72132200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr9:72128800-72130600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr9:72128800-72130600	Enhancers	HepG2	liver
19	chr9:72128800-72130800	Weak transcription	Ovary	ovary
20	chr9:72128800-72131400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr9:72128800-72133200	Weak transcription	Brain Substantia Nigra	brain
22	chr9:72129000-72130400	Weak transcription	Brain Hippocampus Middle	brain
23	chr9:72129200-72130200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr9:72129200-72130800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr9:72129800-72130800	Weak transcription	Lung	lung
26	chr9:72129800-72131200	Strong transcription	Brain Germinal Matrix	brain
27	chr9:72130000-72130400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:72130000-72131000	Strong transcription	Brain Anterior Caudate	brain
29	chr9:72130000-72131000	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr9:72130000-72131200	Strong transcription	Fetal Brain Female	brain
31	chr9:72130000-72131600	Strong transcription	Liver	Liver
32	chr9:72130000-72131600	Strong transcription	Fetal Muscle Leg	muscle
33	chr9:72130000-72131800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr9:72130000-72132000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr9:72130000-72132000	Strong transcription	Pancreas	Pancrea
36	chr9:72130000-72132200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr9:72130000-72132600	Weak transcription	Fetal Lung	lung
38	chr9:72130000-72136600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr9:72130200-72132200	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr9:72130200-72132600	Strong transcription	Fetal Stomach	stomach
41	chr9:72130400-72130800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:72130400-72131000	Strong transcription	Brain Hippocampus Middle	brain
43	chr9:72130400-72131400	Weak transcription	Gastric	stomach
44	chr9:72130600-72130800	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr9:72130600-72131400	Strong transcription	Spleen	Spleen
46	chr9:72130600-72131800	Strong transcription	Aorta	Aorta
47	chr9:72130600-72131800	Strong transcription	Brain Angular Gyrus	brain
48	chr9:72130600-72134000	Weak transcription	HepG2	liver
49	chr9:72130800-72131400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr9:72130800-72131600	Strong transcription	Stomach Smooth Muscle	stomach

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