Variant report

Variant	esv3527128
Chromosome Location	chr9:110426581-110432429
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr9:110431173-110431333	K562	blood:	n/a	n/a
2	E2F6	chr9:110430066-110430180	K562	blood:	n/a	chr9:110430125-110430132 chr9:110430124-110430136 chr9:110430125-110430132 chr9:110430125-110430132
3	MYC	chr9:110430058-110430236	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr9:110430371-110430435	MCF-7	breast:	n/a	n/a
5	PRDM1	chr9:110429517-110429674	Hela-S3	cervix:	n/a	chr9:110429550-110429564 chr9:110429578-110429591 chr9:110429576-110429591 chr9:110429577-110429591 chr9:110429551-110429560 chr9:110429549-110429564
6	STAT3	chr9:110427181-110427292	MCF10A-Er-Src	breast:	n/a	n/a
7	TAL1	chr9:110431161-110431374	K562	blood:	n/a	n/a
8	TEAD4	chr9:110431045-110431429	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:110429198..110431550-chr9:110446685..110449581,2	K562	blood:
2	chr9:110428302..110430698-chr9:110445518..110448185,2	K562	blood:
3	chr9:110425959..110427637-chr9:110435730..110438629,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-996P	TF binding region

Extended variants
information (count: 259 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370233643	chr9:110426605-110426606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552090407	chr9:110426633-110426634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552765069	chr9:110426674-110426675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74569343	chr9:110426679-110426680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139352108	chr9:110426680-110426681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377636466	chr9:110426724-110426725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78465555	chr9:110426725-110426726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534813544	chr9:110426757-110426758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189291818	chr9:110426809-110426810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10118690	chr9:110426835-110426836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs10978983	chr9:110426890-110426891	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs10118715	chr9:110426969-110426970	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs35485941	chr9:110426992-110426993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76236643	chr9:110427010-110427011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62569568	chr9:110427012-110427013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576387546	chr9:110427052-110427053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192326904	chr9:110427074-110427075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561883809	chr9:110427078-110427079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529049814	chr9:110427079-110427080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370236274	chr9:110427105-110427106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79726449	chr9:110427160-110427161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184786225	chr9:110427206-110427207	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs532992530	chr9:110427221-110427222	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs369811120	chr9:110427223-110427224	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs551069643	chr9:110427282-110427283	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs72744117	chr9:110427366-110427367	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs189647531	chr9:110427369-110427370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549238484	chr9:110427402-110427403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181385655	chr9:110427406-110427407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147719836	chr9:110427473-110427474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140356853	chr9:110427539-110427540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571627480	chr9:110427555-110427556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539056719	chr9:110427573-110427574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184450333	chr9:110427607-110427608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575679591	chr9:110427637-110427638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189268382	chr9:110427644-110427645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117956209	chr9:110427645-110427646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573925795	chr9:110427692-110427693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368835766	chr9:110427705-110427706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181905787	chr9:110427780-110427781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186472387	chr9:110427782-110427783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554006708	chr9:110427791-110427792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545054644	chr9:110427793-110427794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190854885	chr9:110427801-110427802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530379546	chr9:110427811-110427812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549306289	chr9:110427850-110427851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs180913164	chr9:110427891-110427892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147764504	chr9:110427896-110427897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546861540	chr9:110427924-110427925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186213755	chr9:110427927-110427928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
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
Oral squamous cell carcinoma	17134496	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
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110413000-110437000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:110426000-110435600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr9:110427200-110427400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:110427200-110427600	Enhancers	HSMMtube	muscle
5	chr9:110427200-110427600	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr9:110427400-110427600	Enhancers	Fetal Stomach	stomach
7	chr9:110427600-110429200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr9:110427600-110429600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:110427600-110429600	Weak transcription	HSMMtube	muscle
10	chr9:110429200-110429800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr9:110429200-110429800	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr9:110429200-110430600	Enhancers	Fetal Muscle Trunk	muscle
13	chr9:110429200-110430600	Enhancers	Fetal Muscle Leg	muscle
14	chr9:110429400-110429800	Enhancers	Right Atrium	heart
15	chr9:110429400-110430000	Enhancers	Placenta	Placenta
16	chr9:110429400-110430000	Enhancers	Spleen	Spleen
17	chr9:110429400-110430400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr9:110429400-110430400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr9:110429400-110430400	Enhancers	Fetal Lung	lung
20	chr9:110429400-110430400	Enhancers	Fetal Stomach	stomach
21	chr9:110429400-110430600	Enhancers	Brain Hippocampus Middle	brain
22	chr9:110429400-110430600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr9:110429600-110430000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:110429600-110430200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:110429600-110430200	Enhancers	Brain Cingulate Gyrus	brain
26	chr9:110429600-110430400	Enhancers	Brain Angular Gyrus	brain
27	chr9:110429600-110430400	Enhancers	HSMMtube	muscle
28	chr9:110429600-110430600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:110429600-110430600	Enhancers	Adipose Nuclei	Adipose
30	chr9:110429600-110430600	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr9:110429600-110430600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr9:110429600-110430600	Enhancers	Brain Substantia Nigra	brain
33	chr9:110429600-110430800	Enhancers	HUVEC	blood vessel
34	chr9:110429600-110431200	Enhancers	Left Ventricle	heart
35	chr9:110429800-110430200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr9:110429800-110430200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr9:110429800-110430400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr9:110429800-110430400	Enhancers	Stomach Smooth Muscle	stomach
39	chr9:110429800-110430400	Enhancers	HSMM	muscle
40	chr9:110430200-110430600	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr9:110430400-110435800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr9:110430600-110431800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr9:110430600-110436200	Weak transcription	Fetal Muscle Leg	muscle
44	chr9:110431800-110432000	Enhancers	Fetal Muscle Trunk	muscle

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