Variant report

Variant	esv3439010
Chromosome Location	chr9:104103556-104106104
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr9:104104921-104105199	HepG2	liver:	n/a	n/a
2	FOXA2	chr9:104104972-104105230	HepG2	liver:	n/a	n/a
3	FOXA2	chr9:104104911-104105398	A549	lung:	n/a	n/a
4	MAZ	chr9:104103955-104104070	HepG2	liver:	n/a	n/a
5	POLR2A	chr9:104103533-104103592	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr9:104105306-104105333	MCF10A-Er-Src	breast:	n/a	n/a
7	RAD21	chr9:104104270-104104548	H1-hESC	embryonic stem cell:	n/a	n/a
8	RAD21	chr9:104104244-104104576	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr9:104104311-104104529	HepG2	liver:	n/a	n/a
10	RAD21	chr9:104104339-104104532	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:104103989..104106039-chr9:104109171..104111640,2	K562	blood:
2	chr9:104103557..104105942-chr9:104115837..104118700,2	K562	blood:
3	chr9:104098689..104102029-chr9:104103709..104106511,4	K562	blood:

No data

Variant related genes	Relation type
BAATP1	TF binding region
ENSG00000227411	chromatin interactions

Extended variants
information (count: 66 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7849953	chr9:104103565-104103566	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs563066543	chr9:104103623-104103624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74502505	chr9:104103658-104103659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138142871	chr9:104103662-104103663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73656613	chr9:104103663-104103664	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs571875901	chr9:104103671-104103672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527850552	chr9:104103721-104103722	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs78430487	chr9:104103751-104103752	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs567760612	chr9:104103766-104103767	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs190648975	chr9:104103771-104103772	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs58787100	chr9:104103772-104103773	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs181987478	chr9:104103874-104103875	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs116678029	chr9:104103901-104103902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs549219928	chr9:104104046-104104047	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs557583685	chr9:104104067-104104068	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs113177903	chr9:104104116-104104117	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs16920211	chr9:104104141-104104142	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs184538817	chr9:104104220-104104221	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs573657542	chr9:104104260-104104261	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs17765735	chr9:104104350-104104351	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs112982120	chr9:104104379-104104380	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs531164803	chr9:104104449-104104450	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs78596064	chr9:104104500-104104501	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs553291944	chr9:104104552-104104553	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs527935696	chr9:104104579-104104580	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs547989604	chr9:104104683-104104684	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs567796464	chr9:104104684-104104685	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs530228574	chr9:104104714-104104715	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs549977184	chr9:104104736-104104737	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs570035580	chr9:104104740-104104741	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs538615293	chr9:104104763-104104764	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs186877256	chr9:104104803-104104804	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs188229856	chr9:104104852-104104853	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs571202360	chr9:104104977-104104978	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs145030907	chr9:104105039-104105040	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs181372209	chr9:104105082-104105083	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs185697568	chr9:104105083-104105084	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs190806376	chr9:104105094-104105095	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs182021560	chr9:104105106-104105107	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs74595624	chr9:104105127-104105128	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs545018351	chr9:104105142-104105143	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs565606004	chr9:104105186-104105187	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs544981647	chr9:104105241-104105242	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs11444242	chr9:104105250-104105251	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs572762410	chr9:104105294-104105295	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs186561064	chr9:104105318-104105319	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs192347080	chr9:104105321-104105322	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs561551282	chr9:104105339-104105340	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs530186576	chr9:104105370-104105371	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs4742812	chr9:104105377-104105378	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:65)

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
Melanoma	18172304	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
Acute myeloid leukemia	21251322	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
T-cell acute lymphoblastic leukemia	18185524	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Neuroblastoma	20406844	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104098600-104104200	Weak transcription	HepG2	liver
2	chr9:104104000-104106000	Enhancers	Liver	Liver
3	chr9:104104200-104104600	Enhancers	HepG2	liver
4	chr9:104104400-104106400	Enhancers	Stomach Mucosa	stomach
5	chr9:104104600-104104800	Flanking Active TSS	HSMM	muscle
6	chr9:104104600-104109600	Weak transcription	HepG2	liver
7	chr9:104104800-104105000	Active TSS	HSMM	muscle
8	chr9:104105000-104105400	Enhancers	A549	lung
9	chr9:104106000-104108800	Weak transcription	Liver	Liver

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