Variant report

Variant	esv3423972
Chromosome Location	chr2:35012350-35034951
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:35028378-35028458	GM13976	blood:	n/a	n/a
2	CTCF	chr2:35028761-35028786	Kidney_OC	kidney:	n/a	n/a
3	CTCF	chr2:35031642-35031715	Kidney_OC	kidney:	n/a	n/a
4	FOS	chr2:35012557-35012675	MCF10A-Er-Src	breast:	n/a	n/a
5	FOXA2	chr2:35026638-35027075	A549	lung:	n/a	n/a
6	JUN	chr2:35013636-35013813	HepG2	liver:	n/a	n/a
7	JUND	chr2:35023816-35023819	H1-hESC	embryonic stem cell:	n/a	n/a
8	JUND	chr2:35013606-35013798	HepG2	liver:	n/a	n/a
9	MAZ	chr2:35024477-35024522	HepG2	liver:	n/a	n/a
10	MYC	chr2:35013289-35013302	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr2:35014885-35015056	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr2:35023284-35023446	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr2:35014892-35015053	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr2:35012198-35012384	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr2:35026136-35026304	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr2:35016338-35016548	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr2:35014377-35014577	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr2:35023736-35024111	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr2:35024388-35024852	MCF10A-Er-Src	breast:	n/a	n/a
20	TEAD4	chr2:35020657-35020942	H1-hESC	embryonic stem cell:	n/a	n/a
21	TEAD4	chr2:35020688-35020973	H1-hESC	embryonic stem cell:	n/a	n/a
22	YY1	chr2:35020701-35020976	H1-hESC	embryonic stem cell:	n/a	chr2:35020822-35020834
23	ZBTB33	chr2:35014793-35015036	HepG2	liver:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM98A-10	chr2:35034320-35034623	NONHSAT070053
2	lnc-CRIM1-1	chr2:35024917-35024966	XLOC_001425

No data

Variant related genes	Relation type
ENSG00000226994	TF binding region
RN7SL602P	TF binding region
NAP1L1	miRNA target sites

Extended variants
information (count: 1180 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1180 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3833557	chr2:35012408-35012409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557763904	chr2:35012414-35012415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs3748924	chr2:35012427-35012428	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs540366887	chr2:35012428-35012429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs3748925	chr2:35012430-35012431	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs3748926	chr2:35012498-35012499	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs186669283	chr2:35012509-35012510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150841247	chr2:35012522-35012523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531256370	chr2:35012551-35012552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550967371	chr2:35012568-35012569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532149124	chr2:35012580-35012581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192441980	chr2:35012590-35012591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139302781	chr2:35012622-35012623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535909836	chr2:35012644-35012645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372542220	chr2:35012697-35012698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78193476	chr2:35012729-35012730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374310244	chr2:35012733-35012734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568938554	chr2:35012770-35012771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375149412	chr2:35012782-35012783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538174151	chr2:35012793-35012794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183841455	chr2:35012795-35012796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200408851	chr2:35012805-35012806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs67002993	chr2:35012806-35012807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs58228452	chr2:35012823-35012824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369454892	chr2:35012827-35012828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577616898	chr2:35012829-35012830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539848098	chr2:35012832-35012833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376831680	chr2:35012838-35012839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553313310	chr2:35012840-35012841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573419278	chr2:35012844-35012845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185266170	chr2:35012862-35012863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561971612	chr2:35012878-35012879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368049924	chr2:35012892-35012893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10195856	chr2:35012946-35012947	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs544928152	chr2:35012947-35012948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189734000	chr2:35012950-35012951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541000012	chr2:35012951-35012952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533626129	chr2:35012963-35012964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544700594	chr2:35012968-35012969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146542095	chr2:35012976-35012977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528102445	chr2:35013003-35013004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141232184	chr2:35013022-35013023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182077525	chr2:35013023-35013024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143870957	chr2:35013033-35013034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187066579	chr2:35013049-35013050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146878297	chr2:35013063-35013064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112301742	chr2:35013064-35013065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs72860487	chr2:35013065-35013066	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs140846327	chr2:35013082-35013083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558443080	chr2:35013091-35013092	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35011800-35013200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:35013800-35014600	Enhancers	Stomach Mucosa	stomach
3	chr2:35014000-35018000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:35014400-35015000	Enhancers	H9 Cell Line	embryonic stem cell
5	chr2:35014600-35019000	Weak transcription	Stomach Mucosa	stomach
6	chr2:35015000-35015400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:35015200-35016600	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr2:35016600-35017400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:35017400-35017800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr2:35017800-35019600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:35018000-35019000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:35019000-35019200	Enhancers	Stomach Mucosa	stomach
13	chr2:35019000-35019600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:35019600-35019800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
15	chr2:35019600-35021000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:35019800-35020800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:35020800-35021200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:35020800-35021800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:35021000-35021200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:35021200-35025600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:35021200-35035400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:35024600-35025000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:35025600-35026000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:35025800-35026200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr2:35029400-35029600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:35029600-35046600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:35031000-35031800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:35031400-35031800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr2:35031400-35032800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:35031400-35032800	Enhancers	NHEK	skin
31	chr2:35031800-35032600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:35032600-35033800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr2:35034800-35035000	Enhancers	Pancreas	Pancrea
34	chr2:35034800-35035200	Enhancers	Gastric	stomach

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