Variant report

Variant	esv3438904
Chromosome Location	chr1:223821529-223826327
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:223825571-223825761	IMR90	lung:	n/a	n/a
2	CEBPB	chr1:223822220-223822370	HepG2	liver:	n/a	n/a
3	E2F4	chr1:223824611-223824627	MCF10A-Er-Src	breast:	n/a	n/a
4	E2F4	chr1:223822581-223822602	MCF10A-Er-Src	breast:	n/a	n/a
5	ELF1	chr1:223822149-223822442	K562	blood:	n/a	n/a
6	FOXA1	chr1:223822896-223823269	HepG2	liver:	n/a	n/a
7	FOXA1	chr1:223822944-223823302	HepG2	liver:	n/a	n/a
8	FOXA1	chr1:223822996-223823277	HepG2	liver:	n/a	n/a
9	FOXA2	chr1:223823012-223823230	HepG2	liver:	n/a	n/a
10	MAFK	chr1:223823114-223823190	HepG2	liver:	n/a	n/a
11	ZNF263	chr1:223821737-223822197	HEK293-T-REx	kidney:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:223826154..223828830-chr1:223841356..223843010,2	MCF-7	breast:
2	chr1:223817010..223818658-chr1:223819579..223821945,2	K562	blood:
3	chr1:223823766..223826400-chr1:223828935..223830773,2	K562	blood:
4	chr1:223825136..223827090-chr1:223853987..223856973,2	MCF-7	breast:

No data

Variant related genes	Relation type
CAPN8	TF binding region
ENSG00000203697	chromatin interactions

Extended variants
information (count: 180 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:180 , 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	rs567507356	chr1:223821548-223821549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538173619	chr1:223821621-223821622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542743897	chr1:223821637-223821638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77054750	chr1:223821638-223821639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538664547	chr1:223821695-223821696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189201242	chr1:223821712-223821713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141248290	chr1:223821714-223821715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs180847854	chr1:223821719-223821720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150781331	chr1:223821724-223821725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139290374	chr1:223821743-223821744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544560779	chr1:223821757-223821758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376539939	chr1:223821775-223821776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185643533	chr1:223821823-223821824	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs188450178	chr1:223821829-223821830	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs544700782	chr1:223821830-223821831	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs111895734	chr1:223821847-223821848	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs527419500	chr1:223821910-223821911	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs35133270	chr1:223821917-223821918	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs116820687	chr1:223821942-223821943	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs371388707	chr1:223821982-223821983	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs376195445	chr1:223822020-223822021	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs531778249	chr1:223822044-223822045	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs72747941	chr1:223822082-223822083	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs185927279	chr1:223822092-223822093	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs532809342	chr1:223822106-223822107	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs114722244	chr1:223822119-223822120	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs150015504	chr1:223822168-223822169	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs190382547	chr1:223822169-223822170	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs555093619	chr1:223822189-223822190	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs183887700	chr1:223822190-223822191	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs147655484	chr1:223822207-223822208	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs140724728	chr1:223822225-223822226	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs535569769	chr1:223822232-223822233	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs116292094	chr1:223822239-223822240	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs144660728	chr1:223822278-223822279	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs73125613	chr1:223822289-223822290	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs557705836	chr1:223822382-223822383	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs560658816	chr1:223822397-223822398	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs187358287	chr1:223822398-223822399	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs147955716	chr1:223822428-223822429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73125614	chr1:223822450-223822451	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs190973470	chr1:223822465-223822466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548045581	chr1:223822475-223822476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546200496	chr1:223822477-223822478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530128787	chr1:223822486-223822487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548559011	chr1:223822496-223822497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115627923	chr1:223822511-223822512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537518753	chr1:223822536-223822537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371653622	chr1:223822550-223822551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149014118	chr1:223822555-223822556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223808600-223825000	Weak transcription	Gastric	stomach
2	chr1:223809600-223827600	Weak transcription	Colonic Mucosa	Colon
3	chr1:223820800-223822000	Weak transcription	Liver	Liver
4	chr1:223821000-223822800	Weak transcription	Stomach Mucosa	stomach
5	chr1:223821400-223821800	Weak transcription	Pancreas	Pancrea
6	chr1:223821800-223822200	ZNF genes & repeats	Pancreas	Pancrea
7	chr1:223822000-223822400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
8	chr1:223822000-223823200	Enhancers	Liver	Liver
9	chr1:223822200-223833400	Weak transcription	Pancreas	Pancrea
10	chr1:223822400-223822800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:223822800-223823200	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr1:223822800-223823200	Genic enhancers	Stomach Mucosa	stomach
13	chr1:223823200-223824800	Weak transcription	Stomach Mucosa	stomach
14	chr1:223823200-223825000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:223823200-223826400	Weak transcription	Liver	Liver
16	chr1:223823400-223826400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:223824800-223825000	Enhancers	Stomach Mucosa	stomach
18	chr1:223825000-223825200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:223825000-223825200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr1:223825000-223825200	ZNF genes & repeats	Gastric	stomach
21	chr1:223825000-223825200	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr1:223825000-223825400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:223825000-223826000	Genic enhancers	Stomach Mucosa	stomach
24	chr1:223825200-223826400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:223825200-223827400	Weak transcription	Gastric	stomach
26	chr1:223826000-223826400	Enhancers	Stomach Mucosa	stomach

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