Variant report

Variant	esv3478412
Chromosome Location	chr7:56439572-56441947
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567309277	chr7:56439678-56439679	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs150400133	chr7:56439689-56439690	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs534713123	chr7:56439697-56439698	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs553079109	chr7:56439700-56439701	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs577728486	chr7:56439701-56439702	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs374301130	chr7:56439734-56439735	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs545005097	chr7:56439829-56439830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145151346	chr7:56439949-56439950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149138616	chr7:56440306-56440307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201393341	chr7:56440469-56440470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150255710	chr7:56440694-56440695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370292754	chr7:56440719-56440720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374054765	chr7:56440762-56440763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368100291	chr7:56440799-56440800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370405489	chr7:56440811-56440812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79747251	chr7:56440834-56440835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553422113	chr7:56440884-56440885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373565286	chr7:56440885-56440886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573234593	chr7:56440896-56440897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539344606	chr7:56440916-56440917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs202106937	chr7:56440919-56440920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559340924	chr7:56440951-56440952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376807163	chr7:56440952-56440953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374403202	chr7:56440970-56440971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368332465	chr7:56440989-56440990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4612295	chr7:56441084-56441085	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4072174	chr7:56441202-56441203	ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs375403262	chr7:56441240-56441241	ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs575892368	chr7:56441309-56441310	ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs4618651	chr7:56441366-56441367	ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs4281080	chr7:56441454-56441455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4398857	chr7:56441464-56441465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4078490	chr7:56441501-56441502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4281081	chr7:56441503-56441504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4339585	chr7:56441546-56441547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371714593	chr7:56441600-56441601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200183754	chr7:56441648-56441649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575840626	chr7:56441902-56441903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200623437	chr7:56441903-56441904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
small cell lung cancer	20016488	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56439000-56439600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:56439400-56439800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr7:56439400-56439800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:56439400-56439800	ZNF genes & repeats	Pancreas	Pancrea
5	chr7:56439400-56439800	ZNF genes & repeats	Right Atrium	heart
6	chr7:56439400-56439800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
7	chr7:56439400-56439800	ZNF genes & repeats	Spleen	Spleen
8	chr7:56439600-56439800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr7:56439600-56439800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:56439600-56439800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:56439600-56439800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:56439600-56439800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:56439600-56439800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:56439600-56439800	ZNF genes & repeats	Aorta	Aorta
15	chr7:56439600-56439800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
16	chr7:56439600-56439800	ZNF genes & repeats	Esophagus	oesophagus
17	chr7:56439600-56439800	ZNF genes & repeats	Fetal Stomach	stomach
18	chr7:56439600-56439800	ZNF genes & repeats	Gastric	stomach
19	chr7:56439600-56439800	ZNF genes & repeats	Left Ventricle	heart
20	chr7:56439600-56439800	ZNF genes & repeats	Lung	lung
21	chr7:56439600-56439800	ZNF genes & repeats	Ovary	ovary
22	chr7:56439600-56439800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
23	chr7:56439600-56439800	ZNF genes & repeats	Right Ventricle	heart
24	chr7:56439600-56439800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
25	chr7:56439600-56439800	ZNF genes & repeats	Thymus	Thymus
26	chr7:56439600-56439800	ZNF genes & repeats	Dnd41	blood
27	chr7:56439800-56441000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr7:56439800-56441000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:56439800-56441000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:56439800-56441000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:56439800-56441000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:56439800-56441000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:56439800-56441000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:56439800-56441000	Weak transcription	Aorta	Aorta
35	chr7:56439800-56441000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr7:56439800-56441000	Weak transcription	Fetal Stomach	stomach
37	chr7:56439800-56441000	Weak transcription	Gastric	stomach
38	chr7:56439800-56441000	Weak transcription	Left Ventricle	heart
39	chr7:56439800-56441000	Weak transcription	Lung	lung
40	chr7:56439800-56441000	Weak transcription	Ovary	ovary
41	chr7:56439800-56441000	Weak transcription	Right Ventricle	heart
42	chr7:56439800-56441000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr7:56439800-56441000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr7:56439800-56441000	Weak transcription	Thymus	Thymus
45	chr7:56439800-56441000	Weak transcription	Spleen	Spleen
46	chr7:56439800-56441000	Weak transcription	Dnd41	blood
47	chr7:56439800-56442800	Weak transcription	Right Atrium	heart
48	chr7:56441000-56441200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:56441000-56441200	ZNF genes & repeats	Fetal Muscle Leg	muscle
50	chr7:56441000-56441200	Flanking Bivalent TSS/Enh	Placenta	Placenta

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