Variant report

Variant	esv3342923
Chromosome Location	chr7:137815746-137835515
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:137816714..137818662-chr7:137822102..137823677,2	K562	blood:
2	chr7:137808206..137811036-chr7:137813988..137816221,2	K562	blood:
3	chr7:137816714..137818662-chr7:137822102..137823677,2	K562	blood:

Variant related genes	Relation type
ENSG00000266193	chromatin interactions

Extended variants
information (count: 650 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:650 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115609031	chr7:137815775-137815776	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs17169527	chr7:137815855-137815856	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs563105189	chr7:137815867-137815868	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs112733052	chr7:137815926-137815927	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs530450986	chr7:137815965-137815966	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs183985281	chr7:137815966-137815967	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs189625925	chr7:137815987-137815988	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs180811323	chr7:137815995-137815996	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs145890184	chr7:137816004-137816005	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs184329939	chr7:137816018-137816019	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs566319952	chr7:137816030-137816031	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs535229658	chr7:137816093-137816094	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs555332581	chr7:137816124-137816125	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs568756299	chr7:137816162-137816163	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs190442303	chr7:137816171-137816172	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs557043396	chr7:137816195-137816196	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs76831756	chr7:137816245-137816246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545933529	chr7:137816306-137816307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115084612	chr7:137816309-137816310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369428123	chr7:137816358-137816359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17133402	chr7:137816374-137816375	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs541600893	chr7:137816385-137816386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73155775	chr7:137816421-137816422	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs371923728	chr7:137816448-137816449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530689422	chr7:137816462-137816463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149001584	chr7:137816500-137816501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144440290	chr7:137816541-137816542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71533776	chr7:137816582-137816583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs3057906	chr7:137816619-137816620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78628631	chr7:137816686-137816687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73155777	chr7:137816726-137816727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs9656504	chr7:137816732-137816733	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs528732609	chr7:137816801-137816802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532919231	chr7:137816850-137816851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548763918	chr7:137816907-137816908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568790812	chr7:137816955-137816956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78587064	chr7:137816985-137816986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557331265	chr7:137816992-137816993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146612520	chr7:137817036-137817037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569712499	chr7:137817065-137817066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115407154	chr7:137817080-137817081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553078114	chr7:137817179-137817180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535141513	chr7:137817183-137817184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200980743	chr7:137817189-137817190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1844398	chr7:137817200-137817201	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs187903471	chr7:137820217-137820218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373954252	chr7:137820241-137820242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565231270	chr7:137820335-137820336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572580216	chr7:137820386-137820387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541586031	chr7:137820411-137820412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	CNVD
Bladder cancer	21909424	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute promyelocytic leukemia	20824076	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137814400-137817000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:137817000-137817200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:137820200-137827800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:137822000-137822800	Enhancers	HepG2	liver
5	chr7:137822200-137822400	Enhancers	GM12878-XiMat	blood
6	chr7:137822400-137823400	Flanking Active TSS	GM12878-XiMat	blood
7	chr7:137822600-137822800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:137822800-137823200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:137822800-137827200	Weak transcription	HepG2	liver
10	chr7:137823000-137823200	Enhancers	H9 Cell Line	embryonic stem cell
11	chr7:137823000-137823400	Enhancers	Primary B cells from peripheral blood	blood
12	chr7:137823400-137823600	Enhancers	GM12878-XiMat	blood
13	chr7:137824400-137832800	Weak transcription	Right Atrium	heart
14	chr7:137827200-137830000	Enhancers	HepG2	liver
15	chr7:137827800-137828000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr7:137828800-137829800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr7:137830000-137835400	Weak transcription	HepG2	liver
18	chr7:137830800-137832000	Enhancers	Dnd41	blood
19	chr7:137831600-137831800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:137831600-137832200	Active TSS	Primary T cells from cord blood	blood
21	chr7:137831600-137832200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr7:137831600-137832600	Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr7:137831600-137832600	Enhancers	Fetal Thymus	thymus
24	chr7:137831800-137832000	Active TSS	K562	blood
25	chr7:137831800-137832200	Active TSS	Primary B cells from peripheral blood	blood
26	chr7:137831800-137832200	Active TSS	Thymus	Thymus
27	chr7:137831800-137832400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:137831800-137832400	Active TSS	Primary monocytes fromperipheralblood	blood
29	chr7:137831800-137832400	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr7:137831800-137832600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:137832000-137832400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:137832000-137832400	Active TSS	Monocytes-CD14+_RO01746	blood
33	chr7:137832000-137832600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:137832000-137832600	Flanking Active TSS	Dnd41	blood
35	chr7:137832000-137832600	Flanking Active TSS	K562	blood
36	chr7:137832200-137832600	Enhancers	Thymus	Thymus
37	chr7:137832400-137832600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr7:137832600-137832800	Enhancers	Dnd41	blood
39	chr7:137832800-137833000	Bivalent Enhancer	Dnd41	blood
40	chr7:137835400-137837800	Enhancers	HepG2	liver

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