Variant report

Variant	esv3476741
Chromosome Location	chr7:127054456-127054803
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:127052734-127055199..7:127225864-127233104	Hela-S3	cervix:
2	chr7:127047814..127051155-chr7:127051314..127054818,3	MCF-7	breast:
3	7:126890676-126899918..7:127052734-127055199	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000106328	chromatin interactions
ENSG00000179603	chromatin interactions
ENSG00000004059	chromatin interactions

Extended variants
information (count: 11 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568562472	chr7:127054478-127054479	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs535954117	chr7:127054500-127054501	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs112945524	chr7:127054573-127054574	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs569767035	chr7:127054597-127054598	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs550307063	chr7:127054611-127054612	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs568589409	chr7:127054616-127054617	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs549990915	chr7:127054661-127054662	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs558549605	chr7:127054687-127054688	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs570757590	chr7:127054708-127054709	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs138744749	chr7:127054760-127054761	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs4731358	chr7:127054787-127054788	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:83)

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
Autism	22495311	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
Endometrioid adenocarcinoma	16974079	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
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127046600-127058400	Weak transcription	Pancreas	Pancrea
2	chr7:127051400-127058600	Enhancers	Primary B cells from peripheral blood	blood
3	chr7:127052400-127055600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr7:127052800-127058000	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr7:127053000-127054600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr7:127053000-127056000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr7:127053200-127055400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr7:127053200-127055400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:127053200-127056000	Enhancers	Primary hematopoietic stem cells	blood
10	chr7:127053400-127054600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr7:127053600-127054600	Flanking Active TSS	GM12878-XiMat	blood
12	chr7:127053600-127054800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr7:127053600-127055000	Enhancers	Duodenum Mucosa	Duodenum
14	chr7:127053600-127056200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr7:127053800-127054600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:127053800-127054800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:127053800-127054800	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr7:127053800-127055000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr7:127053800-127055200	Enhancers	Fetal Thymus	thymus
20	chr7:127054000-127054600	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr7:127054000-127054600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:127054200-127054600	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr7:127054200-127054600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:127054200-127055400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr7:127054400-127054600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr7:127054400-127054800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:127054400-127054800	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr7:127054400-127055200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr7:127054400-127055600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
30	chr7:127054600-127054800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:127054600-127054800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr7:127054600-127055000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:127054600-127055400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
34	chr7:127054600-127055400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:127054600-127055600	Enhancers	GM12878-XiMat	blood
36	chr7:127054600-127056800	Enhancers	Primary T cells from cord blood	blood
37	chr7:127054600-127058400	Enhancers	Primary B cells from cord blood	blood
38	chr7:127054800-127055000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:127054800-127055000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr7:127054800-127055400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr7:127054800-127055600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:127054800-127056000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr7:127054800-127058000	Enhancers	Primary T helper cells PMA-I stimulated	--

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