Variant report

Variant	esv3336037
Chromosome Location	chr7:116662950-116663173
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:116591200..116595164-chr7:116659811..116663168,5	K562	blood:
2	chr7:116662894..116664584-chr7:116677550..116680143,2	K562	blood:
3	chr7:116661033..116663494-chr7:116665677..116669530,5	K562	blood:
4	chr7:116503087..116504687-chr7:116661264..116663427,2	K562	blood:

Variant related genes	Relation type
ENSG00000227199	chromatin interactions
ENSG00000004866	chromatin interactions
ENSG00000214188	chromatin interactions

Extended variants
information (count: 7 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11764134	chr7:116663029-116663030	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs571390864	chr7:116663045-116663046	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs192970116	chr7:116663071-116663072	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs182921539	chr7:116663099-116663100	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs556697678	chr7:116663104-116663105	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs574506447	chr7:116663148-116663149	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs542023025	chr7:116663153-116663154	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Squamous cell cancer	20885788	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Glioblastoma multiforme	21922591	CNVD
Sudden cardiac death	19188705	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	21569311	CNVD
Cancer	20164920	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116655600-116663000	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr7:116657400-116663000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr7:116659600-116663000	Active TSS	Brain Anterior Caudate	brain
4	chr7:116659600-116663400	Active TSS	Brain Cingulate Gyrus	brain
5	chr7:116660000-116663600	Active TSS	Aorta	Aorta
6	chr7:116660000-116663600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:116660000-116663800	Active TSS	Brain Hippocampus Middle	brain
8	chr7:116660000-116664400	Active TSS	Fetal Brain Female	brain
9	chr7:116660200-116663000	Active TSS	HSMMtube	muscle
10	chr7:116660400-116663000	Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr7:116660600-116663400	Active TSS	NH-A	brain
12	chr7:116660800-116666600	Weak transcription	Right Ventricle	heart
13	chr7:116661000-116663800	Enhancers	K562	blood
14	chr7:116661000-116664800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:116661000-116664800	Weak transcription	NHDF-Ad	bronchial
16	chr7:116661000-116664800	Weak transcription	Osteobl	bone
17	chr7:116661000-116665600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:116661000-116666000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:116661000-116666600	Weak transcription	Ovary	ovary
20	chr7:116661000-116666600	Weak transcription	Pancreas	Pancrea
21	chr7:116661000-116666600	Weak transcription	Right Atrium	heart
22	chr7:116661000-116669400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:116661200-116664800	Weak transcription	HUVEC	blood vessel
24	chr7:116661400-116663000	Weak transcription	Fetal Kidney	kidney
25	chr7:116661400-116663200	Flanking Active TSS	Fetal Lung	lung
26	chr7:116661400-116663600	Enhancers	Brain Substantia Nigra	brain
27	chr7:116661400-116666800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:116661600-116663600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:116661600-116663800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:116661600-116663800	Enhancers	Fetal Heart	heart
31	chr7:116661600-116670800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:116661800-116663800	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr7:116661800-116668600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr7:116662000-116665400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:116662000-116675200	Weak transcription	Fetal Stomach	stomach
36	chr7:116662200-116665400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:116662400-116663000	Weak transcription	Fetal Muscle Leg	muscle
38	chr7:116662400-116663600	Enhancers	Colon Smooth Muscle	Colon
39	chr7:116662400-116663600	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr7:116662400-116663600	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr7:116662400-116663800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr7:116662600-116663200	Flanking Active TSS	Brain Germinal Matrix	brain
43	chr7:116662600-116663600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:116662600-116663600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:116662600-116664200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr7:116662800-116663200	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr7:116662800-116663600	Flanking Active TSS	Fetal Brain Male	brain
48	chr7:116662800-116663800	Enhancers	Primary T cells from cord blood	blood
49	chr7:116662800-116663800	Active TSS	Brain Angular Gyrus	brain
50	chr7:116662800-116663800	Flanking Active TSS	GM12878-XiMat	blood

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