Variant report

Variant	esv3477466
Chromosome Location	chr7:111683355-111684255
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	chr7:111683205..111686070-chr7:111696191..111697758,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183152552	chr7:111683366-111683367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147009816	chr7:111683404-111683405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552786928	chr7:111683405-111683406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571211880	chr7:111683447-111683448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562042750	chr7:111683461-111683462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369498497	chr7:111683467-111683468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538544737	chr7:111683469-111683470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186008539	chr7:111683500-111683501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538055363	chr7:111683503-111683504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575212006	chr7:111683506-111683507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535844697	chr7:111683579-111683580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190521734	chr7:111683592-111683593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572837435	chr7:111683597-111683598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558919222	chr7:111683610-111683611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34746820	chr7:111683622-111683623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs367866431	chr7:111683659-111683660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540076708	chr7:111683710-111683711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs74763881	chr7:111683716-111683717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561355850	chr7:111683746-111683747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184106506	chr7:111683768-111683769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573360905	chr7:111683817-111683818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576581925	chr7:111683906-111683907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540415548	chr7:111683910-111683911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188606050	chr7:111683912-111683913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10259617	chr7:111683933-111683934	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs565369018	chr7:111683955-111683956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79316089	chr7:111683960-111683961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560667821	chr7:111683976-111683977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs527784475	chr7:111684031-111684032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552658458	chr7:111684089-111684090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35983561	chr7:111684148-111684149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79107237	chr7:111684173-111684174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76382028	chr7:111684200-111684201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Acute myeloid leukemia	16864856	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
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	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
Autism	19401682	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	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glioblastoma multiforme	20824129	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Congenital diaphragmatic hernia	21525063	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111673400-111689600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr7:111675200-111684200	Weak transcription	Psoas Muscle	Psoas
3	chr7:111677000-111693800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:111677400-111686600	Weak transcription	Left Ventricle	heart
5	chr7:111678800-111683400	Weak transcription	Brain Anterior Caudate	brain
6	chr7:111678800-111687800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:111678800-111701200	Weak transcription	Right Atrium	heart
8	chr7:111679000-111689600	Weak transcription	Liver	Liver
9	chr7:111680400-111684800	Weak transcription	Aorta	Aorta
10	chr7:111680600-111685800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:111681400-111693200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:111682200-111684800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:111682400-111684200	Enhancers	Brain Substantia Nigra	brain
14	chr7:111682600-111683800	Enhancers	Brain Hippocampus Middle	brain
15	chr7:111682600-111684000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr7:111682600-111684400	Enhancers	Brain Cingulate Gyrus	brain
17	chr7:111682800-111683800	Enhancers	Fetal Lung	lung
18	chr7:111682800-111685200	Enhancers	Brain Angular Gyrus	brain
19	chr7:111683000-111698400	Weak transcription	HUVEC	blood vessel
20	chr7:111683200-111690400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:111683400-111683800	Enhancers	Brain Anterior Caudate	brain
22	chr7:111683800-111685000	Weak transcription	Brain Hippocampus Middle	brain
23	chr7:111683800-111685600	Weak transcription	Brain Anterior Caudate	brain
24	chr7:111683800-111689800	Weak transcription	Fetal Lung	lung
25	chr7:111684200-111685200	Enhancers	Psoas Muscle	Psoas
26	chr7:111684200-111685400	Weak transcription	Brain Substantia Nigra	brain

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