Variant report

Variant	esv3349983
Chromosome Location	chr7:83715016-83717114
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	chr7:83702133..83704652-chr7:83714505..83716977,2	K562	blood:

Extended variants
information (count: 98 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531307775	chr7:83715094-83715095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188554783	chr7:83715138-83715139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561773074	chr7:83715166-83715167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192865725	chr7:83715207-83715208	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs115256673	chr7:83715208-83715209	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs183128927	chr7:83715257-83715258	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs187061285	chr7:83715289-83715290	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs191111062	chr7:83715303-83715304	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs551820829	chr7:83715314-83715315	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs183658426	chr7:83715390-83715391	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs149517329	chr7:83715476-83715477	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs144140234	chr7:83715489-83715490	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs374078356	chr7:83715503-83715504	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs2527035	chr7:83715504-83715505	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs574201751	chr7:83715542-83715543	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs2527036	chr7:83715568-83715569	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs553288781	chr7:83715585-83715586	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs62477260	chr7:83715592-83715593	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs13223338	chr7:83715597-83715598	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs563933854	chr7:83715614-83715615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148701387	chr7:83715713-83715714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189295661	chr7:83715745-83715746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35749536	chr7:83715757-83715758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35663910	chr7:83715759-83715760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200996530	chr7:83715774-83715775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs55639143	chr7:83715775-83715776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377274662	chr7:83715777-83715778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185202383	chr7:83715780-83715781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs55752566	chr7:83715781-83715782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs56393029	chr7:83715785-83715786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201648121	chr7:83715786-83715787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13245383	chr7:83715787-83715788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201338911	chr7:83715791-83715792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113776211	chr7:83715803-83715804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190129376	chr7:83715815-83715816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs62477261	chr7:83715818-83715819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs62477262	chr7:83715821-83715822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184637582	chr7:83715833-83715834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs5015457	chr7:83715835-83715836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs62477263	chr7:83715838-83715839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs62477280	chr7:83715840-83715841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146665924	chr7:83715843-83715844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs62477281	chr7:83715856-83715857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74191010	chr7:83715858-83715859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78690572	chr7:83715860-83715861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369804801	chr7:83715861-83715862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373280204	chr7:83715863-83715864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201567389	chr7:83715871-83715872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371290213	chr7:83715874-83715875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs199509037	chr7:83715878-83715879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83698600-83715400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr7:83703200-83715200	Weak transcription	NH-A	brain
3	chr7:83703600-83715400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr7:83707400-83721600	Weak transcription	Fetal Brain Male	brain
5	chr7:83708000-83718000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:83711800-83720800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:83714200-83715600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:83714200-83715600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:83714200-83715600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr7:83714200-83715600	Enhancers	A549	lung
11	chr7:83714200-83715800	Enhancers	Fetal Kidney	kidney
12	chr7:83714400-83715400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:83714400-83715400	Enhancers	Osteobl	bone
14	chr7:83714400-83715600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:83714400-83715600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr7:83714400-83715600	Enhancers	Colon Smooth Muscle	Colon
17	chr7:83714400-83715600	Enhancers	Fetal Heart	heart
18	chr7:83714400-83715600	Enhancers	Fetal Lung	lung
19	chr7:83714400-83715600	Enhancers	NHLF	lung
20	chr7:83714400-83715800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:83714400-83715800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:83714600-83715600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:83714600-83715600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr7:83714600-83715600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr7:83714600-83715600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr7:83714600-83715600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:83714600-83715600	Enhancers	Rectal Smooth Muscle	rectum
28	chr7:83714600-83715600	Enhancers	NHDF-Ad	bronchial
29	chr7:83714800-83715200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr7:83714800-83718200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr7:83714800-83720000	Weak transcription	Dnd41	blood
32	chr7:83715000-83715200	Enhancers	Brain Anterior Caudate	brain
33	chr7:83715000-83715200	Enhancers	Brain Substantia Nigra	brain
34	chr7:83715000-83715400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:83715000-83715400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:83715000-83715600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:83715200-83715600	Enhancers	H9 Cell Line	embryonic stem cell
38	chr7:83715200-83715600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr7:83715200-83715600	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr7:83715200-83715600	Enhancers	Brain Cingulate Gyrus	brain
41	chr7:83715200-83715600	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr7:83715200-83715600	Enhancers	NH-A	brain
43	chr7:83715400-83715600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:83715400-83715600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:83715400-83715600	Enhancers	Brain Angular Gyrus	brain
46	chr7:83715400-83715600	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr7:83715400-83715600	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr7:83715400-83715600	Enhancers	Right Atrium	heart
49	chr7:83715400-83716200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr7:83715400-83718000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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