Variant report

Variant	esv2829876
Chromosome Location	chr7:79355196-79483480
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:78927254..78927762-chr7:79370740..79371579,2	MCF-7	breast:
2	chr7:79453655..79455160-chr7:79459736..79461374,2	K562	blood:
3	chr7:79412469..79414428-chr7:79417950..79420307,2	K562	blood:
4	chr7:79363150..79365302-chr7:79371609..79373122,2	K562	blood:
5	chr7:79453655..79455461-chr7:79459874..79462573,2	K562	blood:
6	chr7:79453655..79455160-chr7:79459736..79461374,2	K562	blood:
7	chr7:79453655..79455461-chr7:79459874..79462573,2	K562	blood:
8	chr7:79435821..79436734-chr7:79648179..79648888,3	MCF-7	breast:
9	chr7:79412469..79414428-chr7:79417950..79420307,2	K562	blood:
10	chr7:79363150..79365302-chr7:79371609..79373122,2	K562	blood:

No data

Extended variants
information (count: 2290 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2290 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1523843	chr7:79355196-79355197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184740336	chr7:79355261-79355262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553722538	chr7:79355327-79355328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188871015	chr7:79355328-79355329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561663070	chr7:79355329-79355330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs940305	chr7:79355332-79355333	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs940306	chr7:79355342-79355343	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs544378342	chr7:79355397-79355398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564286560	chr7:79355417-79355418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533027880	chr7:79355524-79355525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546718006	chr7:79355527-79355528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4585686	chr7:79355528-79355529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560149519	chr7:79355533-79355534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79549321	chr7:79355536-79355537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192597511	chr7:79355552-79355553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569510923	chr7:79355571-79355572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532711349	chr7:79355573-79355574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551526752	chr7:79355612-79355613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374929123	chr7:79355626-79355627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111279871	chr7:79355675-79355676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533984547	chr7:79355711-79355712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577889415	chr7:79355724-79355725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73708111	chr7:79355725-79355726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs181354772	chr7:79355727-79355728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4582497	chr7:79355745-79355746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552480302	chr7:79355750-79355751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566304012	chr7:79355775-79355776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184301821	chr7:79355928-79355929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534984153	chr7:79355929-79355930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369800418	chr7:79355931-79355932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs940307	chr7:79355970-79355971	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs539230311	chr7:79356040-79356041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568075365	chr7:79356049-79356050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188753036	chr7:79356060-79356061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368349181	chr7:79356072-79356073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34558425	chr7:79356099-79356100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544538285	chr7:79356131-79356132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73379264	chr7:79356148-79356149	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs577921099	chr7:79356188-79356189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540472535	chr7:79356220-79356221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs940308	chr7:79356222-79356223	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs529005284	chr7:79356264-79356265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542593182	chr7:79356274-79356275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562361008	chr7:79356286-79356287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532003815	chr7:79356305-79356306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551661185	chr7:79356338-79356339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181606903	chr7:79356366-79356367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138457471	chr7:79356436-79356437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34096609	chr7:79356442-79356443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547633260	chr7:79356445-79356446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Cancer	20164920	CNVD
Neurodevelopmental disorder	22521361	CNVD
Williams Syndrome	20824207	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:221 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79354000-79357200	Weak transcription	Fetal Kidney	kidney
2	chr7:79356000-79356600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:79361400-79361600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:79362600-79363400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:79363400-79364000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:79363600-79363800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:79363600-79364200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:79368400-79369000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:79370000-79372800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:79380400-79381000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:79391200-79391800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr7:79391400-79391800	Enhancers	Dnd41	blood
13	chr7:79391800-79396000	Weak transcription	Dnd41	blood
14	chr7:79396000-79396200	Enhancers	Dnd41	blood
15	chr7:79396200-79396800	Flanking Active TSS	Dnd41	blood
16	chr7:79396800-79397400	Enhancers	Dnd41	blood
17	chr7:79397200-79397800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:79397800-79399000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:79398000-79398600	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr7:79398600-79399000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr7:79398600-79399000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr7:79398600-79399200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr7:79398600-79402000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr7:79399000-79399400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:79399000-79399400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr7:79399000-79399400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:79399000-79399400	Enhancers	Fetal Lung	lung
28	chr7:79399000-79399600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr7:79399000-79399600	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr7:79399000-79401200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:79399200-79399600	Enhancers	Fetal Heart	heart
32	chr7:79399200-79400600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:79399200-79400800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:79399400-79404800	Weak transcription	Fetal Lung	lung
35	chr7:79399400-79411000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr7:79402000-79402400	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr7:79404800-79405800	Enhancers	Fetal Lung	lung
38	chr7:79405800-79406600	Weak transcription	Fetal Lung	lung
39	chr7:79407000-79407800	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr7:79407200-79407600	Enhancers	Fetal Heart	heart
41	chr7:79407200-79408200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr7:79407200-79408600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr7:79407600-79408200	Enhancers	Osteobl	bone
44	chr7:79407600-79408400	Enhancers	HMEC	breast
45	chr7:79407600-79410800	Weak transcription	Fetal Heart	heart
46	chr7:79407800-79408000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:79407800-79408400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:79407800-79408600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr7:79407800-79408800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:79407800-79409000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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