Variant report

Variant	esv275427
Chromosome Location	chr7:83597908-83606682
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:83604858..83606132-chr7:84650893..84651808,3	MCF-7	breast:
2	chr7:83605508..83606179-chr7:84652140..84652780,2	MCF-7	breast:
3	chr7:83605491..83606239-chr7:83817845..83818667,6	MCF-7	breast:
4	chr7:83605282..83606187-chr7:84649300..84650793,4	K562	blood:
5	chr7:83605355..83608289-chr7:84651623..84654249,2	K562	blood:
6	chr7:83605262..83606224-chr7:84652102..84653080,8	K562	blood:
7	chr7:83565232..83565801-chr7:83605263..83606020,2	MCF-7	breast:
8	chr7:83605077..83606197-chr7:83817893..83818565,3	MCF-7	breast:

No data

Extended variants
information (count: 331 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71557196	chr7:83597981-83597982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs71557197	chr7:83597984-83597985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530965121	chr7:83598022-83598023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563201094	chr7:83598040-83598041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182368760	chr7:83598048-83598049	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187747963	chr7:83598058-83598059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372033063	chr7:83598097-83598098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376319252	chr7:83598101-83598102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76840275	chr7:83598121-83598122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35953035	chr7:83598132-83598133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs397889610	chr7:83598142-83598143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34837012	chr7:83598143-83598144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144426314	chr7:83598189-83598190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546925450	chr7:83598195-83598196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192548838	chr7:83598212-83598213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184984044	chr7:83598220-83598221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190414383	chr7:83598228-83598229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192668295	chr7:83598229-83598230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113867619	chr7:83598231-83598232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188057574	chr7:83598238-83598239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180745453	chr7:83598240-83598241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185145921	chr7:83598251-83598252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560102839	chr7:83598317-83598318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573443273	chr7:83598359-83598360	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536072084	chr7:83598365-83598366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564238053	chr7:83598443-83598444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs60590322	chr7:83598462-83598463	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs375283473	chr7:83598542-83598543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545394646	chr7:83598576-83598577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563594680	chr7:83598591-83598592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555969712	chr7:83598632-83598633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs80232324	chr7:83598654-83598655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs5885387	chr7:83598672-83598673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397740245	chr7:83598680-83598681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115740475	chr7:83598682-83598683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561133108	chr7:83598768-83598769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528703079	chr7:83598805-83598806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76179870	chr7:83598848-83598849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575811845	chr7:83598872-83598873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189177669	chr7:83599000-83599001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532751885	chr7:83599021-83599022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114808805	chr7:83599051-83599052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569623928	chr7:83599187-83599188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537129722	chr7:83599200-83599201	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555540767	chr7:83599243-83599244	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79131141	chr7:83599253-83599254	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181896132	chr7:83599312-83599313	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs740948	chr7:83599335-83599336	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs376849737	chr7:83599344-83599345	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577881887	chr7:83599352-83599353	Weak transcription Strong transcription Enhancers	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
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
Breast cancer	22522925	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83588200-83605200	Weak transcription	Colon Smooth Muscle	Colon
2	chr7:83588800-83599400	Weak transcription	Fetal Brain Male	brain
3	chr7:83588800-83624600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:83589000-83605000	Weak transcription	Hela-S3	cervix
5	chr7:83589000-83654600	Weak transcription	Fetal Stomach	stomach
6	chr7:83589200-83616600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:83589400-83605200	Weak transcription	Fetal Intestine Small	intestine
8	chr7:83591000-83599200	Weak transcription	Fetal Brain Female	brain
9	chr7:83591000-83624200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:83591000-83633800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:83591200-83599200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr7:83591200-83599600	Weak transcription	Fetal Kidney	kidney
13	chr7:83591200-83607600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:83591200-83614400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr7:83591200-83615800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr7:83591200-83634200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr7:83591200-83638400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:83591200-83654600	Weak transcription	Fetal Muscle Leg	muscle
19	chr7:83591800-83604600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:83591800-83624600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:83592600-83599400	Weak transcription	Fetal Lung	lung
22	chr7:83592600-83626400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr7:83592800-83602000	Weak transcription	NHDF-Ad	bronchial
24	chr7:83592800-83603400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:83596400-83610400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:83596600-83598000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:83596600-83599800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:83598000-83602800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:83599200-83599800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr7:83599200-83599800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr7:83599200-83599800	Enhancers	Fetal Brain Female	brain
32	chr7:83599400-83599800	Enhancers	Fetal Brain Male	brain
33	chr7:83599400-83599800	Enhancers	Fetal Lung	lung
34	chr7:83599600-83600000	Enhancers	Fetal Kidney	kidney
35	chr7:83599800-83601200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:83599800-83603600	Weak transcription	Fetal Lung	lung
37	chr7:83599800-83611000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr7:83600000-83613000	Weak transcription	Fetal Kidney	kidney
39	chr7:83601200-83602000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:83602000-83603400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:83602000-83603400	Strong transcription	NHDF-Ad	bronchial
42	chr7:83602800-83606000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:83603400-83603600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:83603400-83603800	Weak transcription	NHDF-Ad	bronchial
45	chr7:83603400-83604400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:83603600-83604000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:83603600-83604400	Enhancers	Fetal Lung	lung
48	chr7:83603800-83604000	Strong transcription	NHDF-Ad	bronchial
49	chr7:83604000-83605600	Weak transcription	NHDF-Ad	bronchial
50	chr7:83604000-83607600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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