Variant report

Variant	esv1793009
Chromosome Location	chr7:80483745-80490446
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:80488073..80490301-chr7:80516481..80518081,2	MCF-7	breast:
2	chr7:80487627..80489862-chr7:80494546..80496217,2	MCF-7	breast:
3	chr7:80483949..80488794-chr7:80543967..80547948,5	MCF-7	breast:
4	chr7:80489651..80491542-chr7:80548322..80549920,2	MCF-7	breast:
5	chr7:80473663..80476537-chr7:80486237..80488961,2	MCF-7	breast:
6	chr7:80484916..80486773-chr7:80487688..80489327,2	MCF-7	breast:
7	chr7:80484916..80486773-chr7:80487688..80489327,2	MCF-7	breast:
8	chr7:80490277..80491783-chr7:80492359..80494389,2	MCF-7	breast:
9	chr7:80489463..80491752-chr7:80494640..80498059,4	MCF-7	breast:
10	chr7:80470377..80473176-chr7:80481271..80483862,2	MCF-7	breast:
11	chr7:80487967..80490078-chr7:80500465..80502324,2	MCF-7	breast:
12	chr7:80487641..80491153-chr7:80504899..80508832,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000075223	chromatin interactions

Extended variants
information (count: 241 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:241 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568804430	chr7:80483767-80483768	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575515110	chr7:80483778-80483779	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377442211	chr7:80483928-80483929	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537835666	chr7:80483929-80483930	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557918574	chr7:80483935-80483936	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73374809	chr7:80483948-80483949	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs547103510	chr7:80483998-80483999	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs539800041	chr7:80484027-80484028	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs74366282	chr7:80484034-80484035	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs144994135	chr7:80484199-80484200	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs74425871	chr7:80484219-80484220	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs199786497	chr7:80484302-80484303	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571790338	chr7:80484305-80484306	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs546441762	chr7:80484351-80484352	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs553569186	chr7:80484357-80484358	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs148959947	chr7:80484415-80484416	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs189543067	chr7:80484448-80484449	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs180724563	chr7:80484463-80484464	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs376881373	chr7:80484494-80484495	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs557913549	chr7:80484507-80484508	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs185022514	chr7:80484539-80484540	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs573489214	chr7:80484568-80484569	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs542112148	chr7:80484572-80484573	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs374069602	chr7:80484595-80484596	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs531553084	chr7:80484696-80484697	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs545300080	chr7:80484714-80484715	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs147055017	chr7:80484789-80484790	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs540487197	chr7:80484811-80484812	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs138299681	chr7:80484834-80484835	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs75433389	chr7:80484868-80484869	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs566864050	chr7:80484876-80484877	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs529330630	chr7:80484877-80484878	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs373833374	chr7:80484944-80484945	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs577057646	chr7:80484955-80484956	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs549472702	chr7:80484956-80484957	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs3898290	chr7:80484994-80484995	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs569326298	chr7:80485062-80485063	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs538078115	chr7:80485169-80485170	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs562403571	chr7:80485179-80485180	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs767185	chr7:80485189-80485190	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs571653349	chr7:80485202-80485203	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs115247830	chr7:80485207-80485208	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs11765246	chr7:80485218-80485219	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs573596843	chr7:80485227-80485228	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs17154553	chr7:80485341-80485342	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs188664679	chr7:80485343-80485344	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs181197990	chr7:80485380-80485381	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs564270772	chr7:80485416-80485417	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs187147961	chr7:80485435-80485436	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs565179040	chr7:80485458-80485459	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	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
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21611746	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80427400-80483800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr7:80460400-80514600	Weak transcription	Left Ventricle	heart
3	chr7:80471800-80532600	Weak transcription	Fetal Stomach	stomach
4	chr7:80472600-80498400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:80473000-80485600	Weak transcription	Fetal Intestine Small	intestine
6	chr7:80473000-80487000	Weak transcription	Fetal Intestine Large	intestine
7	chr7:80474400-80492000	Weak transcription	Fetal Muscle Leg	muscle
8	chr7:80474400-80499400	Weak transcription	Psoas Muscle	Psoas
9	chr7:80476000-80487400	Weak transcription	HSMMtube	muscle
10	chr7:80476600-80487200	Weak transcription	HSMM	muscle
11	chr7:80477800-80487400	Weak transcription	NHEK	skin
12	chr7:80478000-80487400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr7:80478800-80486000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr7:80479200-80484800	Weak transcription	Colon Smooth Muscle	Colon
15	chr7:80480800-80494000	Weak transcription	Aorta	Aorta
16	chr7:80481600-80486000	Weak transcription	NHLF	lung
17	chr7:80481600-80487600	Weak transcription	Adipose Nuclei	Adipose
18	chr7:80481600-80487600	Weak transcription	NHDF-Ad	bronchial
19	chr7:80481800-80486000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:80481800-80486000	Weak transcription	HMEC	breast
21	chr7:80481800-80487000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:80481800-80487000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:80481800-80487200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:80481800-80487200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr7:80481800-80487400	Weak transcription	Osteobl	bone
26	chr7:80481800-80488000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:80482000-80485400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:80482200-80485800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:80482400-80486400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:80483000-80486200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr7:80483000-80486400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr7:80483200-80484200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:80483200-80484800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:80483200-80484800	Weak transcription	A549	lung
35	chr7:80483600-80483800	Enhancers	Gastric	stomach
36	chr7:80483600-80483800	Enhancers	Right Ventricle	heart
37	chr7:80483600-80485000	Enhancers	Placenta	Placenta
38	chr7:80483800-80484000	Enhancers	Placenta Amnion	Placenta Amnion
39	chr7:80483800-80486200	Weak transcription	Gastric	stomach
40	chr7:80484200-80487000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:80484600-80484800	Enhancers	Placenta Amnion	Placenta Amnion
42	chr7:80484800-80485000	Enhancers	Colon Smooth Muscle	Colon
43	chr7:80484800-80486000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:80484800-80487400	Enhancers	A549	lung
45	chr7:80484800-80506200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr7:80485000-80485400	Weak transcription	Colon Smooth Muscle	Colon
47	chr7:80485400-80485600	Weak transcription	Fetal Brain Male	brain
48	chr7:80485400-80486400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:80485400-80486600	Enhancers	Colon Smooth Muscle	Colon
50	chr7:80485600-80486800	Enhancers	Fetal Brain Male	brain

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