Variant report

Variant	esv3528866
Chromosome Location	chr7:104469766-104477614
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	chr7:104345772..104348271-chr7:104471773..104473637,2	MCF-7	breast:

Extended variants
information (count: 351 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:351 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564431152	chr7:104469772-104469773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199814222	chr7:104469773-104469774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541823939	chr7:104469781-104469782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562426046	chr7:104469782-104469783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142922431	chr7:104469805-104469806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532147873	chr7:104469821-104469822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548065724	chr7:104469823-104469824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6466025	chr7:104469835-104469836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568763171	chr7:104469860-104469861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192482951	chr7:104469870-104469871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556837648	chr7:104469892-104469893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182842832	chr7:104469909-104469910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539462377	chr7:104469915-104469916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553361948	chr7:104469925-104469926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187475341	chr7:104469926-104469927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562264505	chr7:104469927-104469928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13238286	chr7:104469933-104469934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544881142	chr7:104469947-104469948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs137912988	chr7:104469952-104469953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532104524	chr7:104469961-104469962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573346366	chr7:104469963-104469964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190588679	chr7:104469964-104469965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528164363	chr7:104469979-104469980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547926346	chr7:104469981-104469982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567864770	chr7:104469984-104469985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566459586	chr7:104469998-104469999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201487344	chr7:104470008-104470009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550423852	chr7:104470014-104470015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182416083	chr7:104470018-104470019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539757478	chr7:104470023-104470024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369184225	chr7:104470046-104470047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7784475	chr7:104470047-104470048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566906545	chr7:104470076-104470077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535533062	chr7:104470084-104470085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555906357	chr7:104470094-104470095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575874453	chr7:104470213-104470214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192297831	chr7:104470228-104470229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142364471	chr7:104470229-104470230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558411110	chr7:104470239-104470240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12668824	chr7:104470246-104470247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540961941	chr7:104470326-104470327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201895323	chr7:104470463-104470464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201153038	chr7:104470464-104470465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541480295	chr7:104470477-104470478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199586008	chr7:104470540-104470541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530588740	chr7:104470596-104470597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550347903	chr7:104470651-104470652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570667626	chr7:104470702-104470703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199917801	chr7:104470708-104470709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376988325	chr7:104470784-104470785	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	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
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
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
early-passage human iPS cells	21368824	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104440400-104482400	Weak transcription	Fetal Intestine Small	intestine
2	chr7:104461000-104470800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:104466000-104486800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:104474800-104475200	Enhancers	Pancreas	Pancrea
5	chr7:104476400-104503000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr7:104477000-104477800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:104477200-104478000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:104477400-104477800	Enhancers	Adipose Nuclei	Adipose
9	chr7:104477600-104477800	Enhancers	Colon Smooth Muscle	Colon

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