Variant report

Variant	esv1831418
Chromosome Location	chr7:66629329-66645232
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	chr7:66641784..66642296-chr7:66836697..66837223,2	MCF-7	breast:

Extended variants
information (count: 631 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:631 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185248399	chr7:66629338-66629339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544246310	chr7:66629359-66629360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10156209	chr7:66629362-66629363	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs535709667	chr7:66629363-66629364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533082357	chr7:66629374-66629375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571856989	chr7:66629417-66629418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10155972	chr7:66629418-66629419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs67371707	chr7:66629440-66629441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190437530	chr7:66629471-66629472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577397270	chr7:66629489-66629490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543227129	chr7:66629524-66629525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs386714124	chr7:66629537-66629538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10155918	chr7:66629557-66629558	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs542207426	chr7:66629559-66629560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562059191	chr7:66629561-66629562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200442901	chr7:66629596-66629597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28729948	chr7:66629613-66629614	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
18	rs142152096	chr7:66629619-66629620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571083047	chr7:66629664-66629665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140831379	chr7:66629671-66629672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377363265	chr7:66629672-66629673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181897343	chr7:66629681-66629682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs151229861	chr7:66629724-66629725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570333139	chr7:66629730-66629731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557765870	chr7:66629760-66629761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535772066	chr7:66629801-66629802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10155983	chr7:66629804-66629805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs565323271	chr7:66629816-66629817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534352916	chr7:66629820-66629821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145073428	chr7:66629840-66629841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190991060	chr7:66629869-66629870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2844163	chr7:66629876-66629877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111401833	chr7:66629902-66629903	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
34	rs543610254	chr7:66629948-66629949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200794334	chr7:66629989-66629990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376604425	chr7:66629990-66629991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556830847	chr7:66629997-66629998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6978789	chr7:66630059-66630060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs2687050	chr7:66630064-66630065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs186434585	chr7:66630074-66630075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544210555	chr7:66630117-66630118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527664275	chr7:66630118-66630119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541408128	chr7:66630122-66630123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564582187	chr7:66630129-66630130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4718464	chr7:66630146-66630147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs550398471	chr7:66630173-66630174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570141602	chr7:66630208-66630209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148986412	chr7:66630250-66630251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370121066	chr7:66630359-66630360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10533244	chr7:66630390-66630391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
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
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
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	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
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	20823134	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66608800-66632600	Weak transcription	Ovary	ovary
2	chr7:66620600-66631000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:66621400-66631400	Weak transcription	Adipose Nuclei	Adipose
4	chr7:66621600-66672000	Weak transcription	Fetal Intestine Large	intestine
5	chr7:66627400-66629400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr7:66628600-66684600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr7:66629000-66650200	Weak transcription	Fetal Thymus	thymus
8	chr7:66636400-66636800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:66636400-66636800	Active TSS	GM12878-XiMat	blood
10	chr7:66636800-66637000	Weak transcription	GM12878-XiMat	blood
11	chr7:66637000-66637400	Enhancers	GM12878-XiMat	blood
12	chr7:66639000-66639800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:66640600-66677200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:66641600-66641800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:66641800-66654000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:66643000-66643200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:66643000-66643200	Enhancers	Pancreas	Pancrea
18	chr7:66643000-66660000	Weak transcription	Dnd41	blood
19	chr7:66643200-66643400	Enhancers	Fetal Lung	lung
20	chr7:66643200-66644400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:66643200-66654200	Weak transcription	Pancreas	Pancrea
22	chr7:66643400-66644400	Weak transcription	Fetal Lung	lung
23	chr7:66644000-66644600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr7:66644000-66644600	Enhancers	K562	blood
25	chr7:66644000-66644800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr7:66644200-66644400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr7:66644200-66644400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:66644200-66644600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr7:66644200-66644600	Enhancers	Fetal Muscle Leg	muscle
30	chr7:66644200-66644600	Enhancers	HMEC	breast
31	chr7:66644400-66644600	Enhancers	Fetal Intestine Small	intestine
32	chr7:66644400-66645000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:66644400-66645200	Enhancers	Fetal Lung	lung
34	chr7:66644400-66659400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr7:66644400-66683000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:66644600-66645600	Weak transcription	K562	blood
37	chr7:66644600-66647600	Weak transcription	HMEC	breast
38	chr7:66644600-66654400	Weak transcription	Fetal Muscle Leg	muscle
39	chr7:66644600-66659400	Weak transcription	Fetal Intestine Small	intestine
40	chr7:66644800-66654000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr7:66644800-66660200	Weak transcription	Adipose Nuclei	Adipose
42	chr7:66645000-66657600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:66645000-66660000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr7:66645200-66647400	Weak transcription	Fetal Lung	lung

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