Variant report

Variant	esv2761308
Chromosome Location	chr7:21091931-21109257
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	chr7:21085592..21088461-chr7:21092552..21094323,2	MCF-7	breast:
2	chr7:21098344..21100554-chr7:21116053..21118075,2	MCF-7	breast:

Extended variants
information (count: 756 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:756 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13242313	chr7:21091931-21091932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541857102	chr7:21091952-21091953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561827513	chr7:21091953-21091954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146685294	chr7:21092014-21092015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572342720	chr7:21092024-21092025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17143762	chr7:21092030-21092031	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs73684478	chr7:21092111-21092112	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs552764600	chr7:21092155-21092156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145193115	chr7:21092159-21092160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2041580	chr7:21092174-21092175	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs528059506	chr7:21092192-21092193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186823286	chr7:21092267-21092268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs386711081	chr7:21092282-21092283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577314572	chr7:21092289-21092290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2893021	chr7:21092294-21092295	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs563039824	chr7:21092298-21092299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs386711082	chr7:21092344-21092345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10247494	chr7:21092346-21092347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs552978493	chr7:21092435-21092436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77852698	chr7:21092439-21092440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7794410	chr7:21092459-21092460	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs192795751	chr7:21092481-21092482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17734302	chr7:21092494-21092495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs4719634	chr7:21092526-21092527	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs4719635	chr7:21092530-21092531	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs533375891	chr7:21092532-21092533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77780077	chr7:21092547-21092548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540853838	chr7:21092583-21092584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4719636	chr7:21092593-21092594	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs17734354	chr7:21092618-21092619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115560860	chr7:21092620-21092621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149109047	chr7:21092719-21092720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530593230	chr7:21092720-21092721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550711298	chr7:21092740-21092741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11980689	chr7:21092793-21092794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs143156500	chr7:21092829-21092830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184341220	chr7:21092830-21092831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566647191	chr7:21092851-21092852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535372840	chr7:21092872-21092873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189174221	chr7:21092874-21092875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555298910	chr7:21092905-21092906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575255587	chr7:21093005-21093006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544262697	chr7:21093068-21093069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549477748	chr7:21093090-21093091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565906326	chr7:21093102-21093103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375229326	chr7:21093134-21093135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557953688	chr7:21093162-21093163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534871081	chr7:21093193-21093194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs578068788	chr7:21093261-21093262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs193073931	chr7:21093262-21093263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21081800-21094200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:21083200-21098000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:21093600-21095600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:21093800-21094600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr7:21094200-21094400	Enhancers	H9 Cell Line	embryonic stem cell
6	chr7:21094200-21094600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:21094200-21094600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:21097800-21099600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:21098000-21098800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:21098800-21099400	Enhancers	NHEK	skin
11	chr7:21098800-21104200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:21099600-21100200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:21100200-21100600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:21104200-21105200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:21104200-21105200	Enhancers	HMEC	breast
16	chr7:21104400-21105200	Enhancers	A549	lung
17	chr7:21104800-21105200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:21105000-21106200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr7:21105200-21106800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:21105200-21111200	Weak transcription	HMEC	breast
21	chr7:21106200-21107000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr7:21106800-21107200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:21106800-21107400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:21106800-21107400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:21106800-21107400	Enhancers	NHEK	skin
26	chr7:21107000-21107200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr7:21107200-21115200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:21107400-21111200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:21108200-21108800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr7:21108400-21109200	Enhancers	Fetal Lung	lung
31	chr7:21109200-21110000	Weak transcription	Fetal Lung	lung

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