Variant report

Variant	esv3353717
Chromosome Location	chr7:2917626-2921024
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	chr7:2915975..2917721-chr7:3231286..3232804,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AMZ1-4	chr7:2920040-2920279	NONHSAT118828

Extended variants
information (count: 164 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551099513	chr7:2917657-2917658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549684834	chr7:2917659-2917660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568901998	chr7:2917663-2917664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537839139	chr7:2917687-2917688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551497122	chr7:2917697-2917698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571205153	chr7:2917710-2917711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534010714	chr7:2917746-2917747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370560258	chr7:2917762-2917763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73035241	chr7:2917775-2917776	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs536168933	chr7:2917809-2917810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530324871	chr7:2917847-2917848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7784917	chr7:2917862-2917863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575275488	chr7:2917868-2917869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7808384	chr7:2917898-2917899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544240105	chr7:2917905-2917906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564609498	chr7:2917936-2917937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184918993	chr7:2917967-2917968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540837473	chr7:2917983-2917984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560704819	chr7:2918018-2918019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541861865	chr7:2918030-2918031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs17132764	chr7:2918053-2918054	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs114226251	chr7:2918083-2918084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6976564	chr7:2918097-2918098	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs531333354	chr7:2918110-2918111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189753498	chr7:2918117-2918118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571332534	chr7:2918118-2918119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs180875892	chr7:2918150-2918151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544347032	chr7:2918179-2918180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374518010	chr7:2918211-2918212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567169310	chr7:2918247-2918248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528016631	chr7:2918250-2918251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536028494	chr7:2918267-2918268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556048006	chr7:2918268-2918269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185420117	chr7:2918269-2918270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552578391	chr7:2918276-2918277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557832227	chr7:2918294-2918295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6976710	chr7:2918328-2918329	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs537398538	chr7:2918343-2918344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189334746	chr7:2918370-2918371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562108659	chr7:2918379-2918380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556235143	chr7:2918408-2918409	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs375383366	chr7:2918432-2918433	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs543204389	chr7:2918468-2918469	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs181991600	chr7:2918469-2918470	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs528338835	chr7:2918472-2918473	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs546402440	chr7:2918506-2918507	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs140714547	chr7:2918533-2918534	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs145852865	chr7:2918577-2918578	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs527275843	chr7:2918612-2918613	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs547130505	chr7:2918631-2918632	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	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
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Nasopharyngeal cancer	20548289	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2903600-2921600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:2903800-2919000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:2905200-2919000	Weak transcription	Fetal Brain Male	brain
4	chr7:2910600-2918800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:2910800-2918800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:2910800-2919000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:2911600-2917800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:2911600-2918600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:2911800-2917800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr7:2912600-2919800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:2913000-2918800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:2913200-2920800	Weak transcription	Right Atrium	heart
13	chr7:2913400-2918600	Weak transcription	Spleen	Spleen
14	chr7:2913600-2917800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr7:2913600-2919000	Weak transcription	Fetal Kidney	kidney
16	chr7:2914200-2918000	Weak transcription	HUVEC	blood vessel
17	chr7:2914200-2918200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr7:2914800-2917800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:2914800-2918000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:2914800-2918600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:2915000-2917800	Weak transcription	Primary T cells from cord blood	blood
22	chr7:2915000-2917800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:2916000-2918600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:2916000-2918800	Weak transcription	Brain Germinal Matrix	brain
25	chr7:2916200-2919600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr7:2916200-2919600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:2916200-2919600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:2916200-2920000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr7:2916400-2918600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr7:2916400-2918800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:2916400-2918800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr7:2916400-2920400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:2916400-2921600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr7:2916600-2919600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:2916600-2920000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:2916600-2920200	Weak transcription	HMEC	breast
37	chr7:2916800-2920000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:2917200-2919800	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr7:2917600-2920200	Enhancers	Fetal Thymus	thymus
40	chr7:2917800-2918600	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr7:2917800-2918800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:2917800-2919200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr7:2917800-2919400	Enhancers	Primary T cells fromperipheralblood	blood
44	chr7:2917800-2919400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr7:2917800-2919600	Enhancers	Primary T cells from cord blood	blood
46	chr7:2917800-2919600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr7:2917800-2919600	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr7:2917800-2919600	Enhancers	Dnd41	blood
49	chr7:2917800-2919800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr7:2917800-2920400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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