Variant report

Variant	esv2761376
Chromosome Location	chr7:146287876-146334647
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:283786..286287-chr7:146321086..146324044,2	MCF-7	breast:
2	chr4:31335976..31336496-chr7:146308823..146309343,2	MCF-7	breast:
3	chr7:146299400..146301210-chr7:146301475..146303018,2	MCF-7	breast:
4	chr7:146299400..146301210-chr7:146301475..146303018,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167930	chromatin interactions

Extended variants
information (count: 386 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:386 , 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	rs531788144	chr7:146289026-146289027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541920776	chr7:146289163-146289164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187943418	chr7:146289197-146289198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527917331	chr7:146289226-146289227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190565680	chr7:146289322-146289323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547671046	chr7:146289330-146289331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183142920	chr7:146289332-146289333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561046403	chr7:146289361-146289362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376714922	chr7:146289372-146289373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533481235	chr7:146289418-146289419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552118921	chr7:146289440-146289441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370571860	chr7:146289472-146289473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs384474	chr7:146289517-146289518	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs537894486	chr7:146289540-146289541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554751921	chr7:146289573-146289574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187175607	chr7:146289580-146289581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192996746	chr7:146289598-146289599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111978873	chr7:146289599-146289600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554030276	chr7:146289604-146289605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577032695	chr7:146289613-146289614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545786450	chr7:146289619-146289620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556472406	chr7:146289635-146289636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576403054	chr7:146289743-146289744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77371140	chr7:146289747-146289748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571481121	chr7:146289757-146289758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541908430	chr7:146289780-146289781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs402278	chr7:146289787-146289788	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs527859976	chr7:146289801-146289802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541201453	chr7:146289811-146289812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564542467	chr7:146289818-146289819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550347866	chr7:146289842-146289843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550210739	chr7:146289884-146289885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74406259	chr7:146289885-146289886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149171554	chr7:146289906-146289907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548285878	chr7:146289927-146289928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376827397	chr7:146289957-146289958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143274193	chr7:146289985-146289986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374882	chr7:146290017-146290018	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs117398569	chr7:146290027-146290028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148302488	chr7:146290048-146290049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12671107	chr7:146290097-146290098	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs533551160	chr7:146290160-146290161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556223301	chr7:146290184-146290185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576010350	chr7:146290190-146290191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113844978	chr7:146304688-146304689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs180864435	chr7:146304732-146304733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577451366	chr7:146304740-146304741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111664960	chr7:146304748-146304749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563041267	chr7:146304756-146304757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563571566	chr7:146304807-146304808	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
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
Wilms tumour	21544195	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
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Epilepsy	20502679	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146289000-146290200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:146304600-146305000	Enhancers	Stomach Mucosa	stomach
3	chr7:146316600-146317400	Enhancers	Fetal Brain Female	brain
4	chr7:146321800-146323000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:146326000-146326400	Enhancers	Fetal Lung	lung
6	chr7:146330200-146331600	Enhancers	Fetal Brain Male	brain
7	chr7:146330400-146331200	Enhancers	Fetal Brain Female	brain
8	chr7:146331200-146334200	Enhancers	Brain Germinal Matrix	brain
9	chr7:146331600-146333200	Weak transcription	Fetal Brain Male	brain
10	chr7:146332000-146333200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:146332200-146333200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr7:146332200-146333400	Enhancers	Fetal Thymus	thymus
13	chr7:146332400-146332800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr7:146332400-146333000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:146332400-146333000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:146332400-146333200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:146332400-146333200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr7:146332400-146333200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr7:146332400-146333200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr7:146332600-146333200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr7:146332600-146333400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:146332800-146333200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:146333000-146333400	Enhancers	Thymus	Thymus
24	chr7:146333000-146333800	Enhancers	Fetal Kidney	kidney
25	chr7:146333200-146334000	Enhancers	Fetal Brain Male	brain
26	chr7:146333200-146334000	Enhancers	Fetal Stomach	stomach
27	chr7:146333200-146334800	Enhancers	Fetal Lung	lung
28	chr7:146333400-146338200	Weak transcription	Fetal Thymus	thymus

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