Variant report

Variant	esv1832396
Chromosome Location	chr3:68478762-68641509
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:68548311..68550713-chr3:68552898..68555029,2	MCF-7	breast:
2	chr3:68548311..68550713-chr3:68552898..68555029,2	MCF-7	breast:
3	chr3:68506304..68508381-chr3:68512161..68513963,2	MCF-7	breast:
4	chr3:68506304..68508381-chr3:68512161..68513963,2	MCF-7	breast:

Extended variants
information (count: 3381 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:3381 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6783583	chr3:68478811-68478812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536874806	chr3:68478827-68478828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556821515	chr3:68478974-68478975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188122730	chr3:68479002-68479003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191841785	chr3:68479005-68479006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577053380	chr3:68479025-68479026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183690836	chr3:68479040-68479041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562646835	chr3:68479052-68479053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531535805	chr3:68479058-68479059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138179766	chr3:68479062-68479063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561356629	chr3:68479063-68479064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530180159	chr3:68479092-68479093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546950616	chr3:68479134-68479135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143104296	chr3:68479136-68479137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539283972	chr3:68479194-68479195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552456148	chr3:68479215-68479216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186816041	chr3:68479216-68479217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370968637	chr3:68479258-68479259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538041459	chr3:68479266-68479267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554790928	chr3:68479290-68479291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574454429	chr3:68479301-68479302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375673638	chr3:68479325-68479326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533685963	chr3:68479364-68479365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6797678	chr3:68479365-68479366	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs144390761	chr3:68479373-68479374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192384771	chr3:68479423-68479424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148778685	chr3:68479541-68479542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542040223	chr3:68479553-68479554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561891790	chr3:68479586-68479587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185077143	chr3:68479601-68479602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538695991	chr3:68479610-68479611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373549690	chr3:68479635-68479636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190232423	chr3:68479700-68479701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560509762	chr3:68479725-68479726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116988796	chr3:68479747-68479748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551531089	chr3:68479764-68479765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs17047716	chr3:68479794-68479795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs370900669	chr3:68479816-68479817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200316270	chr3:68479817-68479818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1510357	chr3:68479852-68479853	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs142394324	chr3:68479898-68479899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548359887	chr3:68479909-68479910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56020540	chr3:68479916-68479917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533860195	chr3:68479922-68479923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553592172	chr3:68479947-68479948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570385135	chr3:68479962-68479963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181846881	chr3:68479980-68479981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558324031	chr3:68479981-68479982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4855474	chr3:68479987-68479988	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs576381366	chr3:68480106-68480107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:68475000-68479400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:68477800-68487400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:68479400-68479600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:68479600-68480000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:68480000-68482800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:68480400-68480800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr3:68480400-68480800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr3:68480400-68481000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:68482800-68483600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:68483200-68483600	Enhancers	Rectal Smooth Muscle	rectum
11	chr3:68483600-68484400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:68483600-68486200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr3:68483800-68486200	Weak transcription	Colon Smooth Muscle	Colon
14	chr3:68484400-68484600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr3:68484400-68485800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:68484600-68486200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr3:68485600-68486800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr3:68485800-68486000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:68486200-68486800	Enhancers	Rectal Smooth Muscle	rectum
20	chr3:68486200-68487000	Enhancers	Colon Smooth Muscle	Colon
21	chr3:68486200-68487200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr3:68486800-68489800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr3:68487200-68490200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr3:68487400-68488200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:68487800-68488000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:68489800-68490000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr3:68490000-68490600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr3:68490200-68491000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr3:68490600-68490800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr3:68490800-68497000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr3:68491000-68497000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr3:68494800-68495200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr3:68494800-68495200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr3:68497000-68497200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr3:68497000-68497400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr3:68497000-68497800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr3:68497000-68497800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr3:68497000-68498600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr3:68497400-68502800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr3:68502000-68503200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr3:68502800-68503400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr3:68507200-68508400	Enhancers	Fetal Stomach	stomach
43	chr3:68507400-68509200	Enhancers	NHDF-Ad	bronchial
44	chr3:68507800-68508400	Enhancers	Fetal Lung	lung
45	chr3:68508200-68508400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr3:68508200-68508400	Enhancers	NHLF	lung
47	chr3:68508400-68520000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr3:68509000-68509200	Enhancers	NHLF	lung
49	chr3:68513800-68514200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr3:68513800-68514400	Enhancers	Placenta Amnion	Placenta Amnion

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