Variant report

Variant	esv2756992
Chromosome Location	chr3:60993915-61052642
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:61010096..61013094-chr3:61013770..61016716,3	K562	blood:
2	chr3:61010096..61013094-chr3:61013770..61016716,3	K562	blood:
3	chr3:61014046..61015931-chr3:61016570..61019029,2	K562	blood:
4	chr3:61014046..61015931-chr3:61016570..61019029,2	K562	blood:

Extended variants
information (count: 2285 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:2285 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4129352	chr3:60993915-60993916	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184405345	chr3:60993934-60993935	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs73104218	chr3:60994051-60994052	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs148448592	chr3:60994053-60994054	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs144104374	chr3:60994069-60994070	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs564208003	chr3:60994082-60994083	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs375881494	chr3:60994120-60994121	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs531659896	chr3:60994144-60994145	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs551931686	chr3:60994153-60994154	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs368968412	chr3:60994203-60994204	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs564605350	chr3:60994211-60994212	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs188717210	chr3:60994216-60994217	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs145917094	chr3:60994234-60994235	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs368141038	chr3:60994235-60994236	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs528909538	chr3:60994245-60994246	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs181109170	chr3:60994255-60994256	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs184543340	chr3:60994326-60994327	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs146495323	chr3:60994463-60994464	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs7617339	chr3:60994542-60994543	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs367561276	chr3:60994571-60994572	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs368759723	chr3:60994572-60994573	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs570251144	chr3:60994576-60994577	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs537507319	chr3:60994579-60994580	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs1665	chr3:60994583-60994584	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs567405611	chr3:60994588-60994589	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs76235853	chr3:60994608-60994609	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141089322	chr3:60994612-60994613	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372274743	chr3:60994644-60994645	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553518068	chr3:60994668-60994669	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75191110	chr3:60994685-60994686	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556668526	chr3:60994696-60994697	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557371976	chr3:60994724-60994725	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576248397	chr3:60994756-60994757	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543709633	chr3:60994814-60994815	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561704978	chr3:60994839-60994840	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182270642	chr3:60994937-60994938	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533263547	chr3:60994938-60994939	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111380082	chr3:60994952-60994953	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575289970	chr3:60994983-60994984	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377136199	chr3:60995005-60995006	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs554935287	chr3:60995018-60995019	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs539510166	chr3:60995021-60995022	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs76232965	chr3:60995022-60995023	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs532911218	chr3:60995055-60995056	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs73104223	chr3:60995081-60995082	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs80308601	chr3:60995124-60995125	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs531067465	chr3:60995130-60995131	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs11714170	chr3:60995176-60995177	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs539809168	chr3:60995254-60995255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549670798	chr3:60995263-60995264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21785460	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
Prostate cancer	18632612	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Urothelial cell carcinoma	18451213	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Mental retardation	17847001	CNVD
Neuroticism	17667963	CNVD
Squamous cell cancer	19047905	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Autism	22102821	CNVD
Prostate cancer	19363497	CNVD
Malaria	21533027	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60978400-60997600	Weak transcription	Pancreas	Pancrea
2	chr3:60990600-60994600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:60991600-60994200	Weak transcription	Fetal Heart	heart
4	chr3:60993200-60994600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:60993200-60995000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr3:60993200-60995200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:60993200-60995400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr3:60993400-60994400	Enhancers	Primary B cells from cord blood	blood
9	chr3:60993400-60994400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr3:60993400-60995000	Enhancers	Brain Hippocampus Middle	brain
11	chr3:60993400-60995000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr3:60993600-60995000	Enhancers	Primary B cells from peripheral blood	blood
13	chr3:60993600-60995000	Enhancers	Brain Anterior Caudate	brain
14	chr3:60993600-60995200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr3:60993800-60994200	Enhancers	Fetal Brain Female	brain
16	chr3:60993800-60994400	Enhancers	Brain Cingulate Gyrus	brain
17	chr3:60993800-60994600	Enhancers	Brain Angular Gyrus	brain
18	chr3:60993800-60995000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:60993800-60995000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr3:60993800-60995200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr3:60993800-60995200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:60993800-60995200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr3:60993800-60995200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr3:60994000-60994800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr3:60994000-60995000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:60994000-60995000	Enhancers	Brain Germinal Matrix	brain
27	chr3:60994000-60995000	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr3:60994000-60995000	Enhancers	Brain Substantia Nigra	brain
29	chr3:60994000-60995200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr3:60994000-60995200	Enhancers	Primary hematopoietic stem cells	blood
31	chr3:60994200-60994400	Enhancers	Fetal Heart	heart
32	chr3:60994200-60994600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:60994400-60994600	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr3:60994400-60994600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr3:60994400-60994800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr3:60994400-60995000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr3:60994400-60995000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr3:60994400-60995200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr3:60994400-60995200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr3:60994600-60994800	Active TSS	Primary B cells from cord blood	blood
41	chr3:60994600-60995000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr3:60994600-60995000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:60994600-60995000	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr3:60994600-60995000	Active TSS	Brain Cingulate Gyrus	brain
45	chr3:60994600-60995200	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr3:60994600-60995600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:60994800-60995000	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr3:60994800-60995000	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr3:60995000-60995200	Active TSS	Brain Angular Gyrus	brain
50	chr3:60995000-60995400	Enhancers	Monocytes-CD14+_RO01746	blood

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