Variant report

Variant	esv3340758
Chromosome Location	chr3:47451598-47453046
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47451174..47454005-chr3:47464334..47466551,2	K562	blood:
2	chr3:47450663..47453382-chr3:47461645..47463185,2	MCF-7	breast:
3	chr3:47451733..47454199-chr3:47553714..47555598,2	K562	blood:
4	chr3:47434120..47436973-chr3:47451029..47453038,2	K562	blood:
5	chr3:47451769..47453360-chr3:47455312..47457238,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114650	chromatin interactions
ENSG00000163832	chromatin interactions

Extended variants
information (count: 103 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374638928	chr3:47451606-47451607	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs552266464	chr3:47451634-47451635	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs200557594	chr3:47451636-47451637	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs116305269	chr3:47451638-47451639	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs142254821	chr3:47451655-47451656	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs374555949	chr3:47451663-47451664	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs141149925	chr3:47451676-47451677	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs137987776	chr3:47451678-47451679	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs536166379	chr3:47451685-47451686	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs149495987	chr3:47451704-47451705	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs200707550	chr3:47451706-47451707	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs113487545	chr3:47451707-47451708	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs551150055	chr3:47451708-47451709	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs369303208	chr3:47451713-47451714	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs569455227	chr3:47451730-47451731	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs539513214	chr3:47451748-47451749	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs148149277	chr3:47451758-47451759	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs367972360	chr3:47451760-47451761	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs138076291	chr3:47451774-47451775	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs146159228	chr3:47451775-47451776	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs117855006	chr3:47451778-47451779	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs141964558	chr3:47451782-47451783	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs533927802	chr3:47451806-47451807	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs371335405	chr3:47451807-47451808	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs139305961	chr3:47451815-47451816	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs199522138	chr3:47451833-47451834	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs368706601	chr3:47451846-47451847	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs144025762	chr3:47451863-47451864	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs147851505	chr3:47451915-47451916	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs141082182	chr3:47451916-47451917	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs541722376	chr3:47451920-47451921	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs372632606	chr3:47451930-47451931	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs375853008	chr3:47451977-47451978	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs140769194	chr3:47451980-47451981	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs149516203	chr3:47452008-47452009	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs150118207	chr3:47452009-47452010	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs112829452	chr3:47452030-47452031	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs141350331	chr3:47452032-47452033	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs200030227	chr3:47452054-47452055	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs142297724	chr3:47452067-47452068	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs148096792	chr3:47452068-47452069	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs201855146	chr3:47452070-47452071	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs900689	chr3:47452087-47452088	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs6780013	chr3:47452118-47452119	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs552397269	chr3:47452144-47452145	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs149966020	chr3:47452151-47452152	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs144875102	chr3:47452152-47452153	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs528236908	chr3:47452158-47452159	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs546578935	chr3:47452165-47452166	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs561670942	chr3:47452174-47452175	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47426200-47462400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr3:47436000-47454600	Weak transcription	Hela-S3	cervix
3	chr3:47436200-47462000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr3:47436600-47454800	Weak transcription	Fetal Kidney	kidney
5	chr3:47437600-47453400	Weak transcription	Psoas Muscle	Psoas
6	chr3:47437800-47462800	Weak transcription	Fetal Brain Male	brain
7	chr3:47439200-47455000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr3:47441000-47476800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:47441400-47462400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:47442000-47452800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr3:47444800-47459400	Strong transcription	Liver	Liver
12	chr3:47445000-47462000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr3:47445000-47462400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:47445000-47462800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr3:47445600-47462800	Strong transcription	Fetal Brain Female	brain
16	chr3:47445800-47455600	Strong transcription	Primary B cells from peripheral blood	blood
17	chr3:47446000-47458400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:47446000-47462200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:47446000-47462800	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr3:47446200-47462000	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr3:47446200-47462800	Strong transcription	Dnd41	blood
22	chr3:47446400-47462800	Strong transcription	Colonic Mucosa	Colon
23	chr3:47446600-47456200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:47446600-47457400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:47446600-47462800	Strong transcription	Brain Germinal Matrix	brain
26	chr3:47446800-47459400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:47446800-47462000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr3:47446800-47462200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr3:47447000-47451600	Strong transcription	GM12878-XiMat	blood
30	chr3:47447000-47452600	Weak transcription	NHDF-Ad	bronchial
31	chr3:47447000-47453200	Weak transcription	NH-A	brain
32	chr3:47447000-47454400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr3:47447000-47462400	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr3:47447000-47462400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr3:47447000-47462400	Weak transcription	Fetal Heart	heart
36	chr3:47447000-47462400	Strong transcription	NHLF	lung
37	chr3:47447000-47462600	Strong transcription	Fetal Stomach	stomach
38	chr3:47447200-47457400	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr3:47447200-47462200	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr3:47447200-47462400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:47447400-47457400	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr3:47447400-47462200	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr3:47447400-47462400	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr3:47447400-47462600	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr3:47447600-47454600	Strong transcription	Brain Cingulate Gyrus	brain
46	chr3:47447600-47454800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr3:47447600-47458800	Strong transcription	Rectal Smooth Muscle	rectum
48	chr3:47447600-47459000	Strong transcription	Colon Smooth Muscle	Colon
49	chr3:47447600-47459200	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr3:47447800-47453600	Strong transcription	Brain Inferior Temporal Lobe	brain

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