Variant report

Variant	esv3337349
Chromosome Location	chr3:133322996-133323724
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:133322694..133325425-chr3:133337304..133340261,3	K562	blood:
2	chr3:133321691..133323863-chr3:133333136..133335332,2	MCF-7	breast:
3	chr3:133319765..133322733-chr3:133322772..133325091,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577563794	chr3:133323001-133323002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533681667	chr3:133323015-133323016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553890947	chr3:133323040-133323041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145897712	chr3:133323042-133323043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542817040	chr3:133323048-133323049	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148179943	chr3:133323050-133323051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142004831	chr3:133323082-133323083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551761130	chr3:133323084-133323085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371059131	chr3:133323107-133323108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150622145	chr3:133323127-133323128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138693543	chr3:133323133-133323134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372984962	chr3:133323139-133323140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547589260	chr3:133323140-133323141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184326025	chr3:133323144-133323145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552428327	chr3:133323156-133323157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11720825	chr3:133323178-133323179	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs188955682	chr3:133323182-133323183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549923260	chr3:133323187-133323188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7652043	chr3:133323223-133323224	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs539010505	chr3:133323251-133323252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527797168	chr3:133323260-133323261	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571192520	chr3:133323270-133323271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547527819	chr3:133323326-133323327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368494190	chr3:133323378-133323379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375389320	chr3:133323393-133323394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74909686	chr3:133323426-133323427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145267952	chr3:133323427-133323428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573736099	chr3:133323428-133323429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370674503	chr3:133323431-133323432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567746112	chr3:133323461-133323462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556440835	chr3:133323478-133323479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7610207	chr3:133323522-133323523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181059906	chr3:133323540-133323541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147189665	chr3:133323544-133323545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374090594	chr3:133323654-133323655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565152195	chr3:133323686-133323687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572370443	chr3:133323705-133323706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540979241	chr3:133323717-133323718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7642793	chr3:133323719-133323720	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Hailey-hailey disease	17597066	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133305800-133330600	Weak transcription	Fetal Intestine Small	intestine
2	chr3:133306400-133342800	Weak transcription	Colonic Mucosa	Colon
3	chr3:133307000-133328400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:133307200-133335800	Weak transcription	Pancreas	Pancrea
5	chr3:133307400-133326400	Weak transcription	Right Ventricle	heart
6	chr3:133307400-133331200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:133307400-133347200	Weak transcription	Brain Angular Gyrus	brain
8	chr3:133308000-133324400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:133308000-133335400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:133308200-133326400	Weak transcription	Fetal Brain Male	brain
11	chr3:133308200-133326400	Weak transcription	Fetal Kidney	kidney
12	chr3:133308200-133326400	Weak transcription	Ovary	ovary
13	chr3:133308200-133326600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr3:133308200-133326600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr3:133308200-133327400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr3:133308200-133330600	Weak transcription	Gastric	stomach
17	chr3:133308200-133342200	Weak transcription	Brain Substantia Nigra	brain
18	chr3:133308200-133356000	Weak transcription	Colon Smooth Muscle	Colon
19	chr3:133308400-133327400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr3:133308600-133323400	Weak transcription	Fetal Brain Female	brain
21	chr3:133308600-133323800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr3:133308600-133324600	Weak transcription	HepG2	liver
23	chr3:133308600-133325000	Weak transcription	Liver	Liver
24	chr3:133308600-133326000	Weak transcription	Fetal Lung	lung
25	chr3:133308600-133326400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr3:133308600-133326400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr3:133308600-133326400	Weak transcription	Small Intestine	intestine
28	chr3:133308600-133327400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr3:133308600-133347600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr3:133308600-133349200	Weak transcription	Esophagus	oesophagus
31	chr3:133308600-133351600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr3:133308600-133352200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr3:133308800-133323600	Weak transcription	Fetal Intestine Large	intestine
34	chr3:133308800-133323800	Weak transcription	Placenta	Placenta
35	chr3:133308800-133325800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr3:133308800-133325800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr3:133308800-133326000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr3:133308800-133326000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr3:133308800-133326400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr3:133308800-133326400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr3:133308800-133326400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr3:133308800-133326400	Weak transcription	Brain Hippocampus Middle	brain
43	chr3:133308800-133326600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:133308800-133326600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr3:133308800-133326600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr3:133308800-133327000	Weak transcription	Brain Anterior Caudate	brain
47	chr3:133308800-133328400	Weak transcription	Lung	lung
48	chr3:133309000-133326600	Weak transcription	Left Ventricle	heart
49	chr3:133309000-133326800	Weak transcription	Brain Germinal Matrix	brain
50	chr3:133309200-133325400	Weak transcription	Primary T cells fromperipheralblood	blood

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