Variant report

Variant	esv3394377
Chromosome Location	chr5:52945895-52949593
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:52937426..52940378-chr5:52949500..52951395,2	K562	blood:
2	chr5:52943856..52946285-chr5:52969298..52971904,2	K562	blood:
3	chr5:52949154..52951905-chr5:52952364..52954832,2	MCF-7	breast:

Extended variants
information (count: 113 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569144924	chr5:52945900-52945901	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145308507	chr5:52945922-52945923	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189043700	chr5:52945935-52945936	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576876495	chr5:52945948-52945949	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149186993	chr5:52945964-52945965	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs193141812	chr5:52946028-52946029	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11741008	chr5:52946029-52946030	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs542172991	chr5:52946044-52946045	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184286970	chr5:52946047-52946048	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558352899	chr5:52946070-52946071	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368461	chr5:52946155-52946156	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs72753660	chr5:52946179-52946180	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs79939749	chr5:52946198-52946199	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146865817	chr5:52946203-52946204	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187608635	chr5:52946278-52946279	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139341331	chr5:52946379-52946380	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568146614	chr5:52946458-52946459	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529530881	chr5:52946463-52946464	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372215	chr5:52946612-52946613	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs569108130	chr5:52946616-52946617	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143328017	chr5:52946673-52946674	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547774900	chr5:52946692-52946693	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34545733	chr5:52946812-52946813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377042	chr5:52946856-52946857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563401146	chr5:52946861-52946862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534736969	chr5:52946871-52946872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192854731	chr5:52946953-52946954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574517868	chr5:52946959-52946960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114555130	chr5:52947061-52947062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557337040	chr5:52947066-52947067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377532128	chr5:52947078-52947079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184231241	chr5:52947087-52947088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376949518	chr5:52947134-52947135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573493105	chr5:52947148-52947149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs118010840	chr5:52947188-52947189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528558099	chr5:52947245-52947246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72753662	chr5:52947361-52947362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs188808021	chr5:52947391-52947392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561465435	chr5:52947459-52947460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528787476	chr5:52947473-52947474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559345376	chr5:52947477-52947478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550565275	chr5:52947483-52947484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375446088	chr5:52947494-52947495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192070184	chr5:52947529-52947530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34235265	chr5:52947605-52947606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565301387	chr5:52947646-52947647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533694857	chr5:52947666-52947667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs449208	chr5:52947689-52947690	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs571634260	chr5:52947696-52947697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371950334	chr5:52947702-52947703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52904400-52966600	Weak transcription	Osteobl	bone
2	chr5:52920800-52978800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr5:52921600-52963400	Weak transcription	A549	lung
4	chr5:52925600-52961200	Weak transcription	Esophagus	oesophagus
5	chr5:52925800-52952000	Weak transcription	Colonic Mucosa	Colon
6	chr5:52926600-52948800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:52926800-52963600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr5:52927400-52961000	Weak transcription	Placenta	Placenta
9	chr5:52927800-52948600	Weak transcription	Pancreas	Pancrea
10	chr5:52927800-52961200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr5:52927800-52961200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr5:52927800-52961200	Weak transcription	Thymus	Thymus
13	chr5:52928000-52946000	Weak transcription	Gastric	stomach
14	chr5:52928000-52962200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:52929000-52981800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr5:52929200-52947600	Weak transcription	Right Ventricle	heart
17	chr5:52929400-52964600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr5:52933200-52951600	Weak transcription	Aorta	Aorta
19	chr5:52935200-52978000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:52936600-52948400	Weak transcription	Lung	lung
21	chr5:52937200-52963600	Weak transcription	NHLF	lung
22	chr5:52938200-52954800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:52938200-52970200	Weak transcription	NH-A	brain
24	chr5:52938400-52952400	Weak transcription	Small Intestine	intestine
25	chr5:52938400-52961000	Weak transcription	Fetal Stomach	stomach
26	chr5:52938400-52967600	Weak transcription	Fetal Kidney	kidney
27	chr5:52938600-52946600	Weak transcription	HUVEC	blood vessel
28	chr5:52938600-52971000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr5:52939600-52960600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:52939800-52946000	Weak transcription	Colon Smooth Muscle	Colon
31	chr5:52939800-52959600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:52940000-52982000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr5:52941200-52963400	Weak transcription	Hela-S3	cervix
34	chr5:52941400-52980200	Weak transcription	HepG2	liver
35	chr5:52941400-52985200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr5:52941600-52946000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:52942000-52946200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:52942000-52948000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr5:52942400-52948000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr5:52942400-52973400	Weak transcription	Fetal Heart	heart
41	chr5:52942600-52948000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr5:52942600-52962200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr5:52942800-52946000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr5:52943400-52946000	Strong transcription	Primary T cells from cord blood	blood
45	chr5:52943400-52946800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:52943400-52961000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr5:52943400-52961600	Weak transcription	Fetal Intestine Large	intestine
48	chr5:52943800-52946000	Strong transcription	Primary hematopoietic stem cells	blood
49	chr5:52944000-52969800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:52944200-52968200	Weak transcription	K562	blood

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