Variant report

Variant	esv3388835
Chromosome Location	chr5:177066446-177068444
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149871267	chr5:177066496-177066497	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs546968099	chr5:177066503-177066504	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs371279765	chr5:177066504-177066505	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs188750648	chr5:177066513-177066514	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs551298316	chr5:177066518-177066519	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs373787957	chr5:177066522-177066523	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs181573116	chr5:177066526-177066527	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs144882530	chr5:177066560-177066561	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs549262729	chr5:177066583-177066584	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs185331521	chr5:177066584-177066585	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs77130543	chr5:177066591-177066592	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs567547938	chr5:177066614-177066615	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs538491547	chr5:177066633-177066634	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs72815181	chr5:177066665-177066666	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs554133312	chr5:177066666-177066667	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs572487195	chr5:177066696-177066697	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs539880086	chr5:177066697-177066698	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs558071108	chr5:177066726-177066727	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs372331426	chr5:177066739-177066740	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs199593968	chr5:177066753-177066754	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs538338132	chr5:177066779-177066780	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs554638655	chr5:177066814-177066815	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs543595598	chr5:177066865-177066866	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs547602004	chr5:177066870-177066871	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs149295931	chr5:177066960-177066961	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs116404022	chr5:177066961-177066962	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs540713985	chr5:177066996-177066997	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs559264361	chr5:177067046-177067047	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs57512429	chr5:177067109-177067110	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs61604603	chr5:177067135-177067136	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs375511953	chr5:177067140-177067141	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs532254848	chr5:177067158-177067159	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs532890387	chr5:177067183-177067184	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs10073907	chr5:177067195-177067196	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs10072043	chr5:177067196-177067197	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs377751662	chr5:177067203-177067204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143298167	chr5:177067205-177067206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57364980	chr5:177067206-177067207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59924943	chr5:177067208-177067209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551431652	chr5:177067221-177067222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191506091	chr5:177067234-177067235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531803317	chr5:177067247-177067248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548617769	chr5:177067274-177067275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568499163	chr5:177067275-177067276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563351055	chr5:177067335-177067336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527662060	chr5:177067368-177067369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552249119	chr5:177067374-177067375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs36058642	chr5:177067404-177067405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11957442	chr5:177067430-177067431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549174656	chr5:177067440-177067441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	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
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
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Autism	20841430	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177046600-177068400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:177046600-177069200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:177046600-177069600	Weak transcription	Esophagus	oesophagus
4	chr5:177046800-177084000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:177047000-177079000	Weak transcription	Colon Smooth Muscle	Colon
6	chr5:177047200-177070800	Weak transcription	Pancreas	Pancrea
7	chr5:177047400-177075000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:177047800-177068200	Weak transcription	Fetal Intestine Large	intestine
9	chr5:177047800-177069000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:177047800-177080200	Weak transcription	Primary B cells from cord blood	blood
11	chr5:177048000-177069000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr5:177048400-177066800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:177048800-177083600	Weak transcription	Fetal Lung	lung
14	chr5:177051600-177069000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:177051800-177080200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:177052000-177083200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr5:177052000-177085600	Weak transcription	Gastric	stomach
18	chr5:177052200-177070000	Weak transcription	Primary T cells from cord blood	blood
19	chr5:177052800-177068200	Weak transcription	Spleen	Spleen
20	chr5:177052800-177070200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:177052800-177070200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr5:177052800-177070400	Weak transcription	Adipose Nuclei	Adipose
23	chr5:177052800-177076400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr5:177054000-177084600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr5:177054200-177066600	Weak transcription	Dnd41	blood
26	chr5:177054200-177069200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr5:177054200-177070000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr5:177054400-177068200	Weak transcription	Ovary	ovary
29	chr5:177054400-177068200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr5:177054400-177096000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr5:177059000-177068400	Weak transcription	Aorta	Aorta
32	chr5:177059400-177067600	Weak transcription	Thymus	Thymus
33	chr5:177059600-177068200	Weak transcription	Lung	lung
34	chr5:177065200-177067000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:177065800-177066600	ZNF genes & repeats	Fetal Stomach	stomach
36	chr5:177065800-177067000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:177065800-177067000	ZNF genes & repeats	Fetal Brain Female	brain
38	chr5:177066000-177067200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:177066200-177067000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:177066400-177066800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:177066400-177066800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr5:177066600-177067000	ZNF genes & repeats	Dnd41	blood
43	chr5:177066600-177067200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
44	chr5:177066600-177068200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:177066600-177069000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr5:177066800-177067200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:177066800-177083000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:177067000-177067800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:177067000-177070000	Weak transcription	Fetal Brain Female	brain
50	chr5:177067000-177071200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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