Variant report

Variant	esv3485489
Chromosome Location	chr5:177387861-177390219
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:177389362..177391423-chr5:177551819..177554278,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PROP1-2	chr5:177388524-177388667	XLOC_005099
2	lnc-FAM153C-2	chr5:177389519-177390144	XLOC_004670
3	lnc-FAM153C-2	chr5:177389362-177389432	XLOC_004670
4	lnc-PROP1-2	chr5:177388755-177388871	XLOC_005099

Extended variants
information (count: 188 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:188 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193087321	chr5:177387863-177387864	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535361593	chr5:177387887-177387888	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112703080	chr5:177387900-177387901	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79860650	chr5:177387928-177387929	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556709293	chr5:177387932-177387933	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575046629	chr5:177387942-177387943	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372190527	chr5:177387944-177387945	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542543839	chr5:177387989-177387990	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73339896	chr5:177388007-177388008	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs572086346	chr5:177388033-177388034	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185827250	chr5:177388042-177388043	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564052594	chr5:177388062-177388063	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188291751	chr5:177388076-177388077	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150188756	chr5:177388077-177388078	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115885590	chr5:177388096-177388097	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77096665	chr5:177388153-177388154	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs193054888	chr5:177388154-177388155	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs56205135	chr5:177388173-177388174	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201399577	chr5:177388176-177388177	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62398872	chr5:177388186-177388187	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs55921615	chr5:177388208-177388209	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375764813	chr5:177388216-177388217	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10040111	chr5:177388251-177388252	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs62398873	chr5:177388259-177388260	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375951449	chr5:177388268-177388269	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375476738	chr5:177388272-177388273	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs56261356	chr5:177388302-177388303	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs55726503	chr5:177388306-177388307	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs56292209	chr5:177388312-177388313	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs55828533	chr5:177388319-177388320	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs56349140	chr5:177388324-177388325	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10040126	chr5:177388337-177388338	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10039456	chr5:177388358-177388359	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565625316	chr5:177388367-177388368	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs55817810	chr5:177388380-177388381	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577081272	chr5:177388388-177388389	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs55908730	chr5:177388391-177388392	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7379269	chr5:177388395-177388396	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs56136034	chr5:177388397-177388398	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs71585658	chr5:177388410-177388411	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs184368013	chr5:177388423-177388424	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs376857507	chr5:177388431-177388432	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs62398875	chr5:177388438-177388439	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs62398876	chr5:177388440-177388441	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs570898663	chr5:177388452-177388453	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs538346267	chr5:177388453-177388454	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs556335876	chr5:177388467-177388468	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs111665366	chr5:177388474-177388475	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs367805249	chr5:177388475-177388476	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs78278650	chr5:177388517-177388518	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
Breast cancer	22522925	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177368200-177396400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:177371000-177393000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr5:177371600-177389600	Weak transcription	Brain Germinal Matrix	brain
4	chr5:177371800-177388200	Weak transcription	Gastric	stomach
5	chr5:177371800-177390200	Weak transcription	Primary T cells from cord blood	blood
6	chr5:177371800-177390800	Weak transcription	Ovary	ovary
7	chr5:177371800-177392800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr5:177371800-177394200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:177371800-177394200	Weak transcription	Right Ventricle	heart
10	chr5:177372200-177390000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:177372600-177388200	Weak transcription	Esophagus	oesophagus
12	chr5:177378000-177388400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr5:177379200-177392400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr5:177383800-177393600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr5:177385000-177389200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:177386400-177393600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:177386400-177394400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:177386600-177395600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:177386800-177388000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr5:177386800-177388000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr5:177386800-177388200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr5:177386800-177388200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:177386800-177389200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr5:177386800-177395800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:177387600-177388200	Strong transcription	Pancreas	Pancrea
26	chr5:177387600-177388800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:177387800-177388200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:177387800-177388200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr5:177387800-177388600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
30	chr5:177388000-177388400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
31	chr5:177388000-177388800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
32	chr5:177388200-177388400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
33	chr5:177388200-177388400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:177388200-177388400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:177388200-177388400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
36	chr5:177388200-177388400	Enhancers	Gastric	stomach
37	chr5:177388200-177388600	ZNF genes & repeats	Pancreas	Pancrea
38	chr5:177388200-177388800	ZNF genes & repeats	Esophagus	oesophagus
39	chr5:177388400-177388800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr5:177388400-177391200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr5:177388400-177397400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr5:177388400-177411400	Weak transcription	Gastric	stomach
43	chr5:177388600-177393200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr5:177388800-177390800	Weak transcription	Esophagus	oesophagus
45	chr5:177390000-177390200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr5:177390200-177390800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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