Variant report

Variant	esv1849212
Chromosome Location	chr5:119356669-119435037
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:119390926..119393461-chr5:119405366..119407503,2	K562	blood:
2	chr5:119425445..119427707-chr5:119431108..119433766,2	MCF-7	breast:
3	chr3:99997776..99998276-chr5:119383981..119384507,2	MCF-7	breast:
4	chr5:119398548..119400773-chr5:119411952..119413721,2	K562	blood:
5	chr5:119390926..119393461-chr5:119405366..119407503,2	K562	blood:
6	chr5:119398548..119400773-chr5:119411952..119413721,2	K562	blood:
7	chr5:119425445..119427707-chr5:119431108..119433766,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM170A-2	chr5:119375212-119375297	l_3004_chr5:119198853-119375297_testes

No data

Extended variants
information (count: 2096 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2096 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs255808	chr5:119356669-119356670	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563494409	chr5:119356672-119356673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532246885	chr5:119356712-119356713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139976175	chr5:119356755-119356756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142892441	chr5:119356771-119356772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528047776	chr5:119356795-119356796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150558376	chr5:119356797-119356798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567747636	chr5:119356834-119356835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs255809	chr5:119356849-119356850	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs371948992	chr5:119356860-119356861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550251156	chr5:119356862-119356863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139585587	chr5:119356865-119356866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74852830	chr5:119356896-119356897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192532650	chr5:119356917-119356918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566195415	chr5:119356929-119356930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535158534	chr5:119356975-119356976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554584668	chr5:119356977-119356978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184845495	chr5:119356982-119356983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574932590	chr5:119357044-119357045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543730584	chr5:119357085-119357086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111558177	chr5:119357088-119357089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75863634	chr5:119357111-119357112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79419948	chr5:119357113-119357114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113952138	chr5:119357134-119357135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201809558	chr5:119357151-119357152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536708999	chr5:119357159-119357160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576920599	chr5:119357175-119357176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368229678	chr5:119357180-119357181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372484631	chr5:119357187-119357188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551896069	chr5:119357197-119357198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539824741	chr5:119358804-119358805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564173029	chr5:119358807-119358808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs71586456	chr5:119358809-119358810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539943303	chr5:119358811-119358812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146777989	chr5:119358842-119358843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs62375633	chr5:119358845-119358846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191460700	chr5:119358861-119358862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139300239	chr5:119358862-119358863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555122907	chr5:119358869-119358870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569082671	chr5:119359046-119359047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75968294	chr5:119359050-119359051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559718941	chr5:119359056-119359057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs62375634	chr5:119359080-119359081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529900914	chr5:119359087-119359088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs60387165	chr5:119359093-119359094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376593524	chr5:119359112-119359113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540251742	chr5:119359135-119359136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182124221	chr5:119359156-119359157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187895045	chr5:119359158-119359159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542566584	chr5:119359165-119359166	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	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
Breast cancer	21858162	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
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:193 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119353200-119357200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:119358800-119359200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:119365800-119366800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:119366200-119366600	Enhancers	Fetal Stomach	stomach
5	chr5:119372400-119374000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr5:119372600-119373000	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr5:119372600-119373800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr5:119373000-119373600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr5:119373600-119374000	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr5:119373800-119375200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr5:119374000-119375200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr5:119374000-119375400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr5:119375200-119376000	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr5:119375200-119376000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr5:119375400-119376000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr5:119376000-119378600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr5:119376000-119379200	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr5:119377400-119377800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:119378600-119379600	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr5:119379200-119380200	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr5:119380200-119382600	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr5:119382600-119383200	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr5:119383200-119385000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr5:119385000-119385200	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr5:119385600-119385800	ZNF genes & repeats	Fetal Brain Male	brain
26	chr5:119385800-119388800	Weak transcription	Fetal Brain Male	brain
27	chr5:119388400-119389800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr5:119388600-119388800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:119388600-119390000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:119388600-119390400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:119388800-119389200	Enhancers	Fetal Brain Male	brain
32	chr5:119388800-119389400	Enhancers	Fetal Heart	heart
33	chr5:119388800-119389600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:119389000-119389200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr5:119389000-119389400	Enhancers	NHDF-Ad	bronchial
36	chr5:119389000-119389800	Enhancers	HSMMtube	muscle
37	chr5:119389200-119389600	Active TSS	Aorta	Aorta
38	chr5:119389200-119389800	Enhancers	Osteobl	bone
39	chr5:119389200-119390000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr5:119389400-119389800	Weak transcription	NHDF-Ad	bronchial
41	chr5:119389400-119390000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:119389400-119391400	Weak transcription	Fetal Heart	heart
43	chr5:119389600-119389800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:119389600-119390200	Enhancers	Muscle Satellite Cultured Cells	--
45	chr5:119389800-119390000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:119389800-119390000	Enhancers	NHDF-Ad	bronchial
47	chr5:119390000-119391400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:119390000-119392200	Weak transcription	NHDF-Ad	bronchial
49	chr5:119390200-119390400	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr5:119390400-119392000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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