Variant report

Variant	nsv1028516
Chromosome Location	chr5:151896509-151930647
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:151912240..151912915-chr5:153135713..153136561,3	MCF-7	breast:
2	chr5:151911805..151912641-chr5:153344389..153345199,3	MCF-7	breast:
3	chr5:151917029..151917529-chr8:72739866..72740493,2	K562	blood:
4	chr5:22478983..22479484-chr5:151916735..151917543,2	MCF-7	breast:
5	chr5:151908575..151910710-chr5:151911212..151913134,2	MCF-7	breast:
6	chr5:151908575..151910710-chr5:151911212..151913134,2	MCF-7	breast:
7	chr5:151912318..151913241-chr5:153344663..153345462,5	K562	blood:
8	chr5:151912365..151912880-chr5:153784343..153784915,2	MCF-7	breast:
9	chr5:151912337..151912919-chr5:153344415..153345399,3	MCF-7	breast:
10	chr5:151911947..151912904-chr5:151940236..151940763,2	MCF-7	breast:
11	chr5:151928150..151931020-chr5:152818556..152820220,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000235531	chromatin interactions

Extended variants
information (count: 875 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:875 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562663448	chr5:151902425-151902426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530924856	chr5:151902431-151902432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543121146	chr5:151902489-151902490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141058629	chr5:151902493-151902494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528485102	chr5:151902528-151902529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187339104	chr5:151902549-151902550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114535104	chr5:151902590-151902591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547191796	chr5:151902605-151902606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532797272	chr5:151902661-151902662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550906155	chr5:151902673-151902674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565794859	chr5:151902706-151902707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13436634	chr5:151902735-151902736	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs535994029	chr5:151902773-151902774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554230870	chr5:151902786-151902787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566173477	chr5:151902805-151902806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558127136	chr5:151902828-151902829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150266923	chr5:151902831-151902832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6875911	chr5:151902834-151902835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4958552	chr5:151902856-151902857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs556113079	chr5:151902881-151902882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537731449	chr5:151902929-151902930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543183655	chr5:151902963-151902964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117632530	chr5:151902983-151902984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528545895	chr5:151903074-151903075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs578037699	chr5:151903107-151903108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191993102	chr5:151903137-151903138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114443132	chr5:151903163-151903164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4958553	chr5:151903171-151903172	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs569388230	chr5:151903191-151903192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182615862	chr5:151903198-151903199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187665531	chr5:151903199-151903200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566234799	chr5:151903210-151903211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142265911	chr5:151903256-151903257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574392220	chr5:151903269-151903270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558283802	chr5:151903273-151903274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10463245	chr5:151903277-151903278	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs537783746	chr5:151903280-151903281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4958554	chr5:151903294-151903295	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs190104132	chr5:151903299-151903300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535648859	chr5:151903300-151903301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182599783	chr5:151903317-151903318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573387134	chr5:151903369-151903370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs4958555	chr5:151903379-151903380	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs560441053	chr5:151903409-151903410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545610374	chr5:151903453-151903454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146168274	chr5:151903457-151903458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187342073	chr5:151903461-151903462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs72795336	chr5:151903469-151903470	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs137887526	chr5:151903480-151903481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530283794	chr5:151903515-151903516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Intellectual disability	22102821	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	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
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Crohn''s disease	20106866	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151902400-151902600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:151902600-151907000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:151903200-151904200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:151903400-151904200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:151903600-151904200	Enhancers	HMEC	breast
6	chr5:151906000-151906200	Enhancers	Aorta	Aorta
7	chr5:151906000-151906400	Enhancers	Spleen	Spleen
8	chr5:151906400-151906800	Weak transcription	Spleen	Spleen
9	chr5:151906600-151906800	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr5:151906600-151907000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr5:151906600-151907200	Enhancers	Small Intestine	intestine
12	chr5:151906600-151908000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:151906600-151908200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr5:151906800-151907000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:151906800-151907000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr5:151906800-151907000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:151906800-151907000	Enhancers	Duodenum Mucosa	Duodenum
18	chr5:151906800-151907000	Enhancers	Right Ventricle	heart
19	chr5:151906800-151907000	Enhancers	Spleen	Spleen
20	chr5:151906800-151907200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr5:151906800-151907200	Enhancers	Adipose Nuclei	Adipose
22	chr5:151906800-151907200	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr5:151906800-151907200	Enhancers	Right Atrium	heart
24	chr5:151906800-151907200	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr5:151906800-151907200	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr5:151906800-151907400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr5:151906800-151907400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:151906800-151907400	Enhancers	Fetal Lung	lung
29	chr5:151906800-151907400	Enhancers	GM12878-XiMat	blood
30	chr5:151906800-151908000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr5:151906800-151908000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr5:151906800-151908000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr5:151906800-151908200	Enhancers	Primary B cells from peripheral blood	blood
34	chr5:151906800-151908200	Enhancers	Fetal Muscle Leg	muscle
35	chr5:151906800-151908400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr5:151906800-151908600	Enhancers	Primary T cells fromperipheralblood	blood
37	chr5:151907000-151907200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr5:151907000-151907200	Enhancers	H1 Cell Line	embryonic stem cell
39	chr5:151907000-151907200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr5:151907000-151907200	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr5:151907000-151907200	Enhancers	Left Ventricle	heart
42	chr5:151907000-151907400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:151907000-151907400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr5:151907000-151907400	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr5:151907000-151907800	Weak transcription	Spleen	Spleen
46	chr5:151907000-151908000	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr5:151907000-151908000	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr5:151907000-151908200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:151907000-151908800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr5:151907000-151909800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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