Variant report

Variant	nsv964965
Chromosome Location	chr5:154108820-154112255
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:154110340..154114557-chr5:154119062..154122333,4	MCF-7	breast:
2	chr5:154108106..154110806-chr5:154133073..154135320,2	K562	blood:
3	chr5:154081082..154084352-chr5:154105726..154108846,3	K562	blood:
4	chr5:154110904..154115503-chr5:154133051..154136642,5	MCF-7	breast:
5	chr5:154110905..154113658-chr5:154115754..154117502,2	K562	blood:
6	chr5:154107670..154109549-chr5:154132494..154135385,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNOT8-4	chr5:154108791-154109254	NONHSAT104710

No data

Variant related genes	Relation type
ENSG00000155506	chromatin interactions
ENSG00000263478	chromatin interactions

Extended variants
information (count: 124 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147111273	chr5:154108877-154108878	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs76421782	chr5:154108888-154108889	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs186208467	chr5:154108977-154108978	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs77343858	chr5:154108983-154108984	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs567320626	chr5:154109020-154109021	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs369387503	chr5:154109030-154109031	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs528536397	chr5:154109033-154109034	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs548588954	chr5:154109084-154109085	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs191893889	chr5:154109093-154109094	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs545211462	chr5:154109149-154109150	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs536325971	chr5:154109152-154109153	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs112006144	chr5:154109168-154109169	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs575502865	chr5:154109180-154109181	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs181509979	chr5:154109214-154109215	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs62380559	chr5:154109261-154109262	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs1233076	chr5:154109263-154109264	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs573466280	chr5:154109446-154109447	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs200694264	chr5:154109466-154109467	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs370836173	chr5:154109476-154109477	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs540876691	chr5:154109497-154109498	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs186943152	chr5:154109501-154109502	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs191217769	chr5:154109545-154109546	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs375824588	chr5:154109557-154109558	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs144910045	chr5:154109566-154109567	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs559551148	chr5:154109582-154109583	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs569393766	chr5:154109593-154109594	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs34845110	chr5:154109630-154109631	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs577855888	chr5:154109644-154109645	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs199850410	chr5:154109744-154109745	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs551488240	chr5:154109757-154109758	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs548929619	chr5:154109760-154109761	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs149039314	chr5:154109781-154109782	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs112912996	chr5:154109814-154109815	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs113431653	chr5:154109873-154109874	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs200742750	chr5:154109874-154109875	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs117744866	chr5:154109887-154109888	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs141589537	chr5:154109971-154109972	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs373255935	chr5:154110009-154110010	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs558610641	chr5:154110046-154110047	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs575395181	chr5:154110049-154110050	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs543980965	chr5:154110050-154110051	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs554474370	chr5:154110093-154110094	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs574353705	chr5:154110096-154110097	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs540251322	chr5:154110097-154110098	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs377704971	chr5:154110101-154110102	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs560240183	chr5:154110164-154110165	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs386693831	chr5:154110174-154110175	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs202245248	chr5:154110178-154110179	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs200355043	chr5:154110181-154110182	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs532530061	chr5:154110186-154110187	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	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
Acute lymphoblastic leukemia	22237106	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
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	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
Myelofibrosis	22110671	CNVD
Deafness	19353646	CNVD
Developmental delay	19353646	CNVD
dysmorphism	19353646	CNVD
feeding difficulties	19353646	CNVD
strabismus	19353646	CNVD
Gastric adenocarcinoma	19115996	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Epilepsy	20502679	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154074200-154120000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:154102200-154111000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:154102200-154117400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:154103000-154111000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:154103800-154110800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:154104000-154120000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr5:154104400-154109400	Weak transcription	Stomach Mucosa	stomach
8	chr5:154104400-154118600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr5:154104600-154117600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:154107200-154133200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr5:154107800-154109200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:154108400-154110400	Enhancers	HepG2	liver
13	chr5:154108600-154109000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr5:154108600-154109400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr5:154108600-154109600	Enhancers	Liver	Liver
16	chr5:154108600-154112800	Weak transcription	Psoas Muscle	Psoas
17	chr5:154108800-154109600	Enhancers	A549	lung
18	chr5:154108800-154110800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr5:154108800-154111000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:154108800-154117400	Weak transcription	Pancreas	Pancrea
21	chr5:154109200-154120000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:154109400-154109600	Enhancers	Stomach Mucosa	stomach
23	chr5:154109600-154117400	Weak transcription	A549	lung
24	chr5:154109600-154120000	Weak transcription	Liver	Liver
25	chr5:154109600-154120800	Weak transcription	Stomach Mucosa	stomach
26	chr5:154109800-154111800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr5:154110400-154110800	Weak transcription	HepG2	liver
28	chr5:154110400-154112000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:154110800-154111200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr5:154110800-154111200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr5:154110800-154111400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr5:154110800-154113000	Enhancers	HepG2	liver
33	chr5:154111000-154111400	Enhancers	H1 Cell Line	embryonic stem cell
34	chr5:154111000-154111400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr5:154111000-154111400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr5:154111200-154120400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:154111400-154111600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr5:154111400-154117400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr5:154111400-154120200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr5:154111600-154112800	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr5:154111800-154112000	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr5:154112000-154112200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr5:154112000-154120800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr5:154112200-154123600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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