Variant report

Variant	nsv5068
Chromosome Location	chr5:150968232-150979554
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:12)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:150967406..150969567-chr5:150971119..150974088,3	K562	blood:
2	chr5:150974778..150977352-chr5:150981183..150983687,3	MCF-7	breast:
3	chr5:150971254..150973488-chr5:150979445..150981380,2	K562	blood:
4	chr5:150948647..150952629-chr5:150970748..150974404,4	MCF-7	breast:
5	chr5:150962459..150965963-chr5:150966583..150970209,3	MCF-7	breast:
6	chr5:150970947..150972765-chr5:150975628..150977539,2	K562	blood:
7	chr5:150967406..150969567-chr5:150971119..150974088,3	K562	blood:
8	chr5:150975153..150977808-chr5:150980709..150982834,3	K562	blood:
9	chr5:150970947..150972765-chr5:150975628..150977539,2	K562	blood:
10	chr5:150971254..150973488-chr5:150979445..150981380,2	K562	blood:
11	chr5:150965412..150967281-chr5:150969711..150971989,2	K562	blood:
12	chr5:150975153..150977808-chr5:150981246..150982834,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC36A1-2	chr5:150976186-150976223	NONHSAT104618
2	lnc-SLC36A1-2	chr5:150974850-150975054	NONHSAT104618

No data

Extended variants
information (count: 446 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:446 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150954214	chr5:150968238-150968239	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs192633541	chr5:150968246-150968247	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs184660588	chr5:150968248-150968249	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs547482952	chr5:150968284-150968285	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs532426576	chr5:150968290-150968291	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs1368369	chr5:150968303-150968304	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs577285194	chr5:150968311-150968312	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs6889056	chr5:150968400-150968401	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs78669736	chr5:150968417-150968418	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs189131709	chr5:150968431-150968432	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs76331696	chr5:150968458-150968459	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs139539418	chr5:150968542-150968543	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs567146353	chr5:150968549-150968550	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs371919088	chr5:150968571-150968572	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs556638778	chr5:150968592-150968593	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs577556456	chr5:150968615-150968616	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs111963223	chr5:150968688-150968689	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs192120062	chr5:150968726-150968727	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs575175414	chr5:150968748-150968749	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs577777692	chr5:150968756-150968757	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs564323002	chr5:150968760-150968761	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs538857994	chr5:150968766-150968767	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs146727027	chr5:150968797-150968798	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs575503175	chr5:150968850-150968851	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs542290683	chr5:150968851-150968852	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs542548588	chr5:150968951-150968952	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs576343158	chr5:150969090-150969091	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs140373568	chr5:150969109-150969110	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs145578860	chr5:150969206-150969207	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs559437353	chr5:150969218-150969219	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs533227314	chr5:150969235-150969236	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs185129662	chr5:150969255-150969256	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs563694145	chr5:150969284-150969285	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs116216456	chr5:150969293-150969294	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs201817733	chr5:150969302-150969303	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs549388137	chr5:150969321-150969322	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs62379741	chr5:150969325-150969326	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs60936401	chr5:150969326-150969327	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs111964787	chr5:150969328-150969329	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs571367087	chr5:150969335-150969336	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs189652713	chr5:150969344-150969345	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs557160293	chr5:150969445-150969446	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs575343032	chr5:150969452-150969453	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs181183323	chr5:150969471-150969472	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs115232097	chr5:150969485-150969486	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs371905074	chr5:150969492-150969493	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs186070250	chr5:150969555-150969556	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs73275815	chr5:150969590-150969591	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs74359300	chr5:150969627-150969628	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs541050825	chr5:150969739-150969740	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	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:277 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:150961800-150968600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:150961800-150970400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:150964400-150975000	Weak transcription	HSMMtube	muscle
4	chr5:150965800-150968800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:150966000-150969200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:150966000-150969600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:150966000-150969600	Weak transcription	HSMM	muscle
8	chr5:150966000-151002000	Weak transcription	Right Atrium	heart
9	chr5:150966200-150968800	Weak transcription	Adipose Nuclei	Adipose
10	chr5:150966200-150969800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr5:150966200-150972400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:150966800-150969200	Transcr. at gene 5' and 3'	NHEK	skin
13	chr5:150967000-150968800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:150967400-150969000	Transcr. at gene 5' and 3'	HMEC	breast
15	chr5:150967800-150969200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:150968000-150968600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr5:150968000-150968600	Weak transcription	Esophagus	oesophagus
18	chr5:150968000-150969200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:150968000-150970800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:150968200-150969600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:150968600-150970400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr5:150968600-150971200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:150968600-150971200	Active TSS	Esophagus	oesophagus
24	chr5:150968800-150969000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:150968800-150969000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:150968800-150969000	Enhancers	Fetal Thymus	thymus
27	chr5:150968800-150969800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:150968800-150970000	Enhancers	Adipose Nuclei	Adipose
29	chr5:150968800-150973800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:150969000-150969400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:150969000-150969800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:150969000-150971000	Active TSS	HMEC	breast
33	chr5:150969200-150969600	Active TSS	NHEK	skin
34	chr5:150969200-150970000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:150969200-150970200	Enhancers	H1 Cell Line	embryonic stem cell
36	chr5:150969200-150971000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:150969200-150976200	Weak transcription	Spleen	Spleen
38	chr5:150969400-150970200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:150969400-150979400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:150969600-150969800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr5:150969600-150969800	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr5:150969600-150969800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:150969600-150970000	Enhancers	HSMM	muscle
44	chr5:150969600-150970200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:150969600-150970200	Flanking Active TSS	NHEK	skin
46	chr5:150969600-150970400	Active TSS	Fetal Kidney	kidney
47	chr5:150969600-150970400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
48	chr5:150969800-150970000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
49	chr5:150969800-150970000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:150969800-150970000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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