Variant report

Variant	nsv429823
Chromosome Location	chr7:152589802-152616099
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:152591184..152592070-chr7:153078454..153079236,2	MCF-7	breast:
2	chr7:152588549..152590178-chr7:152590291..152592106,2	K562	blood:
3	chr7:152591605..152592124-chr7:153532194..153532836,2	MCF-7	breast:
4	chr7:152595615..152597304-chr7:152598757..152600318,2	K562	blood:
5	chr7:152588507..152591156-chr7:152595233..152597420,2	K562	blood:
6	chr7:152592469..152595715-chr7:152602520..152605379,3	K562	blood:
7	chr7:152592469..152595715-chr7:152602520..152605379,3	K562	blood:
8	chr7:152590930..152593024-chr7:152603046..152604985,2	MCF-7	breast:
9	chr7:152615135..152617990-chr7:153104764..153107812,3	K562	blood:
10	chr7:152596836..152599068-chr7:152599641..152602320,2	K562	blood:
11	chr7:152596836..152599068-chr7:152599641..152602320,2	K562	blood:
12	chr7:152588968..152591150-chr7:152591606..152593343,2	MCF-7	breast:
13	chr7:152588968..152591150-chr7:152591606..152593343,2	MCF-7	breast:
14	chr7:152589505..152592233-chr7:153104803..153106680,2	K562	blood:
15	chr7:152590930..152593024-chr7:152603046..152604985,2	MCF-7	breast:
16	chr7:152595615..152597304-chr7:152598757..152600318,2	K562	blood:
17	chr7:152615302..152618070-chr7:152618981..152621155,2	K562	blood:
18	chr7:152591144..152592074-chr7:152656414..152657185,2	MCF-7	breast:
19	chr7:152592588..152594175-chr7:153102302..153103832,2	K562	blood:
20	chr7:152588507..152591156-chr7:152595233..152597420,2	K562	blood:
21	chr7:152595309..152597143-chr7:153102901..153104884,2	K562	blood:
22	chr7:152600593..152604431-chr7:153104940..153107829,3	K562	blood:
23	chr7:152588549..152590178-chr7:152590291..152592106,2	K562	blood:
24	chr7:152556489..152557016-chr7:152591189..152592154,2	K562	blood:

No data

Extended variants
information (count: 1208 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1208 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4236441	chr7:152589802-152589803	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570088094	chr7:152589803-152589804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532795984	chr7:152589843-152589844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs80180332	chr7:152589846-152589847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370176014	chr7:152589860-152589861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111334823	chr7:152589895-152589896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150430116	chr7:152589947-152589948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs80163636	chr7:152589991-152589992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370098913	chr7:152590049-152590050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78617034	chr7:152590160-152590161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112506170	chr7:152590181-152590182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530719819	chr7:152590186-152590187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568971026	chr7:152590195-152590196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79776124	chr7:152590264-152590265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192991684	chr7:152590267-152590268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs118174428	chr7:152590272-152590273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145293179	chr7:152590273-152590274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112263401	chr7:152590276-152590277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371249839	chr7:152590282-152590283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149136575	chr7:152590292-152590293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201555164	chr7:152590338-152590339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111517583	chr7:152590339-152590340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377285277	chr7:152590340-152590341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575380514	chr7:152590353-152590354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145020830	chr7:152590383-152590384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112982669	chr7:152590438-152590439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573377869	chr7:152590441-152590442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs117515357	chr7:152590447-152590448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370471386	chr7:152590485-152590486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184748019	chr7:152590505-152590506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs80347177	chr7:152590555-152590556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113794849	chr7:152590588-152590589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141134742	chr7:152590641-152590642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530578823	chr7:152590643-152590644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552315197	chr7:152590654-152590655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111316562	chr7:152590656-152590657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189073497	chr7:152590678-152590679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76030653	chr7:152590705-152590706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138677823	chr7:152590751-152590752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541092444	chr7:152590764-152590765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4726221	chr7:152590772-152590773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71182047	chr7:152590773-152590774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4725475	chr7:152590778-152590779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs55749014	chr7:152590781-152590782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75006881	chr7:152590782-152590783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13224440	chr7:152590783-152590784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551268964	chr7:152590790-152590791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374899373	chr7:152590792-152590793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535454110	chr7:152590823-152590824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550514275	chr7:152590887-152590888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Ovarian cancer	21720365	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Nasopharyngeal cancer	20548289	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD

Chromatin state (count:232 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152578000-152591200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:152581800-152590000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:152583400-152591200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:152586400-152611400	Weak transcription	Right Atrium	heart
5	chr7:152588800-152591000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:152591000-152592600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:152591200-152591400	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:152591200-152592200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:152591400-152591600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:152591400-152591600	Active TSS	Liver	Liver
11	chr7:152591400-152591800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr7:152591400-152591800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr7:152591400-152591800	Enhancers	Adipose Nuclei	Adipose
14	chr7:152591400-152591800	Active TSS	Brain Hippocampus Middle	brain
15	chr7:152591400-152591800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:152591400-152591800	Bivalent Enhancer	Right Ventricle	heart
17	chr7:152591400-152591800	Enhancers	HepG2	liver
18	chr7:152591400-152592000	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr7:152591400-152592000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr7:152591400-152592000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr7:152591400-152592000	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr7:152591400-152592000	Enhancers	Pancreas	Pancrea
23	chr7:152591400-152592200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr7:152591400-152592200	Enhancers	Fetal Brain Male	brain
25	chr7:152591400-152592200	Enhancers	Spleen	Spleen
26	chr7:152591600-152591800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:152591600-152591800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:152591600-152591800	Enhancers	Liver	Liver
29	chr7:152591600-152591800	Active TSS	Brain Anterior Caudate	brain
30	chr7:152591600-152591800	Active TSS	Fetal Brain Female	brain
31	chr7:152591600-152591800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
32	chr7:152591600-152592000	Active TSS	Brain Cingulate Gyrus	brain
33	chr7:152591600-152592000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
34	chr7:152591800-152592000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr7:152591800-152592000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr7:152591800-152592000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:152591800-152592000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:152591800-152592000	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:152591800-152592000	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr7:152591800-152592000	Flanking Active TSS	Liver	Liver
41	chr7:152591800-152592000	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr7:152591800-152592000	Flanking Active TSS	Brain Germinal Matrix	brain
43	chr7:152591800-152592000	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr7:152591800-152592000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr7:152591800-152592000	Flanking Active TSS	Fetal Brain Female	brain
46	chr7:152591800-152592000	Enhancers	Fetal Intestine Small	intestine
47	chr7:152591800-152592000	Bivalent Enhancer	Fetal Stomach	stomach
48	chr7:152591800-152592000	Bivalent/Poised TSS	Right Ventricle	heart
49	chr7:152591800-152592000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
50	chr7:152591800-152592000	Flanking Active TSS	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links