Variant report

Variant	nsv508491
Chromosome Location	chr7:152558615-152588232
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:9)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:152549705..152553175-chr7:152560655..152563362,3	K562	blood:
2	chr7:152557682..152560578-chr7:152560723..152562982,2	K562	blood:
3	chr7:152579764..152582618-chr7:152582965..152586038,3	K562	blood:
4	chr7:152561372..152563644-chr7:152566422..152569176,2	K562	blood:
5	chr7:152567221..152568854-chr7:152821734..152824144,2	K562	blood:
6	chr7:152556277..152558031-chr7:152558096..152559676,2	MCF-7	breast:
7	chr7:152557682..152560578-chr7:152560723..152562982,2	K562	blood:
8	chr7:152561372..152563644-chr7:152566422..152569176,2	K562	blood:
9	chr7:152579764..152582618-chr7:152582965..152586038,3	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACTR3B-3	chr7:152559223-152559315	NONHSAT124284
2	lnc-ACTR3B-3	chr7:152562181-152562648	NONHSAT124284
3	lnc-ACTR3B-4	chr7:152584608-152584832	NONHSAT124285
4	lnc-ACTR3B-4	chr7:152583184-152583297	NONHSAT124285

No data

Extended variants
information (count: 1367 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1367 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374780533	chr7:152558636-152558637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574018096	chr7:152558663-152558664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541392264	chr7:152558664-152558665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182654933	chr7:152558667-152558668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575230102	chr7:152558689-152558690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545922502	chr7:152558711-152558712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564032248	chr7:152558753-152558754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75190124	chr7:152558764-152558765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73166496	chr7:152558770-152558771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191317852	chr7:152558773-152558774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182455251	chr7:152558812-152558813	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187489301	chr7:152558818-152558819	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564925631	chr7:152558847-152558848	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569280140	chr7:152558848-152558849	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372027049	chr7:152558857-152558858	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149172464	chr7:152558917-152558918	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111882522	chr7:152558922-152558923	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541265878	chr7:152558999-152559000	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142458715	chr7:152559000-152559001	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537071274	chr7:152559044-152559045	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534101202	chr7:152559068-152559069	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555557848	chr7:152559069-152559070	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73490986	chr7:152559095-152559096	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs538177675	chr7:152559116-152559117	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556671598	chr7:152559123-152559124	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199652229	chr7:152559125-152559126	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs117005502	chr7:152559153-152559154	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77559429	chr7:152559163-152559164	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143224063	chr7:152559164-152559165	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572988598	chr7:152559191-152559192	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113289523	chr7:152559207-152559208	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561892058	chr7:152559220-152559221	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148303322	chr7:152559221-152559222	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544535997	chr7:152559232-152559233	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs562650242	chr7:152559237-152559238	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs561352715	chr7:152559307-152559308	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs192080443	chr7:152559342-152559343	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141764993	chr7:152559344-152559345	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183244441	chr7:152559347-152559348	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374696138	chr7:152559442-152559443	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527816072	chr7:152559461-152559462	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549146680	chr7:152559469-152559470	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567570546	chr7:152559478-152559479	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550252573	chr7:152559490-152559491	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571454681	chr7:152559509-152559510	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140504280	chr7:152559556-152559557	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553338369	chr7:152559597-152559598	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73490987	chr7:152559634-152559635	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs115124636	chr7:152559672-152559673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144884964	chr7:152559676-152559677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152489800-152568800	Weak transcription	Hela-S3	cervix
2	chr7:152498400-152559200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr7:152510200-152569800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:152518000-152558800	Weak transcription	Dnd41	blood
5	chr7:152527600-152564800	Weak transcription	A549	lung
6	chr7:152538400-152559200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:152539200-152563800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:152540600-152560600	Weak transcription	HepG2	liver
9	chr7:152541000-152563800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:152541000-152568400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:152541200-152559200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr7:152544600-152561600	Weak transcription	Fetal Kidney	kidney
13	chr7:152547200-152563600	Weak transcription	Brain Anterior Caudate	brain
14	chr7:152548200-152562600	Weak transcription	Colon Smooth Muscle	Colon
15	chr7:152548400-152564600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:152550000-152566600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:152550800-152560600	Weak transcription	Fetal Intestine Large	intestine
18	chr7:152550800-152563600	Weak transcription	Thymus	Thymus
19	chr7:152551800-152560800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr7:152551800-152564000	Weak transcription	Fetal Intestine Small	intestine
21	chr7:152551800-152566600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:152552000-152559200	Weak transcription	Placenta	Placenta
23	chr7:152552000-152562000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr7:152552000-152562200	Weak transcription	Pancreas	Pancrea
25	chr7:152552000-152562400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:152552000-152562600	Weak transcription	Aorta	Aorta
27	chr7:152552000-152564000	Weak transcription	Ovary	ovary
28	chr7:152552000-152564400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:152552000-152565600	Weak transcription	Fetal Muscle Leg	muscle
30	chr7:152552000-152566400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:152552000-152566400	Weak transcription	Fetal Brain Female	brain
32	chr7:152552200-152565800	Weak transcription	HSMMtube	muscle
33	chr7:152552600-152562800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr7:152552600-152564200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr7:152553600-152564200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:152553600-152564200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:152553600-152567000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:152553800-152558800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr7:152553800-152558800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:152553800-152558800	Weak transcription	Lung	lung
41	chr7:152553800-152558800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr7:152553800-152558800	Weak transcription	Spleen	Spleen
43	chr7:152553800-152559200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr7:152553800-152559200	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr7:152553800-152560200	Weak transcription	Brain Hippocampus Middle	brain
46	chr7:152553800-152560800	Weak transcription	Adipose Nuclei	Adipose
47	chr7:152553800-152562200	Weak transcription	Gastric	stomach
48	chr7:152553800-152562600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr7:152553800-152564800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr7:152553800-152565400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links