Variant report

Variant	nsv464259
Chromosome Location	chr7:2920067-2937450
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:21)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:2922257..2924119-chr7:2925504..2928131,3	MCF-7	breast:
2	chr2:55276517..55279119-chr7:2925585..2928564,2	K562	blood:
3	chr7:2934170..2935708-chr7:2937093..2939004,2	K562	blood:
4	chr7:2898176..2901169-chr7:2925021..2926702,2	MCF-7	breast:
5	chr7:2926533..2927268-chr7:3239915..3240463,3	MCF-7	breast:
6	chr7:2913332..2915358-chr7:2931713..2934636,3	MCF-7	breast:
7	chr7:2926249..2926927-chr7:3240062..3240775,2	MCF-7	breast:
8	chr7:2922257..2924119-chr7:2925504..2928131,3	MCF-7	breast:
9	chr7:2926330..2927157-chr7:3107129..3108063,2	K562	blood:
10	chr7:2921568..2923869-chr7:3228214..3231115,2	MCF-7	breast:
11	chr7:2913187..2915316-chr7:2934287..2938323,4	MCF-7	breast:
12	chr7:2925307..2926930-chr7:3193219..3196331,3	MCF-7	breast:
13	chr7:2934561..2937254-chr7:2944199..2945899,2	MCF-7	breast:
14	chr7:2934170..2935708-chr7:2937093..2939004,2	K562	blood:
15	chr7:2926599..2927259-chr7:3129024..3129578,2	MCF-7	breast:
16	chr7:2926722..2927303-chr7:3040053..3040619,2	MCF-7	breast:
17	chr7:2926548..2927187-chr7:3103632..3104310,2	MCF-7	breast:
18	chr7:2925014..2926556-chr7:2928652..2930523,2	K562	blood:
19	chr7:2925014..2926556-chr7:2928652..2930523,2	K562	blood:
20	chr7:2926382..2927118-chr7:3105405..3105996,2	MCF-7	breast:
21	chr7:2926262..2927534-chr7:3194238..3195613,6	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AMZ1-4	chr7:2920040-2920279	NONHSAT118828
2	lnc-AMZ1-5	chr7:2931858-2932259	NONHSAT118829

No data

Variant related genes	Relation type
ENSG00000115310	chromatin interactions

Extended variants
information (count: 871 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:871 , 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	rs17132769	chr7:2920067-2920068	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542974871	chr7:2920068-2920069	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
3	rs532868990	chr7:2920143-2920144	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
4	rs185355063	chr7:2920148-2920149	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
5	rs576845927	chr7:2920167-2920168	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
6	rs76600217	chr7:2920217-2920218	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
7	rs188171901	chr7:2920269-2920270	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
8	rs528290580	chr7:2920324-2920325	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs548542382	chr7:2920372-2920373	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs192771763	chr7:2920400-2920401	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs530120484	chr7:2920407-2920408	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs371929409	chr7:2920433-2920434	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs550119769	chr7:2920475-2920476	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs183686501	chr7:2920486-2920487	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs571017396	chr7:2920494-2920495	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs112703609	chr7:2920498-2920499	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs539157710	chr7:2920499-2920500	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs552369582	chr7:2920501-2920502	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs565981429	chr7:2920557-2920558	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs113002709	chr7:2920641-2920642	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs534881956	chr7:2920666-2920667	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs188304055	chr7:2920684-2920685	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs112853047	chr7:2920727-2920728	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs536672467	chr7:2920745-2920746	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs556948606	chr7:2920821-2920822	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs149280589	chr7:2920834-2920835	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs374294010	chr7:2920851-2920852	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs181800187	chr7:2920857-2920858	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs146928840	chr7:2920869-2920870	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs111605155	chr7:2920899-2920900	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs201446654	chr7:2920908-2920909	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs6954545	chr7:2920910-2920911	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs200756693	chr7:2920911-2920912	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs111794423	chr7:2920912-2920913	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs376255156	chr7:2920925-2920926	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs541997329	chr7:2920941-2920942	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs137956908	chr7:2920945-2920946	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs75431994	chr7:2920952-2920953	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs17132772	chr7:2920983-2920984	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs551059730	chr7:2920990-2920991	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs532400547	chr7:2921011-2921012	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs66975137	chr7:2921015-2921016	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs528381828	chr7:2921017-2921018	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs565797184	chr7:2921162-2921163	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs560947248	chr7:2921170-2921171	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs528666631	chr7:2921178-2921179	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs548349806	chr7:2921183-2921184	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs372825422	chr7:2921223-2921224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537774337	chr7:2921241-2921242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377242559	chr7:2921258-2921259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Nasopharyngeal cancer	20548289	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2903600-2921600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:2913200-2920800	Weak transcription	Right Atrium	heart
3	chr7:2916400-2920400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:2916400-2921600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:2916600-2920200	Weak transcription	HMEC	breast
6	chr7:2917600-2920200	Enhancers	Fetal Thymus	thymus
7	chr7:2917800-2920400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:2918000-2920200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr7:2918000-2923400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr7:2918600-2920600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr7:2918800-2920800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:2918800-2921000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr7:2918800-2923400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:2919000-2921000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:2919200-2921600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:2919200-2922400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr7:2919400-2921200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:2919600-2920200	Enhancers	Fetal Muscle Leg	muscle
19	chr7:2919600-2920600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr7:2919600-2920800	Enhancers	Fetal Lung	lung
21	chr7:2919600-2921000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:2919600-2921000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr7:2919600-2921200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:2919600-2923600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr7:2919600-2924000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:2919800-2920600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:2919800-2920800	Enhancers	Ovary	ovary
28	chr7:2919800-2922000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr7:2919800-2923600	Weak transcription	Fetal Kidney	kidney
30	chr7:2919800-2926400	Weak transcription	Fetal Brain Male	brain
31	chr7:2920000-2920800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr7:2920000-2920800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:2920000-2921000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:2920000-2921000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr7:2920000-2921200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr7:2920000-2921600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:2920000-2921600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:2920200-2920400	Enhancers	Brain Hippocampus Middle	brain
39	chr7:2920200-2920400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr7:2920200-2920600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:2920200-2920800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:2920200-2920800	Enhancers	Fetal Stomach	stomach
43	chr7:2920200-2920800	Enhancers	HMEC	breast
44	chr7:2920200-2920800	Enhancers	NHEK	skin
45	chr7:2920200-2921000	Bivalent Enhancer	Fetal Muscle Leg	muscle
46	chr7:2920200-2921000	Weak transcription	Fetal Thymus	thymus
47	chr7:2920400-2920800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:2920400-2920800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr7:2920400-2921600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:2920600-2920800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin

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