Variant report

Variant	nsv981427
Chromosome Location	chr7:5620739-5626996
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5619575..5622315-chr7:5631858..5633923,2	MCF-7	breast:
2	chr7:5568694..5571012-chr7:5626616..5628633,2	K562	blood:
3	chr7:5614656..5616510-chr7:5623918..5626080,2	MCF-7	breast:
4	chr7:5624754..5628183-chr7:5631901..5633829,4	MCF-7	breast:
5	chr7:5607347..5609764-chr7:5625302..5626880,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075618	chromatin interactions
ENSG00000075624	chromatin interactions

Extended variants
information (count: 317 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182665666	chr7:5620764-5620765	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs535529835	chr7:5620786-5620787	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs188857856	chr7:5620802-5620803	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs566021572	chr7:5620806-5620807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs539745526	chr7:5620823-5620824	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs147319335	chr7:5620832-5620833	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs78812127	chr7:5620833-5620834	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs1106076	chr7:5620843-5620844	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs555973700	chr7:5620851-5620852	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs58140128	chr7:5620894-5620895	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs541907281	chr7:5620917-5620918	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs559896986	chr7:5620943-5620944	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs192349844	chr7:5620951-5620952	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs527328762	chr7:5620961-5620962	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs545476045	chr7:5620967-5620968	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs564442378	chr7:5620984-5620985	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs77446790	chr7:5620995-5620996	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs565543687	chr7:5621003-5621004	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs567878386	chr7:5621007-5621008	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs529353708	chr7:5621129-5621130	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs368339527	chr7:5621142-5621143	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs540843258	chr7:5621144-5621145	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs73334421	chr7:5621145-5621146	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs371640289	chr7:5621174-5621175	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs140991213	chr7:5621175-5621176	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs551468202	chr7:5621191-5621192	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs539297309	chr7:5621211-5621212	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs570390348	chr7:5621215-5621216	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs184559733	chr7:5621223-5621224	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs551374059	chr7:5621231-5621232	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs556006517	chr7:5621232-5621233	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs75017101	chr7:5621237-5621238	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs113381587	chr7:5621238-5621239	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs535227644	chr7:5621251-5621252	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs374600206	chr7:5621252-5621253	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs150813204	chr7:5621279-5621280	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs2693951	chr7:5621289-5621290	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs545814394	chr7:5621362-5621363	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs113407324	chr7:5621367-5621368	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs555361115	chr7:5621380-5621381	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs139279034	chr7:5621434-5621435	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs543271163	chr7:5621493-5621494	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs371737521	chr7:5621538-5621539	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs561546502	chr7:5621542-5621543	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs191953125	chr7:5621579-5621580	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs547262692	chr7:5621613-5621614	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs559832087	chr7:5621623-5621624	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs2345940	chr7:5621624-5621625	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs551772762	chr7:5621635-5621636	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs573618638	chr7:5621649-5621650	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5610600-5621000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:5619000-5620800	Enhancers	Fetal Muscle Leg	muscle
3	chr7:5619400-5629800	Weak transcription	Spleen	Spleen
4	chr7:5619400-5631000	Weak transcription	K562	blood
5	chr7:5620200-5620800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:5620200-5620800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr7:5620200-5621000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:5620200-5621000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:5620200-5621000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:5620200-5621000	Enhancers	Left Ventricle	heart
11	chr7:5620200-5621200	Enhancers	Adipose Nuclei	Adipose
12	chr7:5620200-5621200	Enhancers	Fetal Thymus	thymus
13	chr7:5620200-5621200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
14	chr7:5620200-5621400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:5620200-5621400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:5620200-5621400	Enhancers	Fetal Stomach	stomach
17	chr7:5620200-5621400	Enhancers	Ovary	ovary
18	chr7:5620400-5620800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr7:5620400-5620800	Enhancers	Colon Smooth Muscle	Colon
20	chr7:5620400-5620800	Enhancers	Fetal Intestine Large	intestine
21	chr7:5620400-5620800	Enhancers	HMEC	breast
22	chr7:5620400-5621000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:5620400-5621000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr7:5620400-5621000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:5620400-5621000	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr7:5620400-5621000	Enhancers	Pancreas	Pancrea
27	chr7:5620400-5621000	Enhancers	Hela-S3	cervix
28	chr7:5620400-5621200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:5620400-5621200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:5620400-5621400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:5620400-5621400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr7:5620400-5621400	Enhancers	Fetal Lung	lung
33	chr7:5620600-5620800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:5620600-5620800	Bivalent Enhancer	Fetal Intestine Small	intestine
35	chr7:5620600-5620800	Enhancers	NHEK	skin
36	chr7:5620600-5621000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr7:5620600-5621000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr7:5620600-5621000	Enhancers	Liver	Liver
39	chr7:5620600-5621000	Enhancers	Brain Hippocampus Middle	brain
40	chr7:5620600-5621000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr7:5620600-5621000	Enhancers	Placenta Amnion	Placenta Amnion
42	chr7:5620600-5621000	Enhancers	Right Ventricle	heart
43	chr7:5620600-5621000	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr7:5620600-5621000	Enhancers	A549	lung
45	chr7:5620600-5621000	Flanking Active TSS	HUVEC	blood vessel
46	chr7:5620600-5621000	Enhancers	NHLF	lung
47	chr7:5620600-5621000	Flanking Bivalent TSS/Enh	Osteobl	bone
48	chr7:5620600-5621200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr7:5620600-5621200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr7:5620600-5621200	Enhancers	HUES64 Cell Line	embryonic stem cell

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