Variant report

Variant	esv2763613
Chromosome Location	chr7:4953841-4995031
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:0)
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	chr7:4989251..4990849-chr7:4993553..4996402,2	K562	blood:
2	chr7:4943284..4944790-chr7:4959243..4960927,2	MCF-7	breast:
3	chr7:4989251..4990849-chr7:4993553..4996402,2	K562	blood:
4	chr7:4984171..4987162-chr7:4994775..4996781,2	K562	blood:
5	chr7:4920467..4922780-chr7:4952296..4954216,2	MCF-7	breast:
6	chr7:4814995..4816814-chr7:4975507..4977635,2	K562	blood:
7	chr7:4960887..4962459-chr7:4962868..4964450,2	K562	blood:
8	chr7:4960887..4962459-chr7:4962868..4964450,2	K562	blood:
9	chr7:4984171..4987162-chr7:4994775..4996781,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000157927	chromatin interactions
ENSG00000242802	chromatin interactions

Extended variants
information (count: 1939 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1939 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554345385	chr7:4953847-4953848	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs573020692	chr7:4953885-4953886	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs139656759	chr7:4953895-4953896	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs12531673	chr7:4953946-4953947	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs190229605	chr7:4953959-4953960	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs76652000	chr7:4953979-4953980	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs142918534	chr7:4954010-4954011	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs10243726	chr7:4954012-4954013	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs181014976	chr7:4954020-4954021	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs151101504	chr7:4954033-4954034	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs117684585	chr7:4954043-4954044	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs536974208	chr7:4954052-4954053	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs185150523	chr7:4954097-4954098	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs112761659	chr7:4954116-4954117	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs192306069	chr7:4954137-4954138	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs558530824	chr7:4954166-4954167	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs541689486	chr7:4954197-4954198	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369407277	chr7:4954228-4954229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564720465	chr7:4954232-4954233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6463168	chr7:4954288-4954289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs550170128	chr7:4954290-4954291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116533136	chr7:4954298-4954299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139961252	chr7:4954305-4954306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149860383	chr7:4954328-4954329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566688224	chr7:4954402-4954403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201669769	chr7:4954409-4954410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183719884	chr7:4954411-4954412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs58057613	chr7:4954416-4954417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558853547	chr7:4954507-4954508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534812263	chr7:4954518-4954519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71535151	chr7:4954541-4954542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs58893354	chr7:4954545-4954546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188710194	chr7:4954601-4954602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538199209	chr7:4954612-4954613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6947806	chr7:4954620-4954621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191719515	chr7:4954624-4954625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574950848	chr7:4954634-4954635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113990126	chr7:4954636-4954637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183585916	chr7:4954641-4954642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542374962	chr7:4954674-4954675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11771164	chr7:4954694-4954695	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs116083838	chr7:4954745-4954746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116315992	chr7:4954750-4954751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117422578	chr7:4954760-4954761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187188809	chr7:4954771-4954772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2881078	chr7:4954807-4954808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs550131469	chr7:4954808-4954809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562180543	chr7:4954914-4954915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373010431	chr7:4954939-4954940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147052351	chr7:4954970-4954971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
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
Glioblastoma multiforme	21525872	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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4944600-4957600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr7:4946600-4964000	Weak transcription	Brain Hippocampus Middle	brain
3	chr7:4947600-4957600	Weak transcription	Brain Anterior Caudate	brain
4	chr7:4957600-4957800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
5	chr7:4957600-4958000	ZNF genes & repeats	Brain Anterior Caudate	brain
6	chr7:4957800-4971400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:4958000-4971400	Weak transcription	Brain Anterior Caudate	brain
8	chr7:4959000-4959800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:4959800-4960000	ZNF genes & repeats	Spleen	Spleen
10	chr7:4960000-4960200	Bivalent Enhancer	A549	lung
11	chr7:4962600-4968600	Weak transcription	Right Atrium	heart
12	chr7:4964000-4964200	Enhancers	Brain Hippocampus Middle	brain
13	chr7:4967800-4971400	Weak transcription	Brain Angular Gyrus	brain
14	chr7:4968600-4968800	Enhancers	Esophagus	oesophagus
15	chr7:4970200-4971600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:4971000-4971800	Active TSS	Brain Substantia Nigra	brain
17	chr7:4971000-4973400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr7:4971200-4971600	Enhancers	Brain Hippocampus Middle	brain
19	chr7:4971400-4971600	Enhancers	Brain Angular Gyrus	brain
20	chr7:4971400-4971600	Enhancers	Brain Cingulate Gyrus	brain
21	chr7:4971400-4971600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr7:4971400-4972000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:4971400-4972600	Enhancers	Brain Anterior Caudate	brain
24	chr7:4971600-4971800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr7:4971600-4972000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr7:4971600-4972000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:4971600-4972000	Active TSS	Brain Angular Gyrus	brain
28	chr7:4971600-4972000	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr7:4971600-4972200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:4971600-4972200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:4971600-4972200	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr7:4971600-4972200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr7:4971600-4972200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:4971600-4972400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:4971800-4972200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr7:4971800-4973200	Enhancers	Brain Substantia Nigra	brain
37	chr7:4972000-4972800	Enhancers	Brain Angular Gyrus	brain
38	chr7:4972000-4972800	Enhancers	Brain Cingulate Gyrus	brain
39	chr7:4972200-4972400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:4972200-4972400	Enhancers	Brain Hippocampus Middle	brain
41	chr7:4972200-4972600	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr7:4972400-4979000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:4972600-4979600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr7:4972600-4979800	Weak transcription	Brain Anterior Caudate	brain
45	chr7:4972800-4974200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr7:4973000-4974200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:4973200-4974200	Weak transcription	Brain Substantia Nigra	brain
48	chr7:4973400-4973800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr7:4973800-4974600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr7:4974200-4974400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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