Variant report

Variant	esv2762702
Chromosome Location	chr7:124121566-124149797
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:124116352..124119655-chr7:124119768..124122495,3	MCF-7	breast:
2	chr7:124136314..124138720-chr7:124182818..124185016,2	K562	blood:
3	chr7:124086263..124087904-chr7:124128230..124129878,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230268	chromatin interactions

Extended variants
information (count: 543 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:543 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1990255	chr7:124121566-124121567	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540823164	chr7:124121689-124121690	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs138808689	chr7:124121703-124121704	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs368073408	chr7:124121711-124121712	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs532853337	chr7:124121791-124121792	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs544589873	chr7:124121830-124121831	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs192739637	chr7:124121874-124121875	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs563152475	chr7:124121909-124121910	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs531776465	chr7:124121912-124121913	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs548595300	chr7:124121945-124121946	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs113917027	chr7:124121989-124121990	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs527740404	chr7:124122095-124122096	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs78665316	chr7:124122131-124122132	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs147663383	chr7:124122170-124122171	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs371650907	chr7:124122238-124122239	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs539743317	chr7:124122241-124122242	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs550769787	chr7:124122260-124122261	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs569604869	chr7:124122265-124122266	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs575167593	chr7:124122275-124122276	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs535124772	chr7:124122302-124122303	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs148047630	chr7:124122303-124122304	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs374532548	chr7:124122306-124122307	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs6979375	chr7:124122321-124122322	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs546818638	chr7:124122348-124122349	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs572115697	chr7:124122354-124122355	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs540731592	chr7:124122371-124122372	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs185433962	chr7:124122379-124122380	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs577392337	chr7:124122381-124122382	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs546402876	chr7:124122431-124122432	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs563217580	chr7:124122473-124122474	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs576808537	chr7:124122492-124122493	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs76986789	chr7:124122513-124122514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561896632	chr7:124122548-124122549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527802403	chr7:124122561-124122562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373184786	chr7:124122600-124122601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551950951	chr7:124122641-124122642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139672520	chr7:124122663-124122664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564583101	chr7:124122665-124122666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189516075	chr7:124122680-124122681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149777090	chr7:124122715-124122716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569617186	chr7:124122736-124122737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535324534	chr7:124122750-124122751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79360218	chr7:124122770-124122771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537020527	chr7:124122811-124122812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145840882	chr7:124122858-124122859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534586787	chr7:124122872-124122873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557600601	chr7:124122904-124122905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577659862	chr7:124122905-124122906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552549028	chr7:124122909-124122910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540087988	chr7:124122963-124122964	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124120600-124121600	Weak transcription	Fetal Heart	heart
2	chr7:124121600-124122400	Enhancers	Fetal Heart	heart
3	chr7:124121800-124123000	Enhancers	A549	lung
4	chr7:124122200-124122600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:124125200-124125800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:124125400-124125800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:124125400-124125800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:124128400-124129200	Enhancers	Liver	Liver
9	chr7:124129200-124129800	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr7:124129200-124130600	Flanking Active TSS	Liver	Liver
11	chr7:124129200-124130600	Enhancers	HepG2	liver
12	chr7:124129800-124130000	Flanking Active TSS	Brain Cingulate Gyrus	brain
13	chr7:124129800-124130000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr7:124129800-124130200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr7:124129800-124130400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr7:124129800-124130600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr7:124129800-124130600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:124129800-124130600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr7:124129800-124130600	Active TSS	Brain Angular Gyrus	brain
20	chr7:124129800-124130600	Active TSS	Brain Hippocampus Middle	brain
21	chr7:124129800-124130800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr7:124129800-124130800	Active TSS	Brain Substantia Nigra	brain
23	chr7:124129800-124130800	Active TSS	A549	lung
24	chr7:124130000-124130400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:124130000-124130400	Active TSS	Brain Anterior Caudate	brain
26	chr7:124130000-124130600	Active TSS	Brain Cingulate Gyrus	brain
27	chr7:124130000-124130600	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr7:124130000-124130600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:124130000-124130800	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr7:124130400-124130800	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr7:124130600-124130800	Enhancers	Liver	Liver
32	chr7:124130600-124130800	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr7:124130800-124131000	Enhancers	Brain Anterior Caudate	brain
34	chr7:124130800-124131000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr7:124131000-124131400	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr7:124131400-124137600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr7:124137600-124138000	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr7:124140800-124141800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:124141800-124142200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:124142200-124142600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:124149600-124149800	Enhancers	Fetal Lung	lung

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