Variant report

Variant	esv3443374
Chromosome Location	chr7:127913957-127914359
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127912261..127914100-chr7:127920711..127922537,2	K562	blood:
2	chr7:127904719..127907054-chr7:127912432..127915096,2	K562	blood:
3	chr7:127913044..127915335-chr7:127992240..127993797,2	K562	blood:
4	chr7:127913502..127915007-chr7:127983264..127985106,2	K562	blood:
5	chr7:127910354..127914440-chr7:127916901..127919443,4	K562	blood:
6	chr7:127907822..127910033-chr7:127912137..127914514,2	K562	blood:

Variant related genes	Relation type
ENSG00000106344	chromatin interactions
ENSG00000238750	chromatin interactions
ENSG00000272915	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527444683	chr7:127913989-127913990	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs139150799	chr7:127914026-127914027	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs567343009	chr7:127914069-127914070	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs537953607	chr7:127914073-127914074	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs183785525	chr7:127914080-127914081	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs571197517	chr7:127914086-127914087	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs149944528	chr7:127914124-127914125	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs554437841	chr7:127914135-127914136	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs572657815	chr7:127914137-127914138	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs5887365	chr7:127914153-127914154	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs542764413	chr7:127914218-127914219	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs145085780	chr7:127914257-127914258	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs372551756	chr7:127914261-127914262	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs201878711	chr7:127914267-127914268	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs4728100	chr7:127914342-127914343	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs543098533	chr7:127914353-127914354	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	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
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Retinitis pigmentosa	17160897	CNVD
Colorblindness	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127908400-127921800	Weak transcription	HSMM	muscle
2	chr7:127911800-127915600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:127912000-127915200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:127912200-127914400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:127912200-127914600	Weak transcription	Liver	Liver
6	chr7:127912200-127915800	Weak transcription	Spleen	Spleen
7	chr7:127912200-127921600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:127912200-127925200	Weak transcription	Ovary	ovary
9	chr7:127912400-127914400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr7:127912400-127921400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:127912400-127921600	Weak transcription	Brain Angular Gyrus	brain
12	chr7:127912600-127914600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:127912600-127914800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr7:127912600-127914800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:127912600-127915600	Weak transcription	Right Atrium	heart
16	chr7:127912800-127914000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr7:127912800-127914200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr7:127912800-127914400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr7:127913800-127914200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:127913800-127914600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:127914200-127914400	Enhancers	HepG2	liver
22	chr7:127914200-127914800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:127914200-127914800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr7:127914200-127914800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr7:127914200-127915000	Bivalent Enhancer	Fetal Intestine Large	intestine

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