Variant report

Variant	esv3424871
Chromosome Location	chr7:150055219-150058517
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150014201..150017150-chr7:150057916..150059881,2	K562	blood:
2	chr7:150018896..150021417-chr7:150052891..150055255,2	MCF-7	breast:
3	chr7:150018681..150020697-chr7:150058439..150060132,2	MCF-7	breast:
4	chr7:150019173..150023075-chr7:150052530..150058157,7	K562	blood:
5	chr7:150055052..150056576-chr7:150057801..150059416,2	K562	blood:
6	chr7:150047669..150050578-chr7:150054703..150056405,2	MCF-7	breast:
7	chr7:150058189..150060647-chr7:150112613..150115187,2	MCF-7	breast:
8	chr7:150041697..150043495-chr7:150057616..150059500,2	K562	blood:
9	chr7:150013529..150015903-chr7:150058495..150060887,2	K562	blood:
10	chr7:150009132..150011651-chr7:150053831..150057388,3	K562	blood:
11	chr7:150055052..150056576-chr7:150057801..150059416,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000127399	chromatin interactions
ENSG00000106526	chromatin interactions

Extended variants
information (count: 146 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551247767	chr7:150055263-150055264	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs567911598	chr7:150055264-150055265	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs192142208	chr7:150055274-150055275	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs367752706	chr7:150055328-150055329	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs138672165	chr7:150055385-150055386	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs117588031	chr7:150055387-150055388	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs558399742	chr7:150055404-150055405	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs575159194	chr7:150055414-150055415	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs573900370	chr7:150055489-150055490	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs548300743	chr7:150055519-150055520	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs34821817	chr7:150055538-150055539	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs543909521	chr7:150055562-150055563	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs184506381	chr7:150055650-150055651	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs531869490	chr7:150055693-150055694	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs114399816	chr7:150055713-150055714	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs149241880	chr7:150055727-150055728	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs1568781	chr7:150055731-150055732	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs61302151	chr7:150055762-150055763	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs115050657	chr7:150055763-150055764	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs528536342	chr7:150055836-150055837	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs144419864	chr7:150055874-150055875	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs137884295	chr7:150055909-150055910	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs530932480	chr7:150055972-150055973	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs368097840	chr7:150056045-150056046	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs550702291	chr7:150056050-150056051	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs567908192	chr7:150056059-150056060	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs74706934	chr7:150056109-150056110	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs547191319	chr7:150056131-150056132	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs567050519	chr7:150056141-150056142	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs568406431	chr7:150056200-150056201	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs142112453	chr7:150056245-150056246	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs201261003	chr7:150056255-150056256	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs142425752	chr7:150056266-150056267	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs202190255	chr7:150056295-150056296	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs201653406	chr7:150056320-150056321	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs199944318	chr7:150056323-150056324	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs558608804	chr7:150056340-150056341	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs568904379	chr7:150056341-150056342	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs537798827	chr7:150056417-150056418	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs188403641	chr7:150056425-150056426	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs574355724	chr7:150056464-150056465	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs540158152	chr7:150056473-150056474	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs200478045	chr7:150056511-150056512	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs553677525	chr7:150056520-150056521	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs142549667	chr7:150056535-150056536	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs576612615	chr7:150056574-150056575	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs551324369	chr7:150056614-150056615	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs111161470	chr7:150056639-150056640	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs201882943	chr7:150056677-150056678	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs199817458	chr7:150056698-150056699	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Congenital long qt syndrome	19214780	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150039200-150065000	Weak transcription	Right Atrium	heart
2	chr7:150044000-150058000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:150051200-150056600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:150052000-150061000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr7:150052200-150056600	Enhancers	Primary hematopoietic stem cells	blood
6	chr7:150053000-150056400	Weak transcription	Fetal Kidney	kidney
7	chr7:150053000-150058000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr7:150053000-150058400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:150053200-150065000	Enhancers	Fetal Thymus	thymus
10	chr7:150053400-150056400	Enhancers	Primary T cells from cord blood	blood
11	chr7:150053400-150056400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:150053400-150056600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr7:150053800-150055400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:150053800-150055400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:150053800-150055400	Enhancers	HSMMtube	muscle
16	chr7:150053800-150055600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr7:150053800-150056800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr7:150054200-150055400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:150054200-150056800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:150054400-150055400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr7:150054400-150055400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:150054600-150055400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr7:150054600-150055400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr7:150054600-150055600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr7:150054600-150055800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:150054600-150055800	Enhancers	HMEC	breast
27	chr7:150054600-150057800	Enhancers	Thymus	Thymus
28	chr7:150054800-150055400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:150054800-150055400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:150054800-150055400	Flanking Active TSS	K562	blood
31	chr7:150054800-150056000	Enhancers	GM12878-XiMat	blood
32	chr7:150054800-150058600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:150055000-150055400	Weak transcription	Liver	Liver
34	chr7:150055000-150055800	Enhancers	HepG2	liver
35	chr7:150055000-150056000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr7:150055000-150056200	Weak transcription	Fetal Intestine Large	intestine
37	chr7:150055000-150057200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr7:150055000-150058800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr7:150055200-150055600	Enhancers	Dnd41	blood
40	chr7:150055200-150056400	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr7:150055200-150056600	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr7:150055200-150056800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:150055200-150057000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr7:150055200-150057200	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr7:150055200-150057200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:150055200-150057200	Weak transcription	Gastric	stomach
47	chr7:150055200-150058400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr7:150055200-150058400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr7:150055200-150058600	Weak transcription	Placenta	Placenta
50	chr7:150055200-150059200	Weak transcription	Primary B cells from cord blood	blood

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