Variant report

Variant	esv33380
Chromosome Location	chr7:117768471-117793477
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:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:117780666..117783113-chr7:117815152..117816671,2	K562	blood:
2	chr7:117040268..117040811-chr7:117792683..117793222,2	K562	blood:
3	chr7:117355545..117356437-chr7:117793373..117793993,2	MCF-7	breast:
4	chr7:117792505..117794134-chr7:117837460..117839603,2	K562	blood:
5	chr7:117390392..117391300-chr7:117793147..117794278,5	MCF-7	breast:
6	chr7:117780592..117783227-chr7:117785006..117787831,2	K562	blood:
7	chr7:117782847..117784841-chr7:117824081..117825939,2	K562	blood:
8	chr7:117098775..117099697-chr7:117793439..117793946,2	K562	blood:
9	chr7:117780592..117783227-chr7:117785006..117787831,2	K562	blood:
10	chr7:117792959..117795315-chr7:117796416..117799044,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTTNBP2-3	chr7:117792883-117793373	XLOC_006578

No data

Variant related genes	Relation type
ENSG00000128534	chromatin interactions

Extended variants
information (count: 648 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:648 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150772701	chr7:117768618-117768619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561763172	chr7:117768640-117768641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs193274526	chr7:117768651-117768652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185420952	chr7:117768725-117768726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139178320	chr7:117768741-117768742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557774423	chr7:117768751-117768752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527286734	chr7:117768769-117768770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547316291	chr7:117768820-117768821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149963054	chr7:117768837-117768838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145120628	chr7:117768848-117768849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569406552	chr7:117768883-117768884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563022364	chr7:117768903-117768904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570398051	chr7:117768907-117768908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539265437	chr7:117768912-117768913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530245116	chr7:117768926-117768927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190369922	chr7:117768929-117768930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139498239	chr7:117768939-117768940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181642989	chr7:117768994-117768995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371608734	chr7:117769013-117769014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552390013	chr7:117769030-117769031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549467617	chr7:117769056-117769057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144228085	chr7:117769061-117769062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114911000	chr7:117769068-117769069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62469804	chr7:117769130-117769131	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs369745002	chr7:117769279-117769280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568335617	chr7:117769298-117769299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535647263	chr7:117769302-117769303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184338907	chr7:117769305-117769306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146575409	chr7:117769309-117769310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12669081	chr7:117769310-117769311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116922228	chr7:117769338-117769339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188646303	chr7:117769383-117769384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536607226	chr7:117769386-117769387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556821654	chr7:117769433-117769434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574754208	chr7:117769453-117769454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145085491	chr7:117769460-117769461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560365384	chr7:117769525-117769526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572284139	chr7:117769541-117769542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181118664	chr7:117769595-117769596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546313934	chr7:117769611-117769612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564391231	chr7:117769627-117769628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531753785	chr7:117769639-117769640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111715704	chr7:117769646-117769647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549858534	chr7:117769653-117769654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561971953	chr7:117769660-117769661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs151305097	chr7:117769727-117769728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547711142	chr7:117769823-117769824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13438639	chr7:117769839-117769840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574352870	chr7:117769888-117769889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539239215	chr7:117769893-117769894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117768600-117768800	Enhancers	Fetal Brain Male	brain
2	chr7:117768600-117769400	Enhancers	Primary B cells from peripheral blood	blood
3	chr7:117768600-117769400	Enhancers	Fetal Brain Female	brain
4	chr7:117768600-117769800	Enhancers	Primary hematopoietic stem cells	blood
5	chr7:117768600-117769800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:117768600-117769800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:117768600-117770400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr7:117768800-117773400	Weak transcription	Fetal Brain Male	brain
9	chr7:117769000-117769400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:117769000-117769400	Enhancers	Adipose Nuclei	Adipose
11	chr7:117769400-117773000	Weak transcription	Fetal Brain Female	brain
12	chr7:117770400-117771200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr7:117772400-117772600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr7:117773000-117773600	Enhancers	Fetal Brain Female	brain
15	chr7:117773400-117773800	Enhancers	Fetal Brain Male	brain
16	chr7:117779600-117792200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:117780000-117781400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:117780600-117781600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr7:117781000-117781400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr7:117781000-117781400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr7:117785200-117786000	Enhancers	Fetal Brain Female	brain
22	chr7:117785800-117786200	Enhancers	Fetal Brain Male	brain
23	chr7:117788200-117790800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:117788600-117789600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr7:117788800-117789200	Enhancers	Fetal Heart	heart
26	chr7:117789000-117789600	Enhancers	Fetal Lung	lung
27	chr7:117789000-117790200	Enhancers	Adipose Nuclei	Adipose
28	chr7:117789200-117790600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:117789600-117791800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr7:117790200-117792000	Weak transcription	Adipose Nuclei	Adipose
31	chr7:117790400-117790600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr7:117790600-117791600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr7:117790600-117791800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:117790800-117792000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:117791200-117815800	Weak transcription	Psoas Muscle	Psoas
36	chr7:117791400-117793200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr7:117791400-117793200	Enhancers	H1 Cell Line	embryonic stem cell
38	chr7:117791600-117791800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr7:117791600-117792000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr7:117791600-117793800	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr7:117791600-117793800	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr7:117791800-117792000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr7:117791800-117792400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr7:117791800-117793000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr7:117791800-117793000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr7:117791800-117793600	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr7:117791800-117793800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:117792000-117792600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr7:117792000-117792600	Enhancers	Osteobl	bone
50	chr7:117792000-117793000	Enhancers	H9 Cell Line	embryonic stem cell

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