Variant report

Variant	esv2752146
Chromosome Location	chr7:117739049-117792049
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:117745122..117747817-chr7:117823192..117825708,3	K562	blood:
2	chr7:117390270..117390904-chr7:117744533..117745270,2	MCF-7	breast:
3	chr7:117633330..117634009-chr7:117744599..117745110,2	MCF-7	breast:
4	chr7:117780666..117783113-chr7:117815152..117816671,2	K562	blood:
5	chr7:117782847..117784841-chr7:117824081..117825939,2	K562	blood:
6	chr7:117780592..117783227-chr7:117785006..117787831,2	K562	blood:
7	chr7:117390394..117391348-chr7:117744572..117745600,6	MCF-7	breast:
8	chr7:117780592..117783227-chr7:117785006..117787831,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000128534	chromatin interactions

Extended variants
information (count: 803 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:803 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182447433	chr7:117739078-117739079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576475414	chr7:117739138-117739139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544183466	chr7:117739190-117739191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187130599	chr7:117739216-117739217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373407720	chr7:117739238-117739239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542877598	chr7:117739251-117739252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561435215	chr7:117739252-117739253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559671613	chr7:117739312-117739313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143047491	chr7:117739323-117739324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565377339	chr7:117739338-117739339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376543895	chr7:117739396-117739397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6466643	chr7:117739400-117739401	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs200923979	chr7:117739409-117739410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569077288	chr7:117739459-117739460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12539539	chr7:117739521-117739522	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs548092321	chr7:117739549-117739550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548175519	chr7:117739551-117739552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79085599	chr7:117739598-117739599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148733176	chr7:117742403-117742404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543083412	chr7:117742458-117742459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115901538	chr7:117742484-117742485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113896404	chr7:117742504-117742505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181341432	chr7:117742518-117742519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184600938	chr7:117742524-117742525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376945477	chr7:117742553-117742554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144737948	chr7:117742562-117742563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564663602	chr7:117742603-117742604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62469768	chr7:117742623-117742624	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs77386702	chr7:117742681-117742682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571602706	chr7:117742695-117742696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543626118	chr7:117742704-117742705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367777393	chr7:117742733-117742734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561690476	chr7:117742792-117742793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186296715	chr7:117745149-117745150	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs559606879	chr7:117745166-117745167	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs7806490	chr7:117745213-117745214	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs551926464	chr7:117745286-117745287	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs563652890	chr7:117745300-117745301	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs17140846	chr7:117745350-117745351	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs549406307	chr7:117745550-117745551	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs73716913	chr7:117745578-117745579	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs535014884	chr7:117745588-117745589	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs578251681	chr7:117745615-117745616	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs544165877	chr7:117745629-117745630	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs546956682	chr7:117745678-117745679	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs115432041	chr7:117745691-117745692	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs548623514	chr7:117745701-117745702	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs191150096	chr7:117745716-117745717	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs563968095	chr7:117745723-117745724	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs182571297	chr7:117745755-117745756	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117738600-117739200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:117738600-117739200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:117738600-117739200	Enhancers	HMEC	breast
4	chr7:117738600-117739400	Enhancers	NHEK	skin
5	chr7:117738600-117739600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:117742400-117742800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:117746600-117747200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr7:117749200-117750000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr7:117749400-117750400	Enhancers	A549	lung
10	chr7:117750800-117751800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:117751000-117751600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:117751400-117751800	Enhancers	HMEC	breast
13	chr7:117768600-117768800	Enhancers	Fetal Brain Male	brain
14	chr7:117768600-117769400	Enhancers	Primary B cells from peripheral blood	blood
15	chr7:117768600-117769400	Enhancers	Fetal Brain Female	brain
16	chr7:117768600-117769800	Enhancers	Primary hematopoietic stem cells	blood
17	chr7:117768600-117769800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:117768600-117769800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:117768600-117770400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr7:117768800-117773400	Weak transcription	Fetal Brain Male	brain
21	chr7:117769000-117769400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:117769000-117769400	Enhancers	Adipose Nuclei	Adipose
23	chr7:117769400-117773000	Weak transcription	Fetal Brain Female	brain
24	chr7:117770400-117771200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr7:117772400-117772600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr7:117773000-117773600	Enhancers	Fetal Brain Female	brain
27	chr7:117773400-117773800	Enhancers	Fetal Brain Male	brain
28	chr7:117779600-117792200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:117780000-117781400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:117780600-117781600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr7:117781000-117781400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr7:117781000-117781400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr7:117785200-117786000	Enhancers	Fetal Brain Female	brain
34	chr7:117785800-117786200	Enhancers	Fetal Brain Male	brain
35	chr7:117788200-117790800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:117788600-117789600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr7:117788800-117789200	Enhancers	Fetal Heart	heart
38	chr7:117789000-117789600	Enhancers	Fetal Lung	lung
39	chr7:117789000-117790200	Enhancers	Adipose Nuclei	Adipose
40	chr7:117789200-117790600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:117789600-117791800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr7:117790200-117792000	Weak transcription	Adipose Nuclei	Adipose
43	chr7:117790400-117790600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr7:117790600-117791600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr7:117790600-117791800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:117790800-117792000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:117791200-117815800	Weak transcription	Psoas Muscle	Psoas
48	chr7:117791400-117793200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr7:117791400-117793200	Enhancers	H1 Cell Line	embryonic stem cell
50	chr7:117791600-117791800	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links