Variant report

Variant	esv2830176
Chromosome Location	chr7:70387953-70409319
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 628 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:628 , 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	rs940728	chr7:70387953-70387954	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552217368	chr7:70387972-70387973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576684947	chr7:70387978-70387979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs5884805	chr7:70387979-70387980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185003306	chr7:70387982-70387983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201504503	chr7:70387984-70387985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375754741	chr7:70387985-70387986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375004862	chr7:70387990-70387991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs199990535	chr7:70387991-70387992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528071701	chr7:70388013-70388014	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs546317475	chr7:70388027-70388028	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs372291924	chr7:70388113-70388114	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs76440919	chr7:70388114-70388115	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs541992905	chr7:70388160-70388161	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs2103170	chr7:70388178-70388179	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs117456991	chr7:70388205-70388206	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs10262493	chr7:70388207-70388208	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs151331419	chr7:70388222-70388223	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs139391709	chr7:70388242-70388243	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs150037733	chr7:70388243-70388244	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs370724538	chr7:70388258-70388259	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs534189936	chr7:70388275-70388276	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs555525582	chr7:70388294-70388295	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs4145377	chr7:70388317-70388318	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs80286138	chr7:70388379-70388380	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs36033099	chr7:70388384-70388385	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs375055305	chr7:70388399-70388400	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs112766959	chr7:70388473-70388474	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs573702668	chr7:70388488-70388489	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs74941755	chr7:70388530-70388531	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs4145379	chr7:70388533-70388534	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs577790527	chr7:70388534-70388535	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs180912117	chr7:70388540-70388541	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs4145378	chr7:70388629-70388630	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs528218597	chr7:70388647-70388648	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs564824536	chr7:70388692-70388693	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs561626053	chr7:70388704-70388705	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs147706727	chr7:70388739-70388740	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs533485387	chr7:70388755-70388756	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs6958044	chr7:70388758-70388759	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs568128081	chr7:70388761-70388762	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs183749081	chr7:70388777-70388778	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs533134444	chr7:70388812-70388813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189791344	chr7:70388878-70388879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551327201	chr7:70388889-70388890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370334044	chr7:70388910-70388911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533991315	chr7:70388916-70388917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142480595	chr7:70388933-70388934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376978059	chr7:70388939-70388940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537872930	chr7:70388961-70388962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Dyslexia	22102821	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70373200-70400200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:70384800-70390200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr7:70384800-70390200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:70384800-70390200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:70385000-70388000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:70385000-70388000	Weak transcription	Fetal Lung	lung
7	chr7:70385000-70390200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:70386200-70388200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:70386400-70388000	Weak transcription	Fetal Intestine Small	intestine
10	chr7:70386400-70388200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:70387000-70388000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:70387200-70388200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:70387800-70388600	Enhancers	Fetal Kidney	kidney
14	chr7:70387800-70388800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:70387800-70388800	Enhancers	Fetal Intestine Large	intestine
16	chr7:70388000-70388400	Flanking Active TSS	Fetal Lung	lung
17	chr7:70388000-70388800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:70388000-70388800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr7:70388000-70388800	Enhancers	Fetal Intestine Small	intestine
20	chr7:70388000-70388800	Enhancers	Fetal Muscle Leg	muscle
21	chr7:70388200-70388600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr7:70388200-70388800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr7:70388200-70388800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:70388200-70388800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:70388200-70388800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:70388400-70388600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr7:70388400-70388600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:70388400-70388800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:70388400-70388800	Enhancers	Fetal Lung	lung
30	chr7:70388400-70388800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr7:70388600-70388800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr7:70388600-70388800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:70388600-70388800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr7:70388600-70391600	Weak transcription	Fetal Kidney	kidney
35	chr7:70388800-70390000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr7:70388800-70390000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:70388800-70390000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:70388800-70390000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:70388800-70390200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr7:70388800-70390200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr7:70388800-70390200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr7:70388800-70390400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:70388800-70390600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:70388800-70390600	Weak transcription	Fetal Intestine Large	intestine
45	chr7:70390000-70390200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:70390000-70390800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr7:70390000-70390800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr7:70390000-70390800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr7:70390200-70390600	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr7:70390200-70390600	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links