Variant report

Variant	esv3406065
Chromosome Location	chr7:71672216-71676414
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 217 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:217 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181388320	chr7:71672233-71672234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540681114	chr7:71672257-71672258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565263845	chr7:71672258-71672259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532549473	chr7:71672314-71672315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147753138	chr7:71672321-71672322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566162224	chr7:71672368-71672369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185239481	chr7:71672378-71672379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548522965	chr7:71672419-71672420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560397399	chr7:71672446-71672447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143383474	chr7:71672452-71672453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574139508	chr7:71672453-71672454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs57532477	chr7:71672478-71672479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570080114	chr7:71672498-71672499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117242197	chr7:71672508-71672509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556481714	chr7:71672514-71672515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs578029395	chr7:71672519-71672520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538826903	chr7:71672536-71672537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553691237	chr7:71672552-71672553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572068498	chr7:71672598-71672599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201829563	chr7:71672615-71672616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542374484	chr7:71672622-71672623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138621315	chr7:71672647-71672648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563107313	chr7:71672656-71672657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190037780	chr7:71672672-71672673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575609009	chr7:71672717-71672718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532031606	chr7:71672721-71672722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541163957	chr7:71672761-71672762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374954771	chr7:71672814-71672815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532714232	chr7:71672827-71672828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547923204	chr7:71672831-71672832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367561636	chr7:71672884-71672885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34131971	chr7:71672894-71672895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530173680	chr7:71672930-71672931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183338803	chr7:71672982-71672983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570198760	chr7:71673007-71673008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187937584	chr7:71673026-71673027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552650218	chr7:71673039-71673040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571522891	chr7:71673114-71673115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538568890	chr7:71673125-71673126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372344791	chr7:71673161-71673162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565761120	chr7:71673196-71673197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191397730	chr7:71673209-71673210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554226796	chr7:71673213-71673214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78939980	chr7:71673214-71673215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs510451	chr7:71673221-71673222	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs536128	chr7:71673239-71673240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs149026153	chr7:71673248-71673249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143036285	chr7:71673257-71673258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571223533	chr7:71673260-71673261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs511253	chr7:71673304-71673305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71641200-71686800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr7:71666400-71676200	Weak transcription	Fetal Thymus	thymus
3	chr7:71672200-71672400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:71672400-71673400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:71673200-71687200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:71673400-71674200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:71673800-71674000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
8	chr7:71673800-71674200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:71676200-71676400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr7:71676200-71676600	Enhancers	Brain Anterior Caudate	brain
11	chr7:71676200-71676600	Enhancers	K562	blood
12	chr7:71676200-71677600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:71676200-71677800	Strong transcription	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links