Variant report

Variant	nsv1017911
Chromosome Location	chr7:71665417-71714246
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:71698392..71700394-chr7:71705051..71707157,2	K562	blood:
2	chr7:71698392..71700394-chr7:71705051..71707157,2	K562	blood:
3	chr7:71663421..71665320-chr7:71669615..71672136,2	K562	blood:
4	chr1:64494077..64494875-chr7:71705794..71706323,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207190	chromatin interactions

Extended variants
information (count: 2398 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2398 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs579699	chr7:71665417-71665418	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183990939	chr7:71665533-71665534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545109622	chr7:71665534-71665535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557895716	chr7:71665562-71665563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560082803	chr7:71665583-71665584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188775059	chr7:71665625-71665626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34500353	chr7:71665630-71665631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542639457	chr7:71665632-71665633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34609392	chr7:71665653-71665654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs875499	chr7:71665669-71665670	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs529226528	chr7:71665718-71665719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550496277	chr7:71665721-71665722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540451976	chr7:71665792-71665793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143977961	chr7:71665800-71665801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148660866	chr7:71665811-71665812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560114731	chr7:71665908-71665909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551514198	chr7:71665937-71665938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566601567	chr7:71665959-71665960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528891259	chr7:71665975-71665976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142182020	chr7:71665977-71665978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567863327	chr7:71665991-71665992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375789192	chr7:71665993-71665994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370190100	chr7:71666009-71666010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs180746161	chr7:71666021-71666022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185900982	chr7:71666037-71666038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116756795	chr7:71666069-71666070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189574283	chr7:71666074-71666075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553826763	chr7:71666117-71666118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573872843	chr7:71666124-71666125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150790999	chr7:71666126-71666127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542602648	chr7:71666145-71666146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111775809	chr7:71666146-71666147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573803577	chr7:71666147-71666148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182101464	chr7:71666157-71666158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139426718	chr7:71666159-71666160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200257166	chr7:71666191-71666192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551638629	chr7:71666220-71666221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562068979	chr7:71666256-71666257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187646156	chr7:71666302-71666303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527432265	chr7:71666312-71666313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550628282	chr7:71666360-71666361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564264372	chr7:71666382-71666383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548655975	chr7:71666416-71666417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567264043	chr7:71666427-71666428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11974341	chr7:71666447-71666448	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs550472818	chr7:71666468-71666469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571634789	chr7:71666469-71666470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538830757	chr7:71666473-71666474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs386714588	chr7:71666475-71666476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553986190	chr7:71666478-71666479	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71641200-71686800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr7:71661000-71665600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:71663000-71665600	Weak transcription	Thymus	Thymus
4	chr7:71664800-71665600	Weak transcription	Fetal Thymus	thymus
5	chr7:71665200-71665600	Enhancers	Fetal Brain Male	brain
6	chr7:71665400-71666000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:71665400-71666400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:71665600-71665800	Enhancers	Primary hematopoietic stem cells	blood
9	chr7:71665600-71665800	Enhancers	Fetal Thymus	thymus
10	chr7:71665600-71665800	Enhancers	Thymus	Thymus
11	chr7:71665600-71667000	Weak transcription	Fetal Brain Male	brain
12	chr7:71665800-71666200	Weak transcription	Fetal Thymus	thymus
13	chr7:71666200-71666400	Enhancers	Fetal Thymus	thymus
14	chr7:71666400-71666800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:71666400-71676200	Weak transcription	Fetal Thymus	thymus
16	chr7:71666800-71667000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:71667000-71667200	Enhancers	Fetal Brain Male	brain
18	chr7:71667000-71669600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:71669600-71669800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:71672200-71672400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:71672400-71673400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:71673200-71687200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:71673400-71674200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:71673800-71674000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
25	chr7:71673800-71674200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr7:71676200-71676400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr7:71676200-71676600	Enhancers	Brain Anterior Caudate	brain
28	chr7:71676200-71676600	Enhancers	K562	blood
29	chr7:71676200-71677600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:71676200-71677800	Strong transcription	Fetal Thymus	thymus
31	chr7:71676600-71676800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr7:71676600-71677000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:71676600-71678200	Weak transcription	Brain Anterior Caudate	brain
34	chr7:71676800-71678600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr7:71677000-71682000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:71677600-71681400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:71677800-71678600	Enhancers	Brain Hippocampus Middle	brain
38	chr7:71677800-71678800	Genic enhancers	Fetal Thymus	thymus
39	chr7:71678000-71678200	Enhancers	Thymus	Thymus
40	chr7:71678000-71678400	Enhancers	Brain Cingulate Gyrus	brain
41	chr7:71678000-71678800	Enhancers	Brain Substantia Nigra	brain
42	chr7:71678000-71679000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:71678000-71679000	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr7:71678200-71678600	Enhancers	Brain Anterior Caudate	brain
45	chr7:71678200-71678600	Weak transcription	Thymus	Thymus
46	chr7:71678400-71678800	Enhancers	Brain Angular Gyrus	brain
47	chr7:71678600-71679000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr7:71678600-71679000	ZNF genes & repeats	Thymus	Thymus
49	chr7:71678800-71680600	Weak transcription	Fetal Thymus	thymus
50	chr7:71679000-71686400	Weak transcription	Thymus	Thymus

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