Variant report

Variant	nsv1020488
Chromosome Location	chr7:69465268-69671126
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:46)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:69626862..69629623-chr7:69629707..69632566,3	K562	blood:
2	chr7:67257876..67258792-chr7:69506066..69506610,2	MCF-7	breast:
3	chr7:69590843..69592598-chr7:69593553..69595231,2	K562	blood:
4	chr7:69621516..69623833-chr7:69634958..69637045,2	K562	blood:
5	chr7:69507502..69508119-chr7:69626360..69626921,2	MCF-7	breast:
6	chr7:66842963..66843775-chr7:69626464..69627151,2	K562	blood:
7	chr7:69507259..69508393-chr7:70162935..70163782,5	MCF-7	breast:
8	chr7:69607304..69608995-chr7:69609014..69610911,2	K562	blood:
9	chr7:69626862..69629623-chr7:69629707..69632566,3	K562	blood:
10	chr7:69608209..69611177-chr7:69636150..69638480,2	K562	blood:
11	chr7:69507502..69508119-chr7:69626360..69626921,2	MCF-7	breast:
12	chr7:69652043..69654118-chr7:69657486..69659961,3	MCF-7	breast:
13	chr7:69507240..69508178-chr7:69626181..69627189,3	MCF-7	breast:
14	chr7:66842895..66843844-chr7:69506111..69506611,2	K562	blood:
15	chr7:69499839..69501750-chr7:69505112..69507033,2	K562	blood:
16	chr7:69507131..69507765-chr7:69626314..69626849,2	MCF-7	breast:
17	chr7:69492662..69494533-chr7:69494789..69496993,2	MCF-7	breast:
18	chr7:69621516..69623833-chr7:69634958..69637045,2	K562	blood:
19	chr7:69626862..69629623-chr7:69629707..69632566,2	K562	blood:
20	chr7:67642131..67642666-chr7:69626249..69626967,2	K562	blood:
21	chr7:69423156..69425237-chr7:69469774..69471942,2	MCF-7	breast:
22	chr7:69608209..69611177-chr7:69636150..69638480,2	K562	blood:
23	chr7:69521541..69523316-chr7:69526522..69528955,2	K562	blood:
24	chr14:68919841..68921381-chr7:69620883..69622403,2	K562	blood:
25	chr7:69590843..69592598-chr7:69593553..69595231,2	K562	blood:
26	chr7:69567637..69569210-chr7:69569359..69572320,2	K562	blood:
27	chr7:69472277..69474938-chr7:69476537..69478191,2	K562	blood:
28	chr7:69567637..69569210-chr7:69569359..69572320,2	K562	blood:
29	chr7:69602728..69605525-chr7:69605927..69608020,2	K562	blood:
30	chr7:69560759..69562378-chr7:69565105..69567328,2	MCF-7	breast:
31	chr7:69602728..69605525-chr7:69605927..69608020,2	K562	blood:
32	chr7:69492662..69494533-chr7:69494789..69496993,2	MCF-7	breast:
33	chr7:69521541..69523316-chr7:69526522..69528955,2	K562	blood:
34	chr7:69497223..69498827-chr7:75682807..75685073,2	MCF-7	breast:
35	chr7:69499053..69501725-chr7:69503584..69505273,2	MCF-7	breast:
36	chr7:69652043..69654118-chr7:69657486..69659961,3	MCF-7	breast:
37	chr7:69499839..69501750-chr7:69505112..69507033,2	K562	blood:
38	chr7:69507131..69507765-chr7:69626314..69626849,2	MCF-7	breast:
39	chr7:69560759..69562378-chr7:69565105..69567328,2	MCF-7	breast:
40	chr7:69459148..69462116-chr7:69464154..69466270,2	K562	blood:
41	chr7:69626862..69629623-chr7:69629707..69632566,2	K562	blood:
42	chr7:69607304..69608995-chr7:69609014..69610911,2	K562	blood:
43	chr7:69396739..69397519-chr7:69507195..69508169,2	MCF-7	breast:
44	chr7:69507240..69508178-chr7:69626181..69627189,3	MCF-7	breast:
45	chr7:69499053..69501725-chr7:69503584..69505273,2	MCF-7	breast:
46	chr7:69472277..69474938-chr7:69476537..69478191,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CALN1-5	chr7:69618716-69618925	uc_219_-
2	lnc-WBSCR17-6	chr7:69618716-69618925	uc_219_+

No data

Variant related genes	Relation type
ENSG00000146701	chromatin interactions

Extended variants
information (count: 6611 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:6611 , 50 per page) page: 1 2 3 4 5 6 7 ... 133

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553572863	chr7:69465280-69465281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183566097	chr7:69465308-69465309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187703956	chr7:69465312-69465313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143122909	chr7:69465319-69465320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200709478	chr7:69465337-69465338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73168794	chr7:69465368-69465369	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs543453990	chr7:69465372-69465373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78478080	chr7:69465392-69465393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565348361	chr7:69465398-69465399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532522700	chr7:69465412-69465413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547991732	chr7:69465423-69465424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566313747	chr7:69465459-69465460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572368386	chr7:69465513-69465514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530408373	chr7:69465517-69465518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548946030	chr7:69465536-69465537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117242871	chr7:69465546-69465547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537809010	chr7:69465605-69465606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192735496	chr7:69465606-69465607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571291396	chr7:69465616-69465617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374231168	chr7:69465670-69465671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538373899	chr7:69465708-69465709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553534187	chr7:69465722-69465723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374550324	chr7:69465821-69465822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140148025	chr7:69465829-69465830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184168021	chr7:69465840-69465841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146194842	chr7:69465852-69465853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368846595	chr7:69465859-69465860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189930690	chr7:69465874-69465875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192759457	chr7:69465898-69465899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368308268	chr7:69465920-69465921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372075336	chr7:69465959-69465960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150299694	chr7:69465992-69465993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576264954	chr7:69466023-69466024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368172950	chr7:69466031-69466032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565165434	chr7:69466076-69466077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573175505	chr7:69466107-69466108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs137950116	chr7:69466108-69466109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541581720	chr7:69466120-69466121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183916372	chr7:69466269-69466270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570471003	chr7:69466274-69466275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542959112	chr7:69466281-69466282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143415925	chr7:69466296-69466297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146912501	chr7:69466311-69466312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12698833	chr7:69466314-69466315	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs139334887	chr7:69466337-69466338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189089734	chr7:69466350-69466351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571188713	chr7:69466393-69466394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553731905	chr7:69466419-69466420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149408920	chr7:69466431-69466432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78996854	chr7:69466432-69466433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Lung adenocarcinoma	17982442	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Autism	19246517	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:1875 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69455800-69470400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:69460200-69470200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:69460200-69471600	Weak transcription	Fetal Intestine Small	intestine
4	chr7:69461400-69465800	Weak transcription	Brain Hippocampus Middle	brain
5	chr7:69461400-69466200	Weak transcription	Brain Substantia Nigra	brain
6	chr7:69461400-69471000	Weak transcription	Right Atrium	heart
7	chr7:69461400-69471400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr7:69461400-69471600	Weak transcription	Right Ventricle	heart
9	chr7:69461600-69465800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:69461600-69465800	Weak transcription	Left Ventricle	heart
11	chr7:69461600-69466000	Weak transcription	Brain Germinal Matrix	brain
12	chr7:69461600-69474000	Weak transcription	Psoas Muscle	Psoas
13	chr7:69462200-69470200	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:69463200-69470000	Weak transcription	Fetal Stomach	stomach
15	chr7:69463400-69466000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr7:69464800-69466400	Enhancers	Fetal Thymus	thymus
17	chr7:69465000-69466400	Enhancers	Fetal Brain Male	brain
18	chr7:69465200-69465400	Enhancers	Fetal Brain Female	brain
19	chr7:69465200-69466600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:69465200-69470200	Weak transcription	Fetal Heart	heart
21	chr7:69465400-69465800	Weak transcription	Fetal Brain Female	brain
22	chr7:69465800-69466400	Enhancers	Primary B cells from peripheral blood	blood
23	chr7:69465800-69466400	Enhancers	Primary hematopoietic stem cells	blood
24	chr7:69465800-69466400	Enhancers	Brain Hippocampus Middle	brain
25	chr7:69465800-69466400	Enhancers	Left Ventricle	heart
26	chr7:69465800-69466600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr7:69465800-69466600	Enhancers	Fetal Brain Female	brain
28	chr7:69465800-69466600	Enhancers	Thymus	Thymus
29	chr7:69465800-69466600	Enhancers	GM12878-XiMat	blood
30	chr7:69466000-69466200	Enhancers	Brain Germinal Matrix	brain
31	chr7:69466000-69466400	Enhancers	Stomach Smooth Muscle	stomach
32	chr7:69466200-69466600	Enhancers	Brain Substantia Nigra	brain
33	chr7:69466400-69469400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr7:69466400-69469600	Weak transcription	Fetal Thymus	thymus
35	chr7:69466400-69470000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr7:69466400-69470200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr7:69466400-69471400	Weak transcription	Brain Hippocampus Middle	brain
38	chr7:69466400-69475200	Weak transcription	Left Ventricle	heart
39	chr7:69466600-69469400	Weak transcription	Thymus	Thymus
40	chr7:69466600-69470000	Weak transcription	GM12878-XiMat	blood
41	chr7:69466600-69470400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr7:69467600-69467800	Enhancers	Rectal Smooth Muscle	rectum
43	chr7:69469400-69469600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr7:69469400-69470000	Enhancers	Dnd41	blood
45	chr7:69469400-69470800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:69469400-69471000	Enhancers	Thymus	Thymus
47	chr7:69469400-69472000	Enhancers	Primary B cells from peripheral blood	blood
48	chr7:69469600-69470400	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr7:69469600-69472200	Enhancers	Fetal Thymus	thymus
50	chr7:69469800-69471000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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