Variant report

Variant	nsv1018289
Chromosome Location	chr7:69383450-69650885
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:68)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:68 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:68868267..68868830-chr7:69396795..69397420,2	MCF-7	breast:
2	chr7:69423156..69425237-chr7:69469774..69471942,2	MCF-7	breast:
3	chr7:69499839..69501750-chr7:69505112..69507033,2	K562	blood:
4	chr7:67642131..67642666-chr7:69626249..69626967,2	K562	blood:
5	chr7:69407235..69410156-chr7:69414397..69415945,2	K562	blood:
6	chr7:69607304..69608995-chr7:69609014..69610911,2	K562	blood:
7	chr7:69608209..69611177-chr7:69636150..69638480,2	K562	blood:
8	chr7:69399373..69401359-chr7:69403771..69405958,2	K562	blood:
9	chr7:66842963..66843775-chr7:69626464..69627151,2	K562	blood:
10	chr7:69407235..69410156-chr7:69414397..69415945,2	K562	blood:
11	chr7:69521541..69523316-chr7:69526522..69528955,2	K562	blood:
12	chr7:69472277..69474938-chr7:69476537..69478191,2	K562	blood:
13	chr7:69590843..69592598-chr7:69593553..69595231,2	K562	blood:
14	chr7:67257876..67258792-chr7:69506066..69506610,2	MCF-7	breast:
15	chr7:69448782..69451652-chr7:69453514..69455683,2	K562	blood:
16	chr7:69621516..69623833-chr7:69634958..69637045,2	K562	blood:
17	chr7:69626862..69629623-chr7:69629707..69632566,2	K562	blood:
18	chr7:69626862..69629623-chr7:69629707..69632566,3	K562	blood:
19	chr7:69590843..69592598-chr7:69593553..69595231,2	K562	blood:
20	chr7:66843281..66844030-chr7:69396720..69397270,2	MCF-7	breast:
21	chr7:69453365..69456606-chr7:69459884..69464599,5	K562	blood:
22	chr7:69521541..69523316-chr7:69526522..69528955,2	K562	blood:
23	chr7:69492662..69494533-chr7:69494789..69496993,2	MCF-7	breast:
24	chr7:69453365..69456606-chr7:69459884..69464599,5	K562	blood:
25	chr7:69507240..69508178-chr7:69626181..69627189,3	MCF-7	breast:
26	chr7:69459148..69462116-chr7:69464154..69466270,2	K562	blood:
27	chr7:69626862..69629623-chr7:69629707..69632566,2	K562	blood:
28	chr7:69459148..69462116-chr7:69464154..69466270,2	K562	blood:
29	chr7:66842914..66843798-chr7:69396772..69397448,2	MCF-7	breast:
30	chr7:69418634..69420209-chr7:69430250..69432320,2	MCF-7	breast:
31	chr7:69396739..69397519-chr7:69507195..69508169,2	MCF-7	breast:
32	chr7:69602728..69605525-chr7:69605927..69608020,2	K562	blood:
33	chr7:69499839..69501750-chr7:69505112..69507033,2	K562	blood:
34	chr7:69507502..69508119-chr7:69626360..69626921,2	MCF-7	breast:
35	chr7:69507502..69508119-chr7:69626360..69626921,2	MCF-7	breast:
36	chr14:68919841..68921381-chr7:69620883..69622403,2	K562	blood:
37	chr7:69499053..69501725-chr7:69503584..69505273,2	MCF-7	breast:
38	chr7:69392216..69395197-chr8:71487916..71489899,2	MCF-7	breast:
39	chr7:69499053..69501725-chr7:69503584..69505273,2	MCF-7	breast:
40	chr7:69607304..69608995-chr7:69609014..69610911,2	K562	blood:
41	chr7:69382134..69383940-chr7:69390397..69392877,2	K562	blood:
42	chr7:69567637..69569210-chr7:69569359..69572320,2	K562	blood:
43	chr7:69448782..69451652-chr7:69453514..69455683,2	K562	blood:
44	chr7:69396739..69397519-chr7:69507195..69508169,2	MCF-7	breast:
45	chr7:69507131..69507765-chr7:69626314..69626849,2	MCF-7	breast:
46	chr7:69507240..69508178-chr7:69626181..69627189,3	MCF-7	breast:
47	chr7:69497223..69498827-chr7:75682807..75685073,2	MCF-7	breast:
48	chr7:69560759..69562378-chr7:69565105..69567328,2	MCF-7	breast:
49	chr7:69507131..69507765-chr7:69626314..69626849,2	MCF-7	breast:
50	chr7:69560759..69562378-chr7:69565105..69567328,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CALN1-5	chr7:69618716-69618925	uc_219_-
2	lnc-WBSCR17-7	chr7:69440911-69441196	uc_218_+
3	lnc-WBSCR17-6	chr7:69618716-69618925	uc_219_+
4	lnc-CALN1-6	chr7:69440911-69441196	uc_218_-

No data

Variant related genes	Relation type
ENSG00000146701	chromatin interactions

Extended variants
information (count: 8707 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:8707 , 50 per page) page: 1 2 3 4 5 6 7 ... 175

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12672288	chr7:69383531-69383532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565193184	chr7:69383550-69383551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74518011	chr7:69383578-69383579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573669118	chr7:69383620-69383621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79249508	chr7:69383646-69383647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542844089	chr7:69383661-69383662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527362616	chr7:69383698-69383699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569049522	chr7:69383764-69383765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs17459369	chr7:69383765-69383766	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs140768236	chr7:69383778-69383779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531357327	chr7:69383780-69383781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186590461	chr7:69383790-69383791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571557185	chr7:69383801-69383802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532496846	chr7:69383862-69383863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576174436	chr7:69383902-69383903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374837903	chr7:69383941-69383942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565974954	chr7:69383977-69383978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536667669	chr7:69383980-69383981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs28438014	chr7:69384205-69384206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554741020	chr7:69384211-69384212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191772663	chr7:69384288-69384289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554452999	chr7:69384298-69384299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183386155	chr7:69384309-69384310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs877687	chr7:69384347-69384348	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs539526114	chr7:69384394-69384395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111406636	chr7:69384406-69384407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577096826	chr7:69384412-69384413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541357377	chr7:69384423-69384424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553266368	chr7:69384501-69384502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571917885	chr7:69384555-69384556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6979355	chr7:69384562-69384563	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs560780069	chr7:69384677-69384678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546844686	chr7:69384743-69384744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6966036	chr7:69384757-69384758	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs529085143	chr7:69384768-69384769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187744666	chr7:69384823-69384824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145437711	chr7:69384923-69384924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191438316	chr7:69384931-69384932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547683011	chr7:69384985-69384986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565988918	chr7:69385043-69385044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529997572	chr7:69385044-69385045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182076002	chr7:69385072-69385073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548574545	chr7:69385077-69385078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570046634	chr7:69385124-69385125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558366849	chr7:69385269-69385270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549228037	chr7:69385299-69385300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568971500	chr7:69385318-69385319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10226933	chr7:69385338-69385339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558707590	chr7:69385371-69385372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570674627	chr7:69385375-69385376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Epilepsy	20502679	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:2889 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69377000-69391000	Weak transcription	Fetal Lung	lung
2	chr7:69377200-69392400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:69377800-69402000	Weak transcription	Ovary	ovary
4	chr7:69378000-69385600	Weak transcription	Fetal Kidney	kidney
5	chr7:69378000-69387200	Weak transcription	Fetal Brain Female	brain
6	chr7:69379800-69383800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:69379800-69392800	Weak transcription	Fetal Brain Male	brain
8	chr7:69380200-69396000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:69382000-69385400	Weak transcription	Dnd41	blood
10	chr7:69383200-69387800	Enhancers	Fetal Intestine Small	intestine
11	chr7:69383400-69384600	Enhancers	Brain Germinal Matrix	brain
12	chr7:69383400-69384800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:69383600-69387800	Enhancers	Fetal Intestine Large	intestine
14	chr7:69383800-69384600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:69384200-69384600	Enhancers	Duodenum Mucosa	Duodenum
16	chr7:69384400-69387200	Enhancers	GM12878-XiMat	blood
17	chr7:69384600-69387200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:69384600-69387600	Weak transcription	Brain Germinal Matrix	brain
19	chr7:69384800-69386000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:69385400-69386200	Enhancers	Dnd41	blood
21	chr7:69385600-69386000	Enhancers	Fetal Kidney	kidney
22	chr7:69386000-69386200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:69386000-69386200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr7:69386000-69399400	Weak transcription	Fetal Kidney	kidney
25	chr7:69386200-69392800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr7:69387000-69387200	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr7:69387200-69387600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr7:69387200-69387800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr7:69387200-69388200	Enhancers	Fetal Brain Female	brain
30	chr7:69387200-69388400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:69387200-69388400	Flanking Active TSS	GM12878-XiMat	blood
32	chr7:69387400-69387800	Enhancers	Fetal Heart	heart
33	chr7:69387400-69388000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr7:69387600-69409400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr7:69387800-69392400	Weak transcription	Fetal Intestine Small	intestine
36	chr7:69388400-69388600	Enhancers	GM12878-XiMat	blood
37	chr7:69388400-69392600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:69388600-69389200	ZNF genes & repeats	GM12878-XiMat	blood
39	chr7:69389800-69399600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr7:69390600-69392200	Weak transcription	Dnd41	blood
41	chr7:69391000-69391200	ZNF genes & repeats	Fetal Lung	lung
42	chr7:69391200-69391400	Enhancers	Colon Smooth Muscle	Colon
43	chr7:69391200-69393400	Weak transcription	Pancreas	Pancrea
44	chr7:69391200-69398600	Weak transcription	Brain Hippocampus Middle	brain
45	chr7:69391200-69399200	Weak transcription	Fetal Lung	lung
46	chr7:69391400-69396200	Weak transcription	Colon Smooth Muscle	Colon
47	chr7:69391600-69399200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr7:69391800-69392400	Weak transcription	Esophagus	oesophagus
49	chr7:69391800-69394000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr7:69391800-69399000	Weak transcription	Brain Angular Gyrus	brain

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