Variant report

Variant	nsv492242
Chromosome Location	chr7:69330737-69520566
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:55)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:69396739..69397519-chr7:69507195..69508169,2	MCF-7	breast:
2	chr7:69459148..69462116-chr7:69464154..69466270,2	K562	blood:
3	chr7:69418634..69420209-chr7:69430250..69432320,2	MCF-7	breast:
4	chr7:69423156..69425237-chr7:69469774..69471942,2	MCF-7	breast:
5	chr7:69334524..69336993-chr7:69356452..69358911,2	MCF-7	breast:
6	chr7:69507259..69508393-chr7:70162935..70163782,5	MCF-7	breast:
7	chr7:69362288..69364845-chr7:69376146..69378504,2	MCF-7	breast:
8	chr7:69407235..69410156-chr7:69414397..69415945,2	K562	blood:
9	chr17:17140568..17141073-chr7:69416276..69416797,2	HCT-116	colon:
10	chr7:69499839..69501750-chr7:69505112..69507033,2	K562	blood:
11	chr7:69382134..69383940-chr7:69390397..69392877,2	K562	blood:
12	chr7:69333993..69336965-chr7:69341808..69343706,2	MCF-7	breast:
13	chr7:69499839..69501750-chr7:69505112..69507033,2	K562	blood:
14	chr7:69472277..69474938-chr7:69476537..69478191,2	K562	blood:
15	chr7:69499053..69501725-chr7:69503584..69505273,2	MCF-7	breast:
16	chr7:69492662..69494533-chr7:69494789..69496993,2	MCF-7	breast:
17	chr7:69334524..69336993-chr7:69356452..69358911,2	MCF-7	breast:
18	chr7:69329979..69332138-chr7:69333837..69336630,2	K562	blood:
19	chr7:66836557..66837060-chr7:69396635..69397168,2	K562	blood:
20	chr7:69497223..69498827-chr7:75682807..75685073,2	MCF-7	breast:
21	chr7:69333993..69336965-chr7:69341808..69343706,2	MCF-7	breast:
22	chr7:69507131..69507765-chr7:69626314..69626849,2	MCF-7	breast:
23	chr7:69507502..69508119-chr7:69626360..69626921,2	MCF-7	breast:
24	chr7:68868267..68868830-chr7:69396795..69397420,2	MCF-7	breast:
25	chr7:69392216..69395197-chr8:71487916..71489899,2	MCF-7	breast:
26	chr7:69499053..69501725-chr7:69503584..69505273,2	MCF-7	breast:
27	chr7:69396739..69397519-chr7:69507195..69508169,2	MCF-7	breast:
28	chr7:69422896..69425409-chr7:69440425..69442318,2	K562	blood:
29	chr7:69459148..69462116-chr7:69464154..69466270,2	K562	blood:
30	chr7:69422896..69425409-chr7:69440425..69442318,2	K562	blood:
31	chr7:69382134..69383940-chr7:69390397..69392877,2	K562	blood:
32	chr7:69407235..69410156-chr7:69414397..69415945,2	K562	blood:
33	chr7:66842895..66843844-chr7:69506111..69506611,2	K562	blood:
34	chr7:69399373..69401359-chr7:69403771..69405958,2	K562	blood:
35	chr7:69453365..69456606-chr7:69459884..69464599,5	K562	blood:
36	chr7:69399373..69401359-chr7:69403771..69405958,2	K562	blood:
37	chr7:69448782..69451652-chr7:69453514..69455683,2	K562	blood:
38	chr7:69448782..69451652-chr7:69453514..69455683,2	K562	blood:
39	chr7:69423156..69425237-chr7:69469774..69471942,2	MCF-7	breast:
40	chr7:69330104..69332138-chr7:69335130..69336781,2	K562	blood:
41	chr7:69492662..69494533-chr7:69494789..69496993,2	MCF-7	breast:
42	chr7:66843281..66844030-chr7:69396720..69397270,2	MCF-7	breast:
43	chr7:67157459..67159524-chr7:69332481..69334089,2	MCF-7	breast:
44	chr7:69327310..69330427-chr7:69330830..69332820,3	K562	blood:
45	chr7:69472277..69474938-chr7:69476537..69478191,2	K562	blood:
46	chr7:69418634..69420209-chr7:69430250..69432320,2	MCF-7	breast:
47	chr7:69329979..69332138-chr7:69333837..69336630,2	K562	blood:
48	chr7:68868001..68868754-chr7:69358735..69359601,3	MCF-7	breast:
49	chr7:69507240..69508178-chr7:69626181..69627189,3	MCF-7	breast:
50	chr7:69362288..69364845-chr7:69376146..69378504,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CALN1-6	chr7:69440911-69441196	uc_218_-
2	lnc-WBSCR17-7	chr7:69440911-69441196	uc_218_+

No data

Variant related genes	Relation type
ENSG00000146701	chromatin interactions

Extended variants
information (count: 6175 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:6175 , 50 per page) page: 1 2 3 4 5 6 7 ... 124

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147605064	chr7:69330744-69330745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542644265	chr7:69330793-69330794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560801557	chr7:69330798-69330799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192340103	chr7:69330804-69330805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113414950	chr7:69330885-69330886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564688883	chr7:69330913-69330914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35393973	chr7:69330923-69330924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558834815	chr7:69330958-69330959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184503165	chr7:69330961-69330962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189474099	chr7:69331030-69331031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376140784	chr7:69331053-69331054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541251340	chr7:69331061-69331062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576808425	chr7:69331074-69331075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547363898	chr7:69331132-69331133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565998700	chr7:69331136-69331137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544170105	chr7:69331229-69331230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142071715	chr7:69331438-69331439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548534862	chr7:69331473-69331474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79175911	chr7:69331479-69331480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537503316	chr7:69331504-69331505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559097562	chr7:69331519-69331520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571055318	chr7:69331553-69331554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535263428	chr7:69331590-69331591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553377602	chr7:69331595-69331596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575107910	chr7:69331636-69331637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533559895	chr7:69331643-69331644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs193224708	chr7:69331686-69331687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554505672	chr7:69331721-69331722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368872438	chr7:69331758-69331759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574911711	chr7:69331780-69331781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377248194	chr7:69331788-69331789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35735458	chr7:69331789-69331790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145830016	chr7:69331815-69331816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543109419	chr7:69331845-69331846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144040234	chr7:69331885-69331886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553319148	chr7:69332003-69332004	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs532158479	chr7:69332008-69332009	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs541247299	chr7:69332049-69332050	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs147795889	chr7:69332061-69332062	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs184407999	chr7:69332070-69332071	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs148837071	chr7:69332135-69332136	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs74853752	chr7:69332141-69332142	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs200412465	chr7:69332180-69332181	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs397750674	chr7:69332183-69332184	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs563627916	chr7:69332189-69332190	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs530974869	chr7:69332239-69332240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189592450	chr7:69332240-69332241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143434807	chr7:69332267-69332268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534886615	chr7:69332286-69332287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547146127	chr7:69332295-69332296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Basal cell lymphoma	21115979	CNVD
Glioma	20126413	CNVD
Epilepsy	20502679	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Lung adenocarcinoma	17982442	CNVD

Chromatin state (count:2454 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69311400-69371600	Weak transcription	Primary B cells from cord blood	blood
2	chr7:69323600-69331800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:69326000-69335800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:69326600-69336200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:69327400-69331400	Enhancers	Brain Germinal Matrix	brain
6	chr7:69327400-69331800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:69327800-69332600	Enhancers	Fetal Brain Female	brain
8	chr7:69328000-69337600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr7:69328600-69331000	Enhancers	Fetal Lung	lung
10	chr7:69328800-69333000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr7:69330000-69332800	Enhancers	Ovary	ovary
12	chr7:69330000-69337400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:69330400-69331400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr7:69330400-69331800	Weak transcription	Brain Hippocampus Middle	brain
15	chr7:69330400-69336200	Weak transcription	Fetal Brain Male	brain
16	chr7:69330400-69337000	Weak transcription	Brain Anterior Caudate	brain
17	chr7:69330400-69338000	Weak transcription	Thymus	Thymus
18	chr7:69330600-69335600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:69330600-69337000	Weak transcription	GM12878-XiMat	blood
20	chr7:69331000-69336000	Weak transcription	Fetal Lung	lung
21	chr7:69331400-69332400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr7:69331800-69332200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:69331800-69333600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:69332000-69332200	Bivalent Enhancer	NH-A	brain
25	chr7:69332200-69336800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:69332400-69336600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:69332600-69336600	Weak transcription	Fetal Brain Female	brain
28	chr7:69332800-69336600	Weak transcription	Ovary	ovary
29	chr7:69333000-69335600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr7:69333600-69336000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:69334000-69334200	Enhancers	Dnd41	blood
32	chr7:69334200-69337200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr7:69334400-69336000	Weak transcription	Dnd41	blood
34	chr7:69335400-69336400	Weak transcription	Brain Hippocampus Middle	brain
35	chr7:69335600-69336400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:69335600-69337000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:69335600-69337400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:69335600-69337400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr7:69335600-69337800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:69335600-69338600	Enhancers	Fetal Intestine Small	intestine
41	chr7:69335600-69339400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr7:69335800-69336800	Enhancers	A549	lung
43	chr7:69335800-69337600	Enhancers	NH-A	brain
44	chr7:69335800-69339400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:69336000-69336200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:69336000-69337200	Enhancers	Osteobl	bone
47	chr7:69336000-69337400	Enhancers	Fetal Lung	lung
48	chr7:69336000-69337600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:69336000-69337600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:69336000-69337600	Enhancers	Fetal Heart	heart

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