Variant report

Variant	nsv1034281
Chromosome Location	chr7:69403828-69548378
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:34)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17140568..17141073-chr7:69416276..69416797,2	HCT-116	colon:
2	chr7:69472277..69474938-chr7:69476537..69478191,2	K562	blood:
3	chr7:67257876..67258792-chr7:69506066..69506610,2	MCF-7	breast:
4	chr7:69499839..69501750-chr7:69505112..69507033,2	K562	blood:
5	chr7:69507240..69508178-chr7:69626181..69627189,3	MCF-7	breast:
6	chr7:69407235..69410156-chr7:69414397..69415945,2	K562	blood:
7	chr7:69448782..69451652-chr7:69453514..69455683,2	K562	blood:
8	chr7:69422896..69425409-chr7:69440425..69442318,2	K562	blood:
9	chr7:69499839..69501750-chr7:69505112..69507033,2	K562	blood:
10	chr7:69453365..69456606-chr7:69459884..69464599,5	K562	blood:
11	chr7:69492662..69494533-chr7:69494789..69496993,2	MCF-7	breast:
12	chr7:69507259..69508393-chr7:70162935..70163782,5	MCF-7	breast:
13	chr7:69499053..69501725-chr7:69503584..69505273,2	MCF-7	breast:
14	chr7:69407235..69410156-chr7:69414397..69415945,2	K562	blood:
15	chr7:69521541..69523316-chr7:69526522..69528955,2	K562	blood:
16	chr7:69423156..69425237-chr7:69469774..69471942,2	MCF-7	breast:
17	chr7:69396739..69397519-chr7:69507195..69508169,2	MCF-7	breast:
18	chr7:69422896..69425409-chr7:69440425..69442318,2	K562	blood:
19	chr7:69459148..69462116-chr7:69464154..69466270,2	K562	blood:
20	chr7:69423156..69425237-chr7:69469774..69471942,2	MCF-7	breast:
21	chr7:69507502..69508119-chr7:69626360..69626921,2	MCF-7	breast:
22	chr7:69499053..69501725-chr7:69503584..69505273,2	MCF-7	breast:
23	chr7:69472277..69474938-chr7:69476537..69478191,2	K562	blood:
24	chr7:69497223..69498827-chr7:75682807..75685073,2	MCF-7	breast:
25	chr7:69521541..69523316-chr7:69526522..69528955,2	K562	blood:
26	chr7:69399373..69401359-chr7:69403771..69405958,2	K562	blood:
27	chr7:69507131..69507765-chr7:69626314..69626849,2	MCF-7	breast:
28	chr7:69418634..69420209-chr7:69430250..69432320,2	MCF-7	breast:
29	chr7:69418634..69420209-chr7:69430250..69432320,2	MCF-7	breast:
30	chr7:69459148..69462116-chr7:69464154..69466270,2	K562	blood:
31	chr7:69492662..69494533-chr7:69494789..69496993,2	MCF-7	breast:
32	chr7:69448782..69451652-chr7:69453514..69455683,2	K562	blood:
33	chr7:66842895..66843844-chr7:69506111..69506611,2	K562	blood:
34	chr7:69453365..69456606-chr7:69459884..69464599,5	K562	blood:

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

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

No data

Variant related genes	Relation type
ENSG00000146701	chromatin interactions

Extended variants
information (count: 4628 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:4628 , 50 per page) page: 1 2 3 4 5 6 7 ... 93

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574290908	chr7:69403865-69403866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs17141032	chr7:69403890-69403891	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs531146415	chr7:69403949-69403950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368774887	chr7:69403979-69403980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142548114	chr7:69403997-69403998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190341155	chr7:69404006-69404007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563837963	chr7:69404047-69404048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112364793	chr7:69404123-69404124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528215039	chr7:69404266-69404267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35603196	chr7:69404280-69404281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546300096	chr7:69404287-69404288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567868097	chr7:69404323-69404324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192892290	chr7:69404388-69404389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs80030766	chr7:69404390-69404391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185070914	chr7:69404395-69404396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189301585	chr7:69404399-69404400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113097377	chr7:69404456-69404457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183682099	chr7:69404518-69404519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138573433	chr7:69404531-69404532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570954353	chr7:69404588-69404589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188741468	chr7:69404611-69404612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574254831	chr7:69404643-69404644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544827440	chr7:69404670-69404671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556559626	chr7:69404688-69404689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371873508	chr7:69404699-69404700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181534136	chr7:69404706-69404707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545475904	chr7:69404729-69404730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563699203	chr7:69404798-69404799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528079646	chr7:69404815-69404816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186272226	chr7:69404821-69404822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190281458	chr7:69404841-69404842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529061325	chr7:69404921-69404922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550778416	chr7:69404989-69404990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547013599	chr7:69405014-69405015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73429456	chr7:69405033-69405034	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs141566960	chr7:69405039-69405040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551707324	chr7:69405040-69405041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192079448	chr7:69405041-69405042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534205246	chr7:69405046-69405047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549462136	chr7:69405049-69405050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376687514	chr7:69405125-69405126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538054366	chr7:69405134-69405135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556760283	chr7:69405153-69405154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs578119068	chr7:69405155-69405156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539274447	chr7:69405192-69405193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554065717	chr7:69405236-69405237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572472667	chr7:69405264-69405265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565634947	chr7:69405354-69405355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539878434	chr7:69405365-69405366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561422962	chr7:69405510-69405511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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

Chromatin state (count:1842 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69387600-69409400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr7:69391800-69417000	Weak transcription	Primary B cells from cord blood	blood
3	chr7:69400000-69405800	Weak transcription	Psoas Muscle	Psoas
4	chr7:69400200-69406000	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:69400400-69406000	Weak transcription	Fetal Brain Male	brain
6	chr7:69401000-69406000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr7:69401000-69406000	Weak transcription	Brain Anterior Caudate	brain
8	chr7:69401400-69406000	Weak transcription	GM12878-XiMat	blood
9	chr7:69402000-69404000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:69402000-69404000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:69402000-69406800	Enhancers	Fetal Thymus	thymus
12	chr7:69402200-69404000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:69402200-69404000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr7:69402600-69405000	Enhancers	Thymus	Thymus
15	chr7:69403000-69404400	Weak transcription	Fetal Muscle Leg	muscle
16	chr7:69403200-69406000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:69403800-69404200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:69403800-69409000	Weak transcription	Fetal Heart	heart
19	chr7:69404000-69404400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:69404000-69405600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr7:69404200-69404800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:69404400-69404600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:69404400-69404600	Enhancers	Fetal Muscle Leg	muscle
24	chr7:69404400-69407200	Enhancers	Primary T cells from cord blood	blood
25	chr7:69404600-69427800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:69404800-69406000	Weak transcription	Fetal Brain Female	brain
27	chr7:69404800-69409600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:69405000-69406000	Weak transcription	Thymus	Thymus
29	chr7:69405600-69405800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr7:69405800-69406400	Enhancers	Brain Hippocampus Middle	brain
31	chr7:69406000-69406200	Enhancers	Psoas Muscle	Psoas
32	chr7:69406000-69406400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr7:69406000-69406400	Enhancers	Adipose Nuclei	Adipose
34	chr7:69406000-69406400	Enhancers	Brain Anterior Caudate	brain
35	chr7:69406000-69406400	Enhancers	Colon Smooth Muscle	Colon
36	chr7:69406000-69406600	Enhancers	GM12878-XiMat	blood
37	chr7:69406000-69406800	Enhancers	Primary B cells from peripheral blood	blood
38	chr7:69406000-69406800	Enhancers	Thymus	Thymus
39	chr7:69406000-69408800	Enhancers	Fetal Brain Male	brain
40	chr7:69406000-69409000	Enhancers	Fetal Brain Female	brain
41	chr7:69406200-69406400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:69406200-69406400	Enhancers	Brain Germinal Matrix	brain
43	chr7:69406200-69406800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:69406200-69407400	Weak transcription	Right Atrium	heart
45	chr7:69406400-69407200	Weak transcription	Brain Germinal Matrix	brain
46	chr7:69406600-69415600	Weak transcription	GM12878-XiMat	blood
47	chr7:69406800-69417200	Weak transcription	Thymus	Thymus
48	chr7:69407400-69407600	Enhancers	Brain Germinal Matrix	brain
49	chr7:69408800-69410800	Weak transcription	Fetal Brain Male	brain
50	chr7:69409000-69409400	Enhancers	Fetal Heart	heart

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