Variant report

Variant	nsv967329
Chromosome Location	chr7:66349389-66353665
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr7:66351069-66351546	GM12878	blood:	n/a	n/a
2	ATF2	chr7:66351121-66351525	GM12878	blood:	n/a	n/a
3	BATF	chr7:66351904-66352578	GM12878	blood:	n/a	n/a
4	BATF	chr7:66351116-66351555	GM12878	blood:	n/a	chr7:66351324-66351335
5	BATF	chr7:66351077-66351504	GM12878	blood:	n/a	chr7:66351324-66351335
6	BATF	chr7:66352278-66352493	GM12878	blood:	n/a	n/a
7	BATF	chr7:66351992-66352227	GM12878	blood:	n/a	n/a
8	BCL11A	chr7:66351991-66352188	GM12878	blood:	n/a	n/a
9	BCL11A	chr7:66351218-66351454	GM12878	blood:	n/a	n/a
10	BCL11A	chr7:66351102-66351563	GM12878	blood:	n/a	n/a
11	BCL3	chr7:66351124-66351506	GM12878	blood:	n/a	n/a
12	BCLAF1	chr7:66351004-66351458	GM12878	blood:	n/a	n/a
13	BHLHE40	chr7:66351206-66351582	GM12878	blood:	n/a	n/a
14	BHLHE40	chr7:66351836-66352397	GM12878	blood:	n/a	n/a
15	CEBPB	chr7:66349600-66349892	IMR90	lung:	n/a	n/a
16	CEBPB	chr7:66351766-66352244	GM12878	blood:	n/a	n/a
17	CEBPB	chr7:66351098-66351689	GM12878	blood:	n/a	chr7:66351368-66351379
18	CEBPB	chr7:66351327-66351420	HepG2	liver:	n/a	chr7:66351368-66351379
19	CEBPB	chr7:66351320-66351497	IMR90	lung:	n/a	chr7:66351368-66351379
20	CHD2	chr7:66351180-66351467	GM12878	blood:	n/a	n/a
21	EBF1	chr7:66351804-66352205	GM12878	blood:	n/a	n/a
22	EBF1	chr7:66351149-66351617	GM12878	blood:	n/a	chr7:66351384-66351395
23	EBF1	chr7:66351055-66352559	GM12878	blood:	n/a	chr7:66351384-66351395
24	EBF1	chr7:66351932-66352284	GM12878	blood:	n/a	n/a
25	EBF1	chr7:66351071-66351693	GM12878	blood:	n/a	chr7:66351384-66351395
26	ELF1	chr7:66353182-66353617	MCF-7	breast:	n/a	n/a
27	EP300	chr7:66351270-66351512	GM12878	blood:	n/a	n/a
28	EP300	chr7:66351308-66351519	GM12878	blood:	n/a	n/a
29	EP300	chr7:66353173-66353539	T-47D	breast:	n/a	n/a
30	EP300	chr7:66352027-66352177	GM12878	blood:	n/a	n/a
31	EP300	chr7:66351184-66351513	GM12878	blood:	n/a	n/a
32	EP300	chr7:66352045-66352142	GM12878	blood:	n/a	n/a
33	EP300	chr7:66351112-66351386	GM12878	blood:	n/a	n/a
34	ESR1	chr7:66353232-66353539	T-47D	breast:	n/a	n/a
35	ESR1	chr7:66353121-66353575	T-47D	breast:	n/a	n/a
36	ESR1	chr7:66353210-66353559	T-47D	breast:	n/a	n/a
37	ESR1	chr7:66353161-66353558	T-47D	breast:	n/a	n/a
38	ESR1	chr7:66353140-66353630	T-47D	breast:	n/a	n/a
39	ESR1	chr7:66353147-66353589	T-47D	breast:	n/a	n/a
40	FOS	chr7:66349582-66349896	MCF10A-Er-Src	breast:	n/a	chr7:66349732-66349743 chr7:66349684-66349693 chr7:66349731-66349739 chr7:66349731-66349738
41	FOS	chr7:66349583-66349896	MCF10A-Er-Src	breast:	n/a	chr7:66349732-66349743 chr7:66349684-66349693 chr7:66349731-66349739 chr7:66349731-66349738
42	FOS	chr7:66349583-66349887	MCF10A-Er-Src	breast:	n/a	chr7:66349732-66349743 chr7:66349684-66349693 chr7:66349731-66349739 chr7:66349731-66349738
43	FOS	chr7:66349525-66349889	HUVEC	blood vessel:	n/a	chr7:66349732-66349743 chr7:66349684-66349693 chr7:66349731-66349739 chr7:66349731-66349738
44	FOS	chr7:66351324-66351485	MCF10A-Er-Src	breast:	n/a	n/a
45	FOXA1	chr7:66353246-66353570	T-47D	breast:	n/a	n/a
46	FOXM1	chr7:66351081-66351642	GM12878	blood:	n/a	n/a
47	GATA3	chr7:66353233-66353581	T-47D	breast:	n/a	n/a
48	GATA3	chr7:66353138-66353661	T-47D	breast:	n/a	n/a
49	IKZF1	chr7:66350961-66351625	GM12878	blood:	n/a	n/a
50	IRF4	chr7:66351849-66352201	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCTD7-2	chr7:66352258-66355627	NONHSAT121240
2	lnc-KCTD7-2	chr7:66351339-66351468	NONHSAT121239
3	lnc-KCTD7-2	chr7:66350046-66350233	NONHSAT121239

Variant related genes	Relation type
RNU6-1254P	TF binding region

Extended variants
information (count: 173 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141103625	chr7:66349396-66349397	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144839131	chr7:66349404-66349405	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138528153	chr7:66349406-66349407	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs56006261	chr7:66349429-66349430	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs564881815	chr7:66349445-66349446	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530752853	chr7:66349512-66349513	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs28422168	chr7:66349523-66349524	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs28433595	chr7:66349526-66349527	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs80256833	chr7:66349586-66349587	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560882167	chr7:66349612-66349613	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529227753	chr7:66349622-66349623	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549011960	chr7:66349624-66349625	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534206694	chr7:66349663-66349664	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566156170	chr7:66349670-66349671	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1830070	chr7:66349671-66349672	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs551856955	chr7:66349673-66349674	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571722466	chr7:66349676-66349677	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537659644	chr7:66349706-66349707	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557673326	chr7:66349749-66349750	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567989904	chr7:66349865-66349866	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143504729	chr7:66349873-66349874	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572707609	chr7:66349882-66349883	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188831333	chr7:66349934-66349935	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572798127	chr7:66349982-66349983	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544747543	chr7:66349984-66349985	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs117309633	chr7:66350017-66350018	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575079327	chr7:66350068-66350069	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs374841316	chr7:66350069-66350070	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs368938661	chr7:66350072-66350073	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs113331682	chr7:66350076-66350077	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs529977525	chr7:66350078-66350079	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs575361548	chr7:66350083-66350084	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs67408913	chr7:66350117-66350118	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs148002572	chr7:66350170-66350171	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs528509929	chr7:66350198-66350199	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs551551576	chr7:66350203-66350204	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs375186113	chr7:66350234-66350235	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540509079	chr7:66350250-66350251	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573902438	chr7:66350267-66350268	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571750019	chr7:66350277-66350278	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141972348	chr7:66350288-66350289	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4718421	chr7:66350300-66350301	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs532481040	chr7:66350311-66350312	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs150665124	chr7:66350338-66350339	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536897772	chr7:66350339-66350340	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565856627	chr7:66350342-66350343	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140879963	chr7:66350357-66350358	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553649327	chr7:66350358-66350359	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185807311	chr7:66350369-66350370	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143320996	chr7:66350377-66350378	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
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
Hodgkin''s lymphoma	18641027	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
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	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
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66311000-66349400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:66311000-66358400	Weak transcription	Brain Anterior Caudate	brain
3	chr7:66311000-66368000	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:66311000-66385200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:66311200-66385200	Weak transcription	Brain Angular Gyrus	brain
6	chr7:66317200-66364400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:66319400-66364800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr7:66321200-66367800	Weak transcription	Aorta	Aorta
9	chr7:66322400-66364200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:66324400-66363800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:66325200-66360200	Weak transcription	Psoas Muscle	Psoas
12	chr7:66325200-66366400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:66325400-66351200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:66325400-66366400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:66325400-66369400	Weak transcription	Fetal Brain Female	brain
16	chr7:66325600-66359000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:66325600-66363600	Weak transcription	Primary B cells from cord blood	blood
18	chr7:66325600-66363600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr7:66325600-66373000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr7:66325800-66350000	Weak transcription	Dnd41	blood
21	chr7:66325800-66352800	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr7:66325800-66359600	Weak transcription	Spleen	Spleen
23	chr7:66325800-66363400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr7:66325800-66363400	Weak transcription	Brain Substantia Nigra	brain
25	chr7:66325800-66365800	Weak transcription	Esophagus	oesophagus
26	chr7:66325800-66366400	Weak transcription	Right Ventricle	heart
27	chr7:66325800-66367000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:66325800-66367600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr7:66326000-66349600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr7:66326000-66362000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:66326000-66363600	Weak transcription	Gastric	stomach
32	chr7:66326400-66358200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr7:66326400-66362600	Weak transcription	Brain Hippocampus Middle	brain
34	chr7:66326400-66363000	Weak transcription	Lung	lung
35	chr7:66326400-66368200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr7:66326400-66371800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr7:66326600-66363000	Weak transcription	Fetal Stomach	stomach
38	chr7:66328200-66367000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:66329600-66362000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:66329800-66372000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr7:66330400-66366000	Weak transcription	Fetal Thymus	thymus
42	chr7:66331200-66353800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr7:66331800-66378400	Weak transcription	A549	lung
44	chr7:66333000-66371600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:66333200-66349800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:66333400-66353800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr7:66333800-66364000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr7:66333800-66371800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr7:66334200-66367600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:66335000-66361800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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