Variant report

Variant	nsv470033
Chromosome Location	chr7:10925630-10954219
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:348)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:348 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:10929010-10929223	HepG2	liver:	n/a	n/a
2	ATF2	chr7:10948088-10948631	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr7:10928900-10929340	GM12878	blood:	n/a	n/a
4	ATF2	chr7:10948090-10948701	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr7:10948157-10948481	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr7:10929005-10929271	GM12878	blood:	n/a	n/a
7	CBX3	chr7:10951230-10951678	K562	blood:	n/a	n/a
8	CEBPB	chr7:10950556-10950747	HepG2	liver:	n/a	n/a
9	CEBPB	chr7:10945928-10946066	K562	blood:	n/a	n/a
10	CEBPB	chr7:10945946-10946181	HepG2	liver:	n/a	n/a
11	CEBPB	chr7:10943996-10944124	K562	blood:	n/a	n/a
12	CHD2	chr7:10948133-10948567	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr7:10928909-10929278	MCF-7	breast:	n/a	n/a
14	CTCF	chr7:10929040-10929190	SAEC	small airway:	n/a	n/a
15	CTCF	chr7:10928904-10929360	HCT-116	colon:	n/a	n/a
16	CTCF	chr7:10928937-10929224	K562	blood:	n/a	n/a
17	CTCF	chr7:10929020-10929170	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr7:10929040-10929190	WERI-Rb-1	eye:	n/a	n/a
19	CTCF	chr7:10929100-10929250	BJ	skin:	n/a	n/a
20	CTCF	chr7:10929040-10929190	Caco-2	colon:	n/a	n/a
21	CTCF	chr7:10938446-10938473	Lung_OC	lung:	n/a	n/a
22	CTCF	chr7:10929000-10929150	NB4	blood:	n/a	n/a
23	CTCF	chr7:10929040-10929190	GM12878	blood:	n/a	n/a
24	CTCF	chr7:10929060-10929210	AG04450	lung:	n/a	n/a
25	CTCF	chr7:10929080-10929230	HAc	cerebellar:	n/a	n/a
26	CTCF	chr7:10929060-10929210	AG10803	skin:	n/a	n/a
27	CTCF	chr7:10929060-10929210	HMF	breast:	n/a	n/a
28	CTCF	chr7:10929020-10929170	BE2_C	brain:	n/a	n/a
29	CTCF	chr7:10929080-10929230	HL-60	blood:	n/a	n/a
30	CTCF	chr7:10929060-10929210	NHEK	skin:	n/a	n/a
31	CTCF	chr7:10928881-10929334	T-47D	breast:	n/a	n/a
32	CTCF	chr7:10929001-10929234	GM20000	blood:	n/a	n/a
33	CTCF	chr7:10929020-10929170	MCF-7	breast:	n/a	n/a
34	CTCF	chr7:10928969-10929271	Medullo	brain:	n/a	n/a
35	CTCF	chr7:10929040-10929190	GM12875	blood:	n/a	n/a
36	CTCF	chr7:10929020-10929170	HBMEC	blood vessel:	n/a	n/a
37	CTCF	chr7:10928961-10929193	HepG2	liver:	n/a	n/a
38	CTCF	chr7:10929060-10929210	HPF	lung:	n/a	n/a
39	CTCF	chr7:10929040-10929190	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr7:10928960-10929319	HepG2	liver:	n/a	n/a
41	CTCF	chr7:10928833-10929388	MCF-7	breast:	n/a	n/a
42	CTCF	chr7:10928961-10929251	Gliobla	brain:	n/a	n/a
43	CTCF	chr7:10929013-10929229	GM13976	blood:	n/a	n/a
44	CTCF	chr7:10929000-10929150	HFF-Myc	foreskin:	n/a	n/a
45	CTCF	chr7:10928983-10929211	GM19240	blood:	n/a	n/a
46	CTCF	chr7:10929040-10929190	GM12869	blood:	n/a	n/a
47	CTCF	chr7:10929000-10929150	GM12873	blood:	n/a	n/a
48	CTCF	chr7:10929040-10929190	BJ	skin:	n/a	n/a
49	CTCF	chr7:10929013-10929191	A549	lung:	n/a	n/a
50	CTCF	chr7:10929040-10929190	BE2_C	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:10676395..10677225-chr7:10928650..10929592,2	K562	blood:
2	chr7:10929007..10929956-chr7:11380303..11381142,3	MCF-7	breast:
3	chr7:10932953..10935447-chr7:10974620..10977431,2	K562	blood:
4	chr7:10952784..10957510-chr7:10959357..10962973,4	MCF-7	breast:
5	chr7:10747761..10748702-chr7:10928662..10929453,2	MCF-7	breast:
6	chr7:10950431..10952397-chr7:10957935..10960206,2	K562	blood:
7	chr7:10947517..10950005-chr7:10956259..10958787,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000201774	TF binding region

Extended variants
information (count: 728 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:728 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12532091	chr7:10927810-10927811	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572382637	chr7:10927822-10927823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547560488	chr7:10927843-10927844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370073324	chr7:10927850-10927851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116397730	chr7:10927871-10927872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564639408	chr7:10927886-10927887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556897757	chr7:10927889-10927890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576768089	chr7:10927890-10927891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538070756	chr7:10927917-10927918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536143690	chr7:10927963-10927964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555970696	chr7:10927972-10927973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376226257	chr7:10927973-10927974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572525731	chr7:10928007-10928008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79176751	chr7:10928023-10928024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559956345	chr7:10928080-10928081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576451323	chr7:10928119-10928120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7357330	chr7:10928142-10928143	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs141090569	chr7:10928161-10928162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531546717	chr7:10928192-10928193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535995777	chr7:10928231-10928232	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs7357204	chr7:10928266-10928267	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs181569399	chr7:10928272-10928273	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs184571671	chr7:10928281-10928282	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs527463465	chr7:10928299-10928300	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs576163210	chr7:10928307-10928308	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs79978142	chr7:10928310-10928311	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs189943590	chr7:10928324-10928325	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs114228742	chr7:10928418-10928419	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs150249886	chr7:10928467-10928468	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs561894106	chr7:10928513-10928514	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs536180755	chr7:10928622-10928623	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs527577711	chr7:10928686-10928687	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs111767185	chr7:10928698-10928699	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs374180500	chr7:10928756-10928757	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs570677302	chr7:10928793-10928794	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs566279180	chr7:10928797-10928798	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs534876920	chr7:10928819-10928820	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs553833575	chr7:10928850-10928851	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs74679009	chr7:10928855-10928856	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs545492478	chr7:10928910-10928911	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs114744431	chr7:10928924-10928925	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs368396264	chr7:10929011-10929012	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs115302881	chr7:10929072-10929073	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs180744352	chr7:10929075-10929076	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs539774018	chr7:10929145-10929146	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs372080618	chr7:10929148-10929149	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs142047179	chr7:10929198-10929199	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs541005901	chr7:10929223-10929224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373931615	chr7:10929260-10929261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527486750	chr7:10929304-10929305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:10927800-10929200	Enhancers	Primary T cells from cord blood	blood
2	chr7:10928000-10929000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr7:10928000-10929200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:10928000-10929200	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr7:10928200-10928400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:10928200-10928400	Active TSS	Monocytes-CD14+_RO01746	blood
7	chr7:10928200-10928600	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr7:10928200-10928800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr7:10928200-10929000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr7:10928200-10929200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr7:10928200-10929200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:10928200-10929400	Enhancers	Primary B cells from peripheral blood	blood
13	chr7:10928200-10929400	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr7:10928200-10929400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:10928400-10928600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr7:10928400-10928800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr7:10928400-10928800	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr7:10928400-10928800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr7:10928400-10928800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:10928400-10928800	Enhancers	Fetal Thymus	thymus
21	chr7:10928400-10929000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr7:10928400-10929000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:10928400-10929000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:10928400-10929200	Enhancers	Primary T cells fromperipheralblood	blood
25	chr7:10928600-10929000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr7:10928600-10929000	Enhancers	Primary hematopoietic stem cells	blood
27	chr7:10928600-10929000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr7:10928600-10929000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr7:10928600-10929000	Enhancers	Liver	Liver
30	chr7:10928600-10929000	Enhancers	Brain Hippocampus Middle	brain
31	chr7:10928600-10929000	Enhancers	Dnd41	blood
32	chr7:10928600-10929000	Enhancers	GM12878-XiMat	blood
33	chr7:10928600-10929000	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr7:10928600-10929200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr7:10928600-10929200	Enhancers	Spleen	Spleen
36	chr7:10928800-10929000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr7:10928800-10929000	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr7:10928800-10929200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr7:10928800-10929200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:10928800-10929200	Enhancers	Brain Angular Gyrus	brain
41	chr7:10928800-10929200	Enhancers	Brain Anterior Caudate	brain
42	chr7:10928800-10929200	Enhancers	Brain Substantia Nigra	brain
43	chr7:10929000-10929200	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr7:10929000-10929200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:10929200-10933400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr7:10930400-10932000	Enhancers	H9 Cell Line	embryonic stem cell
47	chr7:10933400-10934400	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr7:10945400-10950400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr7:10946600-10947000	Enhancers	H9 Cell Line	embryonic stem cell
50	chr7:10946800-10947600	Enhancers	H1 Cell Line	embryonic stem cell

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