Variant report

Variant	nsv1027766
Chromosome Location	chr7:109632883-109668177
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:125)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:125 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr7:109643522-109643630	K562	blood:	n/a	n/a
2	ATF1	chr7:109645029-109645204	K562	blood:	n/a	n/a
3	BATF	chr7:109647396-109647762	GM12878	blood:	n/a	n/a
4	BCL3	chr7:109647406-109647703	GM12878	blood:	n/a	n/a
5	CTCF	chr7:109643980-109644130	NHEK	skin:	n/a	n/a
6	CTCF	chr7:109644013-109644117	Medullo	brain:	n/a	n/a
7	CTCF	chr7:109643982-109644132	LNCaP	prostate:	n/a	n/a
8	CTCF	chr7:109644032-109644133	MCF-7	breast:	n/a	n/a
9	CTCF	chr7:109643940-109644090	Caco-2	colon:	n/a	n/a
10	CTCF	chr7:109643980-109644130	HEEpiC	esophagus:	n/a	n/a
11	CTCF	chr7:109644001-109644116	HUVEC	blood vessel:	n/a	n/a
12	CTCF	chr7:109644200-109644350	NHEK	skin:	n/a	n/a
13	CTCF	chr7:109644020-109644090	GM13977	blood:	n/a	n/a
14	CTCF	chr7:109644000-109644150	NHEK	skin:	n/a	n/a
15	CTCF	chr7:109643881-109644247	GM12878	blood:	n/a	n/a
16	CTCF	chr7:109643978-109644161	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr7:109644000-109644150	MCF-7	breast:	n/a	n/a
18	CTCF	chr7:109661620-109661770	HRE	kidney:	n/a	n/a
19	CTCF	chr7:109643980-109644130	SAEC	small airway:	n/a	n/a
20	CTCF	chr7:109644000-109644150	BE2_C	brain:	n/a	n/a
21	CTCF	chr7:109644000-109644150	HMEC	breast:	n/a	n/a
22	CTCF	chr7:109644013-109644133	HepG2	liver:	n/a	n/a
23	CTCF	chr7:109644060-109644210	Caco-2	colon:	n/a	n/a
24	CTCF	chr7:109644020-109644170	MCF-7	breast:	n/a	n/a
25	CTCF	chr7:109643824-109644298	MCF-7	breast:	n/a	n/a
26	CTCF	chr7:109643980-109644130	HPF	lung:	n/a	n/a
27	CTCF	chr7:109643940-109644090	HCPEpiC	choroid plexus:	n/a	n/a
28	CTCF	chr7:109643960-109644110	BE2_C	brain:	n/a	n/a
29	CTCF	chr7:109643920-109644070	HRE	kidney:	n/a	n/a
30	CTCF	chr7:109644011-109644161	LNCaP	prostate:	n/a	n/a
31	CTCF	chr7:109644060-109644210	HMEC	breast:	n/a	n/a
32	CTCF	chr7:109641840-109641990	BE2_C	brain:	n/a	n/a
33	CTCF	chr7:109643980-109644130	GM06990	blood:	n/a	n/a
34	CTCF	chr7:109643841-109644251	MCF-7	breast:	n/a	n/a
35	CTCF	chr7:109644000-109644167	MCF-7	breast:	n/a	n/a
36	CTCF	chr7:109644022-109644114	GM12878	blood:	n/a	n/a
37	CUX1	chr7:109650362-109650379	GM12878	blood:	n/a	n/a
38	E2F4	chr7:109650768-109651127	MCF10A-Er-Src	breast:	n/a	chr7:109651022-109651039 chr7:109651025-109651036 chr7:109651022-109651039
39	EP300	chr7:109647505-109647669	GM12878	blood:	n/a	n/a
40	EP300	chr7:109641487-109642042	SK-N-SH_RA	brain:	n/a	n/a
41	EP300	chr7:109640925-109642949	SK-N-SH	brain:	n/a	chr7:109642399-109642406
42	EP300	chr7:109641633-109642023	SK-N-SH_RA	brain:	n/a	n/a
43	FOS	chr7:109647569-109647623	MCF10A-Er-Src	breast:	n/a	chr7:109647605-109647617
44	FOS	chr7:109667992-109668143	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr7:109647519-109647520	MCF10A-Er-Src	breast:	n/a	n/a
46	FOXA2	chr7:109650390-109650655	HepG2	liver:	n/a	n/a
47	FOXM1	chr7:109647370-109647791	GM12878	blood:	n/a	n/a
48	FOXP2	chr7:109647751-109647976	SK-N-MC	brain:	n/a	n/a
49	FOXP2	chr7:109647492-109648045	SK-N-MC	brain:	n/a	n/a
50	FOXP2	chr7:109641700-109641956	SK-N-MC	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:109643549..109644198-chr7:110082097..110083094,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRN3-4	chr7:109650262-109650864	NONHSAT122758
2	lnc-LRRN3-4	chr7:109659312-109659557	NONHSAT122758
3	lnc-IMMP2L-7	chr7:109638491-109639681	NONHSAT122757

No data

Variant related genes	Relation type
RPL3P8	TF binding region

Extended variants
information (count: 860 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:860 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571160976	chr7:109635601-109635602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539443809	chr7:109635602-109635603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546924360	chr7:109635696-109635697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76199500	chr7:109635743-109635744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183046559	chr7:109635758-109635759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113402851	chr7:109635776-109635777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188627302	chr7:109635790-109635791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538077541	chr7:109635817-109635818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567017563	chr7:109635927-109635928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191697309	chr7:109635961-109635962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534138888	chr7:109635963-109635964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577822312	chr7:109636052-109636053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376625553	chr7:109636058-109636059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139067797	chr7:109636099-109636100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558961922	chr7:109636143-109636144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573325589	chr7:109636153-109636154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542295713	chr7:109636159-109636160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2523235	chr7:109636179-109636180	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs143182618	chr7:109638495-109638496	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs561077642	chr7:109638534-109638535	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs2074461	chr7:109638559-109638560	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs183319232	chr7:109638562-109638563	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs144427348	chr7:109638563-109638564	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs373237464	chr7:109638584-109638585	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs148431802	chr7:109638641-109638642	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs142558303	chr7:109638642-109638643	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs151102615	chr7:109638647-109638648	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs570907723	chr7:109638653-109638654	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs186095485	chr7:109638659-109638660	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs142516828	chr7:109638676-109638677	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs568210437	chr7:109638680-109638681	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs537156411	chr7:109638710-109638711	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs548862266	chr7:109638724-109638725	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs570244299	chr7:109638755-109638756	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs538932938	chr7:109638757-109638758	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs537977682	chr7:109638783-109638784	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs559229512	chr7:109638808-109638809	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs2074462	chr7:109638839-109638840	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs541067008	chr7:109638862-109638863	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs554639869	chr7:109638865-109638866	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs573776626	chr7:109638916-109638917	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs190863509	chr7:109638920-109638921	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs563311879	chr7:109638937-109638938	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs532365459	chr7:109638971-109638972	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs545765632	chr7:109638978-109638979	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs559726523	chr7:109638984-109638985	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs528093183	chr7:109639046-109639047	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs548164779	chr7:109639047-109639048	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs7791237	chr7:109639064-109639065	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs372231783	chr7:109639065-109639066	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109635600-109636000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:109635600-109636200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:109639200-109639800	ZNF genes & repeats	Dnd41	blood
4	chr7:109639800-109641600	Weak transcription	Dnd41	blood
5	chr7:109641600-109643000	Enhancers	Dnd41	blood
6	chr7:109643000-109647200	Weak transcription	Dnd41	blood
7	chr7:109646800-109647600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:109647000-109647800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:109647000-109647800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:109647000-109647800	Enhancers	NHEK	skin
11	chr7:109647000-109648000	Enhancers	HMEC	breast
12	chr7:109647200-109648400	Enhancers	Dnd41	blood
13	chr7:109647600-109647800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:109647800-109650600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:109650200-109650400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:109650600-109650800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:109650600-109654800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:109653000-109653400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr7:109654800-109655400	Enhancers	Fetal Intestine Small	intestine
20	chr7:109654800-109655600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:109654800-109655600	Enhancers	HepG2	liver
22	chr7:109657800-109660000	Weak transcription	Dnd41	blood
23	chr7:109667200-109667800	Enhancers	Fetal Lung	lung

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