Variant report

Variant	nsv1023651
Chromosome Location	chr7:108303048-108385180
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	ATF1	chr7:108323575-108323591	K562	blood:	n/a	n/a
2	BACH1	chr7:108364448-108364695	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr7:108375886-108375898	K562	blood:	n/a	n/a
4	BATF	chr7:108363078-108363302	GM12878	blood:	n/a	chr7:108363228-108363238 chr7:108363227-108363238
5	CEBPB	chr7:108361225-108361239	A549	lung:	n/a	n/a
6	CEBPB	chr7:108361165-108361296	HepG2	liver:	n/a	chr7:108361210-108361221
7	CHD2	chr7:108321680-108321840	K562	blood:	n/a	n/a
8	CHD2	chr7:108358414-108358512	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr7:108322799-108322822	HepG2	liver:	n/a	n/a
10	CTCF	chr7:108329597-108329678	GM13976	blood:	n/a	n/a
11	CTCF	chr7:108364700-108364850	HA-sp	spinal cord:	n/a	n/a
12	CTCF	chr7:108355940-108356090	HVMF	connective:	n/a	n/a
13	CTCF	chr7:108366930-108366975	ProgFib	skin:	n/a	n/a
14	CTCF	chr7:108350072-108350122	Medullo	brain:	n/a	n/a
15	CTCF	chr7:108356095-108356163	K562	blood:	n/a	n/a
16	CTCF	chr7:108384440-108384590	WERI-Rb-1	eye:	n/a	n/a
17	CTCF	chr7:108356093-108356133	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr7:108317829-108317864	Kidney_OC	kidney:	n/a	n/a
19	CTCF	chr7:108334391-108334455	LNCaP	prostate:	n/a	n/a
20	CTCF	chr7:108356014-108356273	GM12878	blood:	n/a	n/a
21	CTCF	chr7:108331674-108331753	LNCaP	prostate:	n/a	n/a
22	CTCF	chr7:108343780-108343930	SK-N-SH_RA	brain:	n/a	n/a
23	CUX1	chr7:108376891-108376902	GM12878	blood:	n/a	n/a
24	E2F4	chr7:108347423-108347623	MCF10A-Er-Src	breast:	n/a	n/a
25	E2F4	chr7:108325103-108325363	MCF10A-Er-Src	breast:	n/a	n/a
26	EBF1	chr7:108354974-108355018	GM12878	blood:	n/a	n/a
27	EP300	chr7:108347181-108347188	GM12878	blood:	n/a	n/a
28	EP300	chr7:108325037-108325155	K562	blood:	n/a	n/a
29	EP300	chr7:108303061-108303636	T-47D	breast:	n/a	n/a
30	ESR1	chr7:108323181-108323538	T-47D	breast:	n/a	chr7:108323388-108323405
31	ESR1	chr7:108304005-108304264	ECC-1	luminal epithelium:	n/a	n/a
32	ESR1	chr7:108323220-108323594	T-47D	breast:	n/a	chr7:108323388-108323405
33	ESR1	chr7:108323166-108323557	T-47D	breast:	n/a	chr7:108323388-108323405
34	FOS	chr7:108325740-108326112	MCF10A-Er-Src	breast:	n/a	chr7:108325922-108325934 chr7:108325924-108325932
35	FOS	chr7:108323376-108323593	MCF10A-Er-Src	breast:	n/a	chr7:108323456-108323464 chr7:108323454-108323466
36	FOS	chr7:108323363-108323675	MCF10A-Er-Src	breast:	n/a	chr7:108323456-108323464 chr7:108323454-108323466
37	FOS	chr7:108323377-108323603	MCF10A-Er-Src	breast:	n/a	chr7:108323456-108323464 chr7:108323454-108323466
38	FOS	chr7:108325744-108326076	MCF10A-Er-Src	breast:	n/a	chr7:108325922-108325934 chr7:108325924-108325932
39	FOS	chr7:108324997-108325524	HUVEC	blood vessel:	n/a	chr7:108325268-108325275 chr7:108325266-108325275 chr7:108325091-108325103 chr7:108325265-108325276
40	FOS	chr7:108325038-108325446	MCF10A-Er-Src	breast:	n/a	chr7:108325268-108325275 chr7:108325266-108325275 chr7:108325091-108325103 chr7:108325265-108325276
41	FOS	chr7:108325756-108326221	MCF10A-Er-Src	breast:	n/a	chr7:108325922-108325934 chr7:108325924-108325932
42	FOS	chr7:108325082-108325440	MCF10A-Er-Src	breast:	n/a	chr7:108325268-108325275 chr7:108325266-108325275 chr7:108325091-108325103 chr7:108325265-108325276
43	FOS	chr7:108325794-108326078	MCF10A-Er-Src	breast:	n/a	chr7:108325922-108325934 chr7:108325924-108325932
44	FOS	chr7:108325083-108325440	MCF10A-Er-Src	breast:	n/a	chr7:108325268-108325275 chr7:108325266-108325275 chr7:108325091-108325103 chr7:108325265-108325276
45	FOS	chr7:108324181-108324381	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr7:108325078-108325441	MCF10A-Er-Src	breast:	n/a	chr7:108325268-108325275 chr7:108325266-108325275 chr7:108325091-108325103 chr7:108325265-108325276
47	FOSL1	chr7:108324917-108325596	HCT-116	colon:	n/a	chr7:108325268-108325275 chr7:108325266-108325275 chr7:108325091-108325103
48	FOSL1	chr7:108324869-108325645	HCT-116	colon:	n/a	chr7:108325268-108325275 chr7:108325266-108325275 chr7:108325091-108325103
49	FOSL2	chr7:108325031-108325535	MCF-7	breast:	n/a	chr7:108325268-108325275 chr7:108325266-108325275 chr7:108325091-108325103
50	FOSL2	chr7:108325099-108325384	A549	lung:	n/a	chr7:108325268-108325275 chr7:108325266-108325275

No.	Distal block	Cell Line	Cell type
1	chr7:108355031..108357363-chr7:108358909..108360419,2	K562	blood:
2	chr7:108313082..108314966-chr7:108318504..108320031,2	K562	blood:
3	chr7:108354711..108356531-chr7:108358919..108360858,2	K562	blood:
4	chr7:108304856..108306945-chr7:108308400..108310024,2	K562	blood:
5	chr7:108313082..108314966-chr7:108318504..108320031,2	K562	blood:
6	chr7:108304856..108306945-chr7:108308400..108310024,2	K562	blood:
7	chr7:108354711..108356531-chr7:108358919..108360858,2	K562	blood:
8	chr7:108355031..108357363-chr7:108358909..108360419,2	K562	blood:
9	chr7:108294916..108297288-chr7:108300295..108303097,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-THAP5-3	chr7:108361052-108362045	NONHSAT122746

Variant related genes	Relation type
ENSG00000270425	TF binding region

Extended variants
information (count: 926 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:926 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561041505	chr7:108303072-108303073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149989357	chr7:108303085-108303086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570867235	chr7:108303090-108303091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201297156	chr7:108303096-108303097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549819848	chr7:108303120-108303121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569888343	chr7:108303254-108303255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs40957	chr7:108303255-108303256	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs192345885	chr7:108303275-108303276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184686023	chr7:108303366-108303367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs60796314	chr7:108303543-108303544	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs73713195	chr7:108303598-108303599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73416424	chr7:108303599-108303600	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs40958	chr7:108303615-108303616	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs553219409	chr7:108303663-108303664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536821418	chr7:108303676-108303677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373991121	chr7:108303745-108303746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552650956	chr7:108303760-108303761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555256073	chr7:108303762-108303763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76728665	chr7:108303772-108303773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112111801	chr7:108303774-108303775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73713196	chr7:108303775-108303776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576631013	chr7:108303804-108303805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs117766643	chr7:108303822-108303823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370978876	chr7:108303855-108303856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558509309	chr7:108303887-108303888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572198233	chr7:108303953-108303954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541147631	chr7:108304024-108304025	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs560928363	chr7:108304084-108304085	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs374617162	chr7:108304104-108304105	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs529922664	chr7:108304107-108304108	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs188529249	chr7:108304124-108304125	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs543555071	chr7:108304215-108304216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs118017187	chr7:108304232-108304233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575641444	chr7:108304236-108304237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532429980	chr7:108304276-108304277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140082436	chr7:108304279-108304280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143740683	chr7:108304280-108304281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558604624	chr7:108304300-108304301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181321082	chr7:108304302-108304303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565686510	chr7:108304310-108304311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115991769	chr7:108304381-108304382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543102805	chr7:108304383-108304384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556707421	chr7:108304389-108304390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570288545	chr7:108304407-108304408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576892031	chr7:108304411-108304412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189045998	chr7:108304425-108304426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182276828	chr7:108304445-108304446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369888532	chr7:108304448-108304449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77030718	chr7:108304498-108304499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540985739	chr7:108304508-108304509	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Autism	20841430	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108303000-108304200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:108303400-108304000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:108303400-108304400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:108304000-108304200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:108304000-108304200	Enhancers	Fetal Lung	lung
6	chr7:108304000-108304800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:108307400-108308200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:108307800-108308400	Enhancers	Adipose Nuclei	Adipose
9	chr7:108308000-108308400	Enhancers	Fetal Lung	lung
10	chr7:108313000-108313800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:108314200-108314400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:108323200-108323800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:108323200-108323800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:108323200-108324000	Enhancers	Adipose Nuclei	Adipose
15	chr7:108323200-108324200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:108323800-108325200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:108323800-108326000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:108324200-108324600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:108324600-108324800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:108324600-108326200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:108324800-108325200	Enhancers	A549	lung
22	chr7:108324800-108325600	Enhancers	HUVEC	blood vessel
23	chr7:108324800-108326200	Enhancers	Hela-S3	cervix
24	chr7:108325200-108325600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:108325400-108325600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:108325400-108325600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:108326000-108326200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:108326800-108327600	Enhancers	Liver	Liver
29	chr7:108337400-108338400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr7:108337400-108338800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:108337400-108338800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:108337600-108338200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:108337600-108338400	Enhancers	Brain Germinal Matrix	brain
34	chr7:108346800-108347200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:108351800-108352200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr7:108351800-108352200	Enhancers	Fetal Stomach	stomach
37	chr7:108351800-108352200	Enhancers	Dnd41	blood
38	chr7:108351800-108352400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:108352000-108352800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:108352200-108352800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:108352200-108356800	Weak transcription	Fetal Stomach	stomach
42	chr7:108352200-108357000	Weak transcription	Dnd41	blood
43	chr7:108352400-108354600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:108354600-108355000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:108356200-108357400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:108356200-108357400	Enhancers	Osteobl	bone
47	chr7:108356800-108357000	Enhancers	Fetal Stomach	stomach
48	chr7:108356800-108357400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:108356800-108357400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr7:108356800-108357400	Enhancers	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links