Variant report

Variant	nsv1031488
Chromosome Location	chr8:114382671-114419106
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	BACH1	chr8:114394599-114394673	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr8:114397532-114397793	HepG2	liver:	n/a	n/a
3	CEBPB	chr8:114390830-114391124	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr8:114390940-114391090	HEEpiC	esophagus:	n/a	n/a
5	CTCF	chr8:114390900-114391050	BE2_C	brain:	n/a	n/a
6	CTCF	chr8:114384706-114384837	GM10266	blood:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
7	CTCF	chr8:114384640-114384790	A549	lung:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
8	CTCF	chr8:114390920-114391070	HEK293	kidney:	n/a	n/a
9	CTCF	chr8:114390960-114391110	HRPEpiC	eye:	n/a	n/a
10	CTCF	chr8:114384680-114384830	HA-sp	spinal cord:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
11	CTCF	chr8:114384660-114384810	SK-N-SH_RA	brain:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
12	CTCF	chr8:114384700-114384850	HFF-Myc	foreskin:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
13	CTCF	chr8:114384700-114384850	HPF	lung:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
14	CTCF	chr8:114384700-114384850	GM12869	blood:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
15	CTCF	chr8:114384700-114384850	Caco-2	colon:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
16	CTCF	chr8:114384660-114384810	GM12874	blood:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
17	CTCF	chr8:114384700-114384850	HCM	heart:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
18	CTCF	chr8:114384680-114384830	GM12873	blood:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
19	CTCF	chr8:114390920-114391070	GM12874	blood:	n/a	n/a
20	CTCF	chr8:114390840-114391130	HRE	kidney:	n/a	n/a
21	CTCF	chr8:114384600-114384750	HEEpiC	esophagus:	n/a	n/a
22	CTCF	chr8:114390860-114391150	RPTEC	kidney:	n/a	n/a
23	CTCF	chr8:114384720-114384870	Hela-S3	cervix:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
24	CTCF	chr8:114384640-114384790	GM12872	blood:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
25	CTCF	chr8:114384720-114384870	HEK293	kidney:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
26	CTCF	chr8:114390948-114391103	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr8:114390906-114391158	Medullo	brain:	n/a	n/a
28	CTCF	chr8:114410760-114410910	HCT-116	colon:	n/a	n/a
29	CTCF	chr8:114384631-114384878	SK-N-SH_RA	brain:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
30	CTCF	chr8:114384700-114384850	MCF-7	breast:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
31	CTCF	chr8:114384680-114384830	GM06990	blood:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
32	CTCF	chr8:114390961-114391081	GM13977	blood:	n/a	n/a
33	CTCF	chr8:114384700-114384850	HRE	kidney:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
34	CTCF	chr8:114384700-114384850	HRPEpiC	eye:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
35	CTCF	chr8:114384600-114384750	GM12869	blood:	n/a	n/a
36	CTCF	chr8:114384700-114384850	NHDF-neo	bronchial:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
37	CTCF	chr8:114384660-114384810	GM12865	blood:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
38	CTCF	chr8:114384664-114384848	Medullo	brain:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
39	CTCF	chr8:114384660-114384810	BE2_C	brain:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
40	CTCF	chr8:114390940-114391090	HMEC	breast:	n/a	n/a
41	CTCF	chr8:114384640-114384790	HCT-116	colon:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
42	CTCF	chr8:114390843-114391106	T-47D	breast:	n/a	n/a
43	CTCF	chr8:114390920-114391070	GM12865	blood:	n/a	n/a
44	CTCF	chr8:114384640-114384790	MCF-7	breast:	n/a	chr8:114384756-114384777 chr8:114384754-114384772
45	CTCF	chr8:114390900-114391050	HBMEC	blood vessel:	n/a	n/a
46	CTCF	chr8:114390960-114391110	GM12872	blood:	n/a	n/a
47	CTCF	chr8:114394996-114395043	Medullo	brain:	n/a	n/a
48	CTCF	chr8:114390960-114391110	HPF	lung:	n/a	n/a
49	CTCF	chr8:114390898-114391107	MCF-7	breast:	n/a	n/a
50	CTCF	chr8:114384620-114384770	SAEC	small airway:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:114389168-114389218	Caco-2	colon:	n/a
2	chr8:114389383-114389433	BE2_C	brain:	n/a
3	chr8:114389383-114389433	NB4	blood:	n/a
4	chr8:114389168-114389218	Caco-2	colon:	n/a
5	chr8:114389383-114389433	BE2_C	brain:	n/a
6	chr8:114389383-114389433	NB4	blood:	n/a
7	chr8:114389168-114389218	K562	blood:	n/a
8	chr8:114390877-114390927	ovcar-3	ovarian:	n/a
9	chr8:114389168-114389218	HRPEpiC	eye:	n/a
10	chr8:114389168-114389218	Hepatocyte	liver:	n/a
11	chr8:114389383-114389433	NH-A	brain:	n/a
12	chr8:114389383-114389433	HEEpiC	esophagus:	n/a
13	chr8:114390877-114390927	HCM	heart:	n/a
14	chr8:114389383-114389433	PFSK-1	brain:	n/a
15	chr8:114389388-114389438	HCM	heart:	n/a
16	chr8:114389388-114389438	AG09309	skin:	n/a
17	chr8:114389356-114389406	Hela-S3	cervix:	n/a
18	chr8:114389168-114389218	AG09309	skin:	n/a
19	chr8:114389168-114389218	HepG2	liver:	n/a
20	chr8:114389356-114389406	AG09319	gingival:	n/a
21	chr8:114389479-114389529	GM06990	blood:	n/a
22	chr8:114389438-114389488	A549	lung:	n/a
23	chr8:114390877-114390927	AG04450	lung:	fetal
24	chr8:114389383-114389433	HCPEpiC	choroid plexus:	n/a
25	chr8:114390877-114390927	SK-N-SH	brain:	n/a
26	chr8:114389168-114389218	AG04449	skin:	fetal
27	chr8:114390877-114390927	ECC-1	luminal epithelium:	n/a
28	chr8:114389168-114389218	NB4	blood:	n/a
29	chr8:114389356-114389406	T-47D	breast:	n/a
30	chr8:114389479-114389529	MCF10A-Er-Src	breast:	n/a
31	chr8:114389388-114389438	NHDF-neo	bronchial:	n/a
32	chr8:114389383-114389433	SK-N-MC	brain:	n/a
33	chr8:114389388-114389438	AG09319	gingival:	n/a
34	chr8:114389388-114389438	CMK	blood:	n/a
35	chr8:114390877-114390927	HL-60	blood:	n/a
36	chr8:114389168-114389218	ovcar-3	ovarian:	n/a
37	chr8:114389383-114389433	Hepatocyte	liver:	n/a
38	chr8:114389383-114389433	H1-hESC	embryonic stem cell:	embryo
39	chr8:114389383-114389433	SK-N-SH_RA	brain:	n/a
40	chr8:114389388-114389438	HIPEpiC	eye:	n/a
41	chr8:114390877-114390927	HCF	heart:	n/a
42	chr8:114389438-114389488	H1-hESC	embryonic stem cell:	embryo
43	chr8:114389438-114389488	T-47D	breast:	n/a
44	chr8:114390877-114390927	AG09309	skin:	n/a
45	chr8:114390877-114390927	GM12892	blood:	n/a
46	chr8:114389388-114389438	ProgFib	skin:	n/a
47	chr8:114389479-114389529	HEK293	kidney:	embryo
48	chr8:114389479-114389529	IMR90	lung:	fetal
49	chr8:114389438-114389488	Caco-2	colon:	n/a
50	chr8:114389356-114389406	Hepatocyte	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:114189402..114189999-chr8:114390956..114391473,2	MCF-7	breast:
2	chr8:113774024..113774627-chr8:114390471..114391174,2	MCF-7	breast:
3	chr8:114384438..114385053-chr8:114992865..114993457,2	MCF-7	breast:
4	chr8:114404848..114406539-chr8:114407896..114409695,2	K562	blood:
5	chr8:114404848..114406539-chr8:114407896..114409695,2	K562	blood:
6	chr8:114214112..114215316-chr8:114390224..114391492,6	MCF-7	breast:

Variant related genes	Relation type
CSMD3	TF binding region
ENSG00000227514	TF binding region
CSMD3	CpG island
ENSG00000227514	CpG island

Extended variants
information (count: 1051 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:1051 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141886968	chr8:114384059-114384060	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs568799087	chr8:114384080-114384081	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs146053213	chr8:114384085-114384086	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs80106164	chr8:114384143-114384144	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs564134740	chr8:114384422-114384423	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs138749327	chr8:114384423-114384424	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs553432169	chr8:114384478-114384479	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs549898466	chr8:114384517-114384518	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs10108074	chr8:114384533-114384534	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs369666881	chr8:114384582-114384583	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs187233718	chr8:114384596-114384597	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs549021598	chr8:114384602-114384603	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs191892571	chr8:114384607-114384608	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs182285503	chr8:114384627-114384628	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs535589204	chr8:114384637-114384638	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs186944471	chr8:114384655-114384656	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs540068328	chr8:114384668-114384669	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs556220128	chr8:114384678-114384679	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs193018661	chr8:114384683-114384684	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs185690123	chr8:114384715-114384716	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs555133151	chr8:114384719-114384720	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs569003786	chr8:114384852-114384853	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs189871339	chr8:114384875-114384876	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs555356075	chr8:114384882-114384883	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs572263165	chr8:114384891-114384892	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs79773290	chr8:114384905-114384906	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs78041690	chr8:114384906-114384907	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs149373932	chr8:114384922-114384923	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs558079776	chr8:114384929-114384930	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs557779093	chr8:114384954-114384955	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs113718916	chr8:114384987-114384988	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs562509619	chr8:114385007-114385008	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs3860882	chr8:114385023-114385024	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs575348992	chr8:114385024-114385025	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs529014385	chr8:114385025-114385026	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs542606199	chr8:114385031-114385032	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs372834458	chr8:114385032-114385033	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs558147385	chr8:114386013-114386014	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs533708050	chr8:114386085-114386086	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs79494147	chr8:114386117-114386118	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs375357452	chr8:114386420-114386421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181929885	chr8:114386487-114386488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187568255	chr8:114386506-114386507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573868009	chr8:114386558-114386559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114188144	chr8:114386568-114386569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552768114	chr8:114386614-114386615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572919289	chr8:114386686-114386687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544647544	chr8:114386754-114386755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73341959	chr8:114386772-114386773	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs2127058	chr8:114386813-114386814	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114386400-114387000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr8:114390400-114391000	Active TSS	Brain Angular Gyrus	brain
3	chr8:114390400-114391000	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr8:114390400-114391000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:114390400-114391200	Active TSS	Brain Anterior Caudate	brain
6	chr8:114390400-114391200	Active TSS	Brain Substantia Nigra	brain
7	chr8:114390800-114391000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:114390800-114391000	Enhancers	Pancreas	Pancrea
9	chr8:114390800-114391000	Enhancers	Hela-S3	cervix
10	chr8:114391000-114391200	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr8:114391000-114391200	Enhancers	Fetal Lung	lung
12	chr8:114391200-114391400	Enhancers	Brain Anterior Caudate	brain
13	chr8:114391200-114392800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr8:114391400-114391800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr8:114392000-114392200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr8:114392000-114393000	Enhancers	Fetal Brain Female	brain
17	chr8:114392200-114392600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr8:114392800-114393200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr8:114393000-114393200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr8:114393200-114398800	Weak transcription	Fetal Lung	lung
21	chr8:114398800-114399000	Enhancers	Fetal Lung	lung
22	chr8:114399000-114399600	Weak transcription	Fetal Lung	lung
23	chr8:114399600-114399800	Enhancers	Fetal Lung	lung
24	chr8:114399800-114415000	Weak transcription	Fetal Lung	lung
25	chr8:114415000-114418400	Enhancers	Fetal Lung	lung

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