Variant report

Variant	nsv876926
Chromosome Location	chr3:68204939-68282529
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:167)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:167 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr3:68251296-68251397	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr3:68250635-68250945	HepG2	liver:	n/a	chr3:68250768-68250779
3	CEBPB	chr3:68234269-68234337	A549	lung:	n/a	n/a
4	CEBPB	chr3:68221977-68222241	HepG2	liver:	n/a	chr3:68222102-68222113
5	CEBPB	chr3:68216840-68217068	HepG2	liver:	n/a	chr3:68216978-68216989
6	CEBPB	chr3:68274869-68275082	HepG2	liver:	n/a	chr3:68274991-68275002
7	CEBPB	chr3:68235190-68235394	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr3:68255780-68255930	HepG2	liver:	n/a	n/a
9	CTCF	chr3:68255789-68255955	MCF-7	breast:	n/a	n/a
10	CTCF	chr3:68255800-68255950	HL-60	blood:	n/a	n/a
11	CTCF	chr3:68255800-68255950	GM12878	blood:	n/a	n/a
12	CTCF	chr3:68255740-68255890	SK-N-SH_RA	brain:	n/a	n/a
13	CTCF	chr3:68255788-68255929	HepG2	liver:	n/a	n/a
14	CTCF	chr3:68255680-68255830	HVMF	connective:	n/a	n/a
15	CTCF	chr3:68255740-68255890	GM12874	blood:	n/a	n/a
16	CTCF	chr3:68255865-68255901	K562	blood:	n/a	n/a
17	CTCF	chr3:68255768-68255940	LNCaP	prostate:	n/a	n/a
18	CTCF	chr3:68255820-68255970	GM12875	blood:	n/a	n/a
19	CTCF	chr3:68255780-68255930	RPTEC	kidney:	n/a	n/a
20	CTCF	chr3:68255780-68255930	GM12873	blood:	n/a	n/a
21	CTCF	chr3:68255740-68255890	GM12866	blood:	n/a	n/a
22	CTCF	chr3:68255760-68255910	A549	lung:	n/a	n/a
23	CTCF	chr3:68255840-68255990	GM12868	blood:	n/a	n/a
24	CTCF	chr3:68255680-68255830	GM12871	blood:	n/a	n/a
25	CTCF	chr3:68255780-68255930	GM06990	blood:	n/a	n/a
26	CTCF	chr3:68255752-68256011	IMR90	lung:	n/a	n/a
27	CTCF	chr3:68255772-68255965	GM12878	blood:	n/a	n/a
28	CTCF	chr3:68255780-68255930	GM12872	blood:	n/a	n/a
29	CTCF	chr3:68255800-68255920	LNCaP	prostate:	n/a	n/a
30	CTCF	chr3:68255816-68255896	Medullo	brain:	n/a	n/a
31	CTCF	chr3:68255860-68256010	GM12864	blood:	n/a	n/a
32	CTCF	chr3:68255758-68255908	A549	lung:	n/a	n/a
33	CTCF	chr3:68255780-68255930	GM12865	blood:	n/a	n/a
34	CTCF	chr3:68255827-68255902	GM13977	blood:	n/a	n/a
35	CTCF	chr3:68255720-68255870	BE2_C	brain:	n/a	n/a
36	CTCF	chr3:68255600-68255750	HRE	kidney:	n/a	n/a
37	CTCF	chr3:68255760-68255910	GM12874	blood:	n/a	n/a
38	CTCF	chr3:68255840-68255990	GM12864	blood:	n/a	n/a
39	CTCF	chr3:68255840-68255990	GM12873	blood:	n/a	n/a
40	CTCF	chr3:68255860-68256010	GM12865	blood:	n/a	n/a
41	CTCF	chr3:68255840-68255990	GM12865	blood:	n/a	n/a
42	CTCF	chr3:68235900-68236050	GM12864	blood:	n/a	n/a
43	CTCF	chr3:68255920-68256070	MCF-7	breast:	n/a	n/a
44	CTCF	chr3:68255780-68255930	MCF-7	breast:	n/a	n/a
45	CTCF	chr3:68255780-68255930	NB4	blood:	n/a	n/a
46	CTCF	chr3:68255720-68255870	HVMF	connective:	n/a	n/a
47	CTCF	chr3:68255760-68255910	GM06990	blood:	n/a	n/a
48	CTCF	chr3:68255700-68255850	Caco-2	colon:	n/a	n/a
49	CTCF	chr3:68255840-68255990	AG04450	lung:	n/a	n/a
50	CTCF	chr3:68255720-68255870	GM12873	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:68260944..68263531-chr3:68263776..68266354,2	K562	blood:
2	chr3:67951814..67952581-chr3:68255379..68256164,2	MCF-7	breast:
3	chr3:68228464..68231437-chr3:68234826..68237803,2	K562	blood:
4	chr3:68228464..68231437-chr3:68234826..68237803,2	K562	blood:
5	chr3:68207392..68209217-chr3:68210533..68213462,2	K562	blood:
6	chr3:68207392..68209217-chr3:68210533..68213462,2	K562	blood:
7	chr3:68260944..68263531-chr3:68263776..68266354,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000240568	TF binding region

Extended variants
information (count: 599 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:599 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552381840	chr3:68211613-68211614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149426590	chr3:68211628-68211629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs59989065	chr3:68211640-68211641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563053592	chr3:68211722-68211723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532080394	chr3:68211761-68211762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548890610	chr3:68211793-68211794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561713160	chr3:68211873-68211874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1595489	chr3:68211926-68211927	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs189154935	chr3:68211946-68211947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570497458	chr3:68211986-68211987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539136792	chr3:68211996-68211997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528647367	chr3:68212015-68212016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368718480	chr3:68212069-68212070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6792628	chr3:68212211-68212212	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs527738437	chr3:68212221-68212222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146372233	chr3:68212298-68212299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535403458	chr3:68212299-68212300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555192363	chr3:68212357-68212358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374772896	chr3:68212443-68212444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565998482	chr3:68212459-68212460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139716228	chr3:68212467-68212468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553998934	chr3:68212527-68212528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577297207	chr3:68212531-68212532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545968289	chr3:68212534-68212535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs367837717	chr3:68212553-68212554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191451703	chr3:68212596-68212597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541513158	chr3:68212633-68212634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142918316	chr3:68212636-68212637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs199951324	chr3:68212662-68212663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542543867	chr3:68212731-68212732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562329493	chr3:68212761-68212762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527305478	chr3:68212779-68212780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556696257	chr3:68212810-68212811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547396134	chr3:68212915-68212916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77461133	chr3:68212925-68212926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533088554	chr3:68212954-68212955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549798243	chr3:68212961-68212962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549606723	chr3:68212990-68212991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146215367	chr3:68212992-68212993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569622573	chr3:68213011-68213012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376430125	chr3:68213062-68213063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548878446	chr3:68213097-68213098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565612982	chr3:68213105-68213106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534594383	chr3:68213136-68213137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554174462	chr3:68213138-68213139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570751985	chr3:68213159-68213160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368875802	chr3:68213178-68213179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs74960196	chr3:68213198-68213199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556648590	chr3:68213201-68213202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73834867	chr3:68213261-68213262	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:68211600-68213400	Enhancers	Fetal Lung	lung
2	chr3:68215400-68215800	Enhancers	H1 Cell Line	embryonic stem cell
3	chr3:68215400-68215800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr3:68215400-68216000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr3:68215400-68216000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr3:68215400-68216200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr3:68215800-68216400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr3:68221400-68221600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr3:68231000-68231400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr3:68253600-68254600	Enhancers	Fetal Intestine Large	intestine
11	chr3:68257400-68258200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:68258600-68259000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:68259000-68259800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:68259800-68260000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:68260000-68260200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:68260200-68260600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:68269800-68270600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr3:68275200-68276400	Enhancers	Fetal Stomach	stomach
19	chr3:68275400-68276400	Enhancers	Brain Angular Gyrus	brain
20	chr3:68275400-68276800	Enhancers	Brain Hippocampus Middle	brain
21	chr3:68275600-68276000	Enhancers	Brain Substantia Nigra	brain
22	chr3:68275600-68276800	Enhancers	Brain Cingulate Gyrus	brain
23	chr3:68276000-68276600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr3:68276400-68276800	Weak transcription	Fetal Stomach	stomach
25	chr3:68276400-68277000	Enhancers	Fetal Brain Female	brain
26	chr3:68276800-68277600	Enhancers	Fetal Stomach	stomach
27	chr3:68276800-68277800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr3:68276800-68277800	Weak transcription	Brain Hippocampus Middle	brain
29	chr3:68277000-68277400	Weak transcription	Fetal Brain Female	brain
30	chr3:68277400-68279000	Enhancers	Fetal Brain Female	brain
31	chr3:68277800-68278000	Enhancers	Brain Cingulate Gyrus	brain
32	chr3:68278000-68278200	Enhancers	Brain Hippocampus Middle	brain
33	chr3:68278000-68278400	Enhancers	Fetal Brain Male	brain
34	chr3:68278400-68283600	Weak transcription	Fetal Brain Male	brain

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