Variant report

Variant	nsv1030649
Chromosome Location	chr5:114324590-114390181
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:226)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:226 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:114389914-114390321	HepG2	liver:	n/a	n/a
2	CEBPB	chr5:114367286-114367573	IMR90	lung:	n/a	n/a
3	CEBPB	chr5:114388697-114388980	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr5:114367287-114367466	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr5:114388673-114388975	HepG2	liver:	n/a	n/a
6	CEBPB	chr5:114367353-114367583	A549	lung:	n/a	n/a
7	CEBPB	chr5:114367276-114367583	HepG2	liver:	n/a	n/a
8	CHD2	chr5:114344708-114344735	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr5:114369722-114369774	GM12878	blood:	n/a	n/a
10	CTCF	chr5:114369700-114369850	GM12869	blood:	n/a	n/a
11	CTCF	chr5:114369625-114369905	MCF-7	breast:	n/a	n/a
12	CTCF	chr5:114369640-114369790	GM12873	blood:	n/a	n/a
13	CTCF	chr5:114369640-114369790	BJ	skin:	n/a	n/a
14	CTCF	chr5:114369660-114369810	NHDF-neo	bronchial:	n/a	n/a
15	CTCF	chr5:114369700-114369850	HepG2	liver:	n/a	n/a
16	CTCF	chr5:114369673-114369839	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr5:114369532-114370117	A549	lung:	n/a	n/a
18	CTCF	chr5:114369680-114369830	WERI-Rb-1	eye:	n/a	n/a
19	CTCF	chr5:114369780-114369930	HVMF	connective:	n/a	n/a
20	CTCF	chr5:114369640-114369790	GM12878	blood:	n/a	n/a
21	CTCF	chr5:114369620-114369770	HMEC	breast:	n/a	n/a
22	CTCF	chr5:114369618-114369902	MCF-7	breast:	n/a	n/a
23	CTCF	chr5:114369720-114369870	NHEK	skin:	n/a	n/a
24	CTCF	chr5:114369660-114369810	GM12872	blood:	n/a	n/a
25	CTCF	chr5:114369688-114369842	GM13976	blood:	n/a	n/a
26	CTCF	chr5:114369680-114369830	A549	lung:	n/a	n/a
27	CTCF	chr5:114369680-114369830	GM06990	blood:	n/a	n/a
28	CTCF	chr5:114369645-114369876	A549	lung:	n/a	n/a
29	CTCF	chr5:114369550-114369991	MCF-7	breast:	n/a	n/a
30	CTCF	chr5:114369609-114369869	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr5:114369680-114369830	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr5:114351760-114351829	GM13976	blood:	n/a	n/a
33	CTCF	chr5:114369729-114369841	GM20000	blood:	n/a	n/a
34	CTCF	chr5:114369660-114369810	AG04449	skin:	n/a	n/a
35	CTCF	chr5:114369566-114369944	GM12878	blood:	n/a	n/a
36	CTCF	chr5:114333380-114333530	GM12873	blood:	n/a	n/a
37	CTCF	chr5:114369660-114369810	GM12868	blood:	n/a	n/a
38	CTCF	chr5:114369639-114369877	GM12892	blood:	n/a	n/a
39	CTCF	chr5:114369700-114369850	GM12865	blood:	n/a	n/a
40	CTCF	chr5:114369630-114369896	MCF-7	breast:	n/a	n/a
41	CTCF	chr5:114333478-114333537	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr5:114369680-114369830	GM12870	blood:	n/a	n/a
43	CTCF	chr5:114369600-114369750	HFF-Myc	foreskin:	n/a	n/a
44	CTCF	chr5:114369740-114369890	NHDF-neo	bronchial:	n/a	n/a
45	CTCF	chr5:114369720-114369870	GM12865	blood:	n/a	n/a
46	CTCF	chr5:114369640-114369790	HepG2	liver:	n/a	n/a
47	CTCF	chr5:114369680-114369830	BJ	skin:	n/a	n/a
48	CTCF	chr5:114369660-114369810	HCT-116	colon:	n/a	n/a
49	CTCF	chr5:114369720-114369870	GM12878	blood:	n/a	n/a
50	CTCF	chr5:114369623-114369908	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:114365928-114365978	GM19239	blood:	n/a
2	chr5:114365928-114365978	Caco-2	colon:	n/a
3	chr5:114365928-114365978	PANC-1	pancreas:	n/a
4	chr5:114365928-114365978	IMR90	lung:	fetal
5	chr5:114365928-114365978	AG09319	gingival:	n/a
6	chr5:114365928-114365978	GM06990	blood:	n/a
7	chr5:114365928-114365978	AG04449	skin:	fetal
8	chr5:114365928-114365978	Hela-S3	cervix:	n/a
9	chr5:114365928-114365978	MCF10A-Er-Src	breast:	n/a
10	chr5:114365928-114365978	GM12892	blood:	n/a
11	chr5:114365928-114365978	SK-N-SH_RA	brain:	n/a
12	chr5:114365928-114365978	HCPEpiC	choroid plexus:	n/a
13	chr5:114365928-114365978	BE2_C	brain:	n/a
14	chr5:114365928-114365978	HRCEpiC	kidney:	n/a
15	chr5:114365928-114365978	HIPEpiC	eye:	n/a
16	chr5:114365928-114365978	GM12891	blood:	n/a
17	chr5:114365928-114365978	HCT-116	colon:	n/a
18	chr5:114365928-114365978	T-47D	breast:	n/a
19	chr5:114365928-114365978	NHDF-neo	bronchial:	n/a
20	chr5:114365928-114365978	A549	lung:	n/a
21	chr5:114365928-114365978	HCF	heart:	n/a
22	chr5:114365928-114365978	HRPEpiC	eye:	n/a
23	chr5:114365928-114365978	HNPCEpiC	eye:	n/a
24	chr5:114365928-114365978	HEEpiC	esophagus:	n/a
25	chr5:114365928-114365978	AG09309	skin:	n/a
26	chr5:114365928-114365978	CMK	blood:	n/a
27	chr5:114365928-114365978	SKMC	muscle:	n/a
28	chr5:114365928-114365978	Jurkat	blood:	n/a
29	chr5:114365928-114365978	Hepatocyte	liver:	n/a
30	chr5:114365928-114365978	NH-A	brain:	n/a
31	chr5:114365928-114365978	HepG2	liver:	n/a
32	chr5:114365928-114365978	NT2-D1	testis:	n/a
33	chr5:114365928-114365978	NB4	blood:	n/a
34	chr5:114365928-114365978	SK-N-SH	brain:	n/a
35	chr5:114365928-114365978	HPAEpiC	pulmonary alveolar:	n/a
36	chr5:114365928-114365978	PFSK-1	brain:	n/a
37	chr5:114365928-114365978	RPTEC	kidney:	n/a
38	chr5:114365928-114365978	AoSMC	blood vessel:	n/a
39	chr5:114365928-114365978	HMEC	breast:	n/a
40	chr5:114365928-114365978	HL-60	blood:	n/a
41	chr5:114365928-114365978	HRE	kidney:	n/a
42	chr5:114365928-114365978	MCF-7	breast:	n/a
43	chr5:114365928-114365978	HAEpiC	amniotic membrane:	n/a
44	chr5:114365928-114365978	ProgFib	skin:	n/a
45	chr5:114365928-114365978	H1-hESC	embryonic stem cell:	embryo
46	chr5:114365928-114365978	HCM	heart:	n/a
47	chr5:114365928-114365978	SAEC	small airway:	n/a
48	chr5:114365928-114365978	PrEC	prostate:	n/a
49	chr5:114365928-114365978	NHBE	bronchial:	n/a
50	chr5:114365928-114365978	U87	brain:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:114139161..114139984-chr5:114369361..114370136,2	MCF-7	breast:
2	chr5:113785328..113785951-chr5:114369489..114370463,2	MCF-7	breast:
3	chr5:114138711..114139387-chr5:114369334..114369873,2	MCF-7	breast:
4	chr5:114133331..114134215-chr5:114369304..114370183,3	MCF-7	breast:
5	chr22:21978725..21981306-chr5:114359469..114360989,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251132	TF binding region
ENSG00000251132	CpG island

Extended variants
information (count: 745 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:745 , 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	rs1453026	chr5:114324590-114324591	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536541480	chr5:114324601-114324602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372019907	chr5:114324644-114324645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188458052	chr5:114324682-114324683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536325892	chr5:114324697-114324698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545409395	chr5:114324708-114324709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs193218592	chr5:114324716-114324717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558750024	chr5:114324720-114324721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185681984	chr5:114324721-114324722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2123470	chr5:114324733-114324734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554689176	chr5:114324769-114324770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114768624	chr5:114324785-114324786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566457853	chr5:114324791-114324792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537553795	chr5:114325224-114325225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs564866814	chr5:114325235-114325236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs527320568	chr5:114325288-114325289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs116301209	chr5:114325322-114325323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs567393700	chr5:114325325-114325326	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs529883992	chr5:114325326-114325327	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs10039781	chr5:114325327-114325328	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs569801271	chr5:114325342-114325343	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs538918010	chr5:114325355-114325356	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs558617583	chr5:114325373-114325374	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs188502816	chr5:114325381-114325382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs534723831	chr5:114325387-114325388	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs62381427	chr5:114325401-114325402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs559881821	chr5:114325412-114325413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs554615092	chr5:114325416-114325417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs181355792	chr5:114325421-114325422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs116019714	chr5:114325422-114325423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs10039813	chr5:114325456-114325457	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs577406425	chr5:114325504-114325505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs546461488	chr5:114325510-114325511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs145218916	chr5:114325511-114325512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs572044936	chr5:114325513-114325514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs541045426	chr5:114325515-114325516	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs185152591	chr5:114325518-114325519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs529796674	chr5:114325521-114325522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs549653692	chr5:114325534-114325535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs563486473	chr5:114325552-114325553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs201566604	chr5:114325569-114325570	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs190133420	chr5:114325600-114325601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs200992606	chr5:114327801-114327802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375200030	chr5:114327812-114327813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558047792	chr5:114327826-114327827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs578004537	chr5:114327831-114327832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540584894	chr5:114327859-114327860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191790709	chr5:114327888-114327889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574019467	chr5:114327901-114327902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs56239364	chr5:114327926-114327927	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114323600-114324800	Enhancers	Brain Hippocampus Middle	brain
2	chr5:114324200-114324600	Enhancers	Brain Cingulate Gyrus	brain
3	chr5:114325200-114325600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:114327800-114328600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr5:114328400-114328800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr5:114335000-114335200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:114342200-114342800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:114352000-114352400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr5:114352000-114354800	Enhancers	Fetal Lung	lung
10	chr5:114358400-114358600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:114364000-114364800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr5:114364200-114364800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:114364200-114365000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:114364400-114364800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr5:114364400-114364800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr5:114364400-114364800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:114364400-114365000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr5:114364400-114365000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr5:114364400-114365000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr5:114364400-114365000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr5:114364600-114365000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr5:114364600-114365000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:114383000-114383400	Enhancers	Brain Cingulate Gyrus	brain
24	chr5:114383000-114384000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr5:114384000-114389200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:114385600-114386200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:114385800-114386200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr5:114386400-114387000	Enhancers	Liver	Liver
29	chr5:114387000-114390000	Weak transcription	Liver	Liver
30	chr5:114388200-114390800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr5:114388400-114388800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr5:114388400-114389000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr5:114388600-114389000	Enhancers	H9 Cell Line	embryonic stem cell
34	chr5:114388800-114390600	Enhancers	HepG2	liver
35	chr5:114389200-114389400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr5:114389200-114390400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr5:114389800-114390400	Enhancers	Pancreas	Pancrea
38	chr5:114390000-114390400	Enhancers	Liver	Liver

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