Variant report

Variant	nsv1027932
Chromosome Location	chr5:117004237-117061745
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	BATF	chr5:117036830-117037055	GM12878	blood:	n/a	chr5:117036937-117036948
2	CBX3	chr5:117049291-117049655	K562	blood:	n/a	n/a
3	CBX3	chr5:117049274-117049666	K562	blood:	n/a	n/a
4	CBX3	chr5:117049153-117049707	HCT-116	colon:	n/a	n/a
5	CBX3	chr5:117049184-117049819	HCT-116	colon:	n/a	n/a
6	CEBPB	chr5:117026047-117026258	A549	lung:	n/a	chr5:117026085-117026098
7	CEBPZ	chr5:117049337-117049629	HepG2	liver:	n/a	n/a
8	CHD2	chr5:117027526-117027566	GM12878	blood:	n/a	n/a
9	CTCF	chr5:117009780-117009930	AoAF	blood vessel:	n/a	n/a
10	CTCF	chr5:117049440-117049590	NHEK	skin:	n/a	n/a
11	CTCF	chr5:117014925-117014947	MCF-7	breast:	n/a	n/a
12	E2F4	chr5:117049850-117050028	MCF10A-Er-Src	breast:	n/a	n/a
13	E2F4	chr5:117043607-117043713	MCF10A-Er-Src	breast:	n/a	n/a
14	E2F4	chr5:117023821-117023904	MCF10A-Er-Src	breast:	n/a	n/a
15	EBF1	chr5:117027540-117027653	GM12878	blood:	n/a	n/a
16	ELF1	chr5:117049201-117049754	HCT-116	colon:	n/a	n/a
17	EP300	chr5:117038808-117038875	GM12878	blood:	n/a	n/a
18	EP300	chr5:117028299-117028590	SK-N-SH_RA	brain:	n/a	n/a
19	EP300	chr5:117028319-117028620	SK-N-SH_RA	brain:	n/a	n/a
20	EP300	chr5:117026735-117027618	SK-N-SH	brain:	n/a	chr5:117026822-117026832 chr5:117027257-117027271
21	EP300	chr5:117049356-117049650	K562	blood:	n/a	n/a
22	EP300	chr5:117017590-117017880	SK-N-SH_RA	brain:	n/a	n/a
23	EP300	chr5:117049312-117049533	SK-N-SH_RA	brain:	n/a	n/a
24	EP300	chr5:117017339-117018179	SK-N-SH	brain:	n/a	chr5:117017921-117017935
25	EP300	chr5:117049410-117049602	GM12878	blood:	n/a	n/a
26	EP300	chr5:117017598-117017898	SK-N-SH_RA	brain:	n/a	n/a
27	EP300	chr5:117049218-117049689	ECC-1	luminal epithelium:	n/a	n/a
28	EP300	chr5:117028058-117029111	SK-N-SH	brain:	n/a	n/a
29	EP300	chr5:117049313-117049626	ECC-1	luminal epithelium:	n/a	n/a
30	FOS	chr5:117036775-117037055	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr5:117036846-117037076	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr5:117036775-117037129	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr5:117049389-117049401	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr5:117036859-117037091	MCF10A-Er-Src	breast:	n/a	n/a
35	FOXA1	chr5:117016153-117016451	T-47D	breast:	n/a	chr5:117016336-117016348
36	FOXA1	chr5:117016108-117016439	T-47D	breast:	n/a	chr5:117016336-117016348
37	FOXA1	chr5:117026750-117026890	T-47D	breast:	n/a	n/a
38	GATA2	chr5:117026477-117027415	SH-SY5Y	brain:	n/a	n/a
39	GATA2	chr5:117028244-117028753	SH-SY5Y	brain:	n/a	n/a
40	GATA2	chr5:117017306-117017980	SH-SY5Y	brain:	n/a	chr5:117017649-117017657
41	GATA3	chr5:117016117-117016422	T-47D	breast:	n/a	chr5:117016203-117016213
42	GATA3	chr5:117028237-117028727	SH-SY5Y	brain:	n/a	n/a
43	GATA3	chr5:117017528-117017917	SH-SY5Y	brain:	n/a	chr5:117017649-117017657
44	GATA3	chr5:117040289-117040487	SH-SY5Y	brain:	n/a	n/a
45	GATA3	chr5:117040409-117040536	MCF-7	breast:	n/a	n/a
46	GATA3	chr5:117027013-117027461	SH-SY5Y	brain:	n/a	n/a
47	GATA3	chr5:117044332-117044659	SH-SY5Y	brain:	n/a	n/a
48	GATA3	chr5:117012011-117012689	SH-SY5Y	brain:	n/a	n/a
49	GATA3	chr5:117028173-117028627	SK-N-SH	brain:	n/a	n/a
50	HCFC1	chr5:117049411-117049447	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:117050991..117053069-chr5:117068100..117070459,2	MCF-7	breast:
2	chr5:117005779..117008314-chr5:117034629..117036437,2	K562	blood:
3	chr5:117005779..117008314-chr5:117034629..117036437,2	K562	blood:
4	chr5:117005684..117008647-chr5:117010420..117012880,2	K562	blood:
5	chr5:117005684..117008647-chr5:117010420..117012880,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTWD2-13	chr5:117054935-117055640	NONHSAT103389
2	lnc-DTWD2-13	chr5:117057573-117057792	NONHSAT103389

Variant related genes	Relation type
ENSG00000251477	TF binding region

Extended variants
information (count: 717 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:717 , 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	rs116284684	chr5:117004248-117004249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73786918	chr5:117004256-117004257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs538422643	chr5:117004330-117004331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184159113	chr5:117004354-117004355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551201006	chr5:117004385-117004386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115381470	chr5:117004391-117004392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370951514	chr5:117004412-117004413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533282739	chr5:117004413-117004414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112005471	chr5:117004440-117004441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546702944	chr5:117004460-117004461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149172929	chr5:117004481-117004482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374795606	chr5:117004484-117004485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74426058	chr5:117004531-117004532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555470285	chr5:117004567-117004568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143301992	chr5:117004595-117004596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374985709	chr5:117004641-117004642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189505587	chr5:117004661-117004662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557228729	chr5:117004690-117004691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1358225	chr5:117004693-117004694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181934673	chr5:117004697-117004698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539616493	chr5:117004705-117004706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553107735	chr5:117004763-117004764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368078100	chr5:117004764-117004765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542603934	chr5:117004777-117004778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572933909	chr5:117004803-117004804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554853196	chr5:117004838-117004839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541849609	chr5:117004846-117004847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541146309	chr5:117004893-117004894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575907847	chr5:117004914-117004915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200923463	chr5:117004925-117004926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575920046	chr5:117004929-117004930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56819255	chr5:117004957-117004958	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs564946186	chr5:117005012-117005013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564402608	chr5:117005034-117005035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs60808813	chr5:117005080-117005081	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs564651275	chr5:117005129-117005130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554027575	chr5:117005162-117005163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533165166	chr5:117005185-117005186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529369183	chr5:117005229-117005230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112792996	chr5:117005251-117005252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569144451	chr5:117005297-117005298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538206501	chr5:117005308-117005309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185682632	chr5:117005320-117005321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373198754	chr5:117005337-117005338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570712597	chr5:117005338-117005339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545607540	chr5:117005367-117005368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111590249	chr5:117005372-117005373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17346050	chr5:117005392-117005393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189622642	chr5:117005405-117005406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572939420	chr5:117005466-117005467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
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	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
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21509527	CNVD
Autism	22543975	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117003200-117010800	Weak transcription	Fetal Intestine Large	intestine
2	chr5:117003600-117010600	Weak transcription	Fetal Intestine Small	intestine
3	chr5:117005800-117006000	Enhancers	Pancreas	Pancrea
4	chr5:117006000-117011600	Weak transcription	Pancreas	Pancrea
5	chr5:117010600-117012400	Enhancers	Fetal Intestine Small	intestine
6	chr5:117010800-117011200	Enhancers	Fetal Intestine Large	intestine
7	chr5:117013600-117014400	Enhancers	Fetal Heart	heart
8	chr5:117014400-117014800	Weak transcription	Fetal Heart	heart
9	chr5:117014600-117019200	Enhancers	HSMMtube	muscle
10	chr5:117014800-117015000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:117014800-117019400	Enhancers	Fetal Heart	heart
12	chr5:117015200-117018200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:117016000-117017600	Enhancers	Fetal Muscle Leg	muscle
14	chr5:117016200-117018800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr5:117016800-117017600	Enhancers	GM12878-XiMat	blood
16	chr5:117017000-117017800	Enhancers	Fetal Kidney	kidney
17	chr5:117017200-117017600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr5:117017200-117017600	Enhancers	Brain Germinal Matrix	brain
19	chr5:117017200-117019600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr5:117017400-117017800	Enhancers	Fetal Stomach	stomach
21	chr5:117017400-117017800	Enhancers	Pancreas	Pancrea
22	chr5:117017400-117017800	Enhancers	NHDF-Ad	bronchial
23	chr5:117017400-117018000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:117017400-117018000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:117017600-117018600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr5:117018000-117018400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:117018400-117019600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:117018600-117019000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr5:117026200-117026400	Flanking Active TSS	HSMMtube	muscle
30	chr5:117026400-117026600	Active TSS	HSMMtube	muscle
31	chr5:117026400-117027000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:117026800-117027600	Enhancers	Adipose Nuclei	Adipose
33	chr5:117028200-117029200	Enhancers	Fetal Intestine Small	intestine
34	chr5:117036200-117036400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:117036200-117037000	Enhancers	Fetal Intestine Small	intestine
36	chr5:117036600-117037000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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