Variant report

Variant	nsv882741
Chromosome Location	chr5:115484252-115552945
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	CBX3	chr5:115509774-115510264	HCT-116	colon:	n/a	n/a
2	CBX3	chr5:115511708-115512163	HCT-116	colon:	n/a	n/a
3	CEBPB	chr5:115511524-115511726	HepG2	liver:	n/a	chr5:115511652-115511663
4	CEBPB	chr5:115490011-115490177	HepG2	liver:	n/a	n/a
5	CEBPB	chr5:115511551-115511792	K562	blood:	n/a	chr5:115511652-115511663
6	CEBPB	chr5:115498007-115498261	Hela-S3	cervix:	n/a	chr5:115498150-115498161
7	CEBPB	chr5:115497933-115498209	A549	lung:	n/a	chr5:115498150-115498161
8	CEBPB	chr5:115497905-115498301	HepG2	liver:	n/a	chr5:115498150-115498161
9	CEBPB	chr5:115511494-115511805	IMR90	lung:	n/a	chr5:115511652-115511663
10	CEBPB	chr5:115497969-115498167	K562	blood:	n/a	chr5:115498150-115498161
11	CEBPB	chr5:115488542-115488745	K562	blood:	n/a	chr5:115488664-115488677
12	CTCF	chr5:115545600-115545750	HCPEpiC	choroid plexus:	n/a	n/a
13	CTCF	chr5:115490120-115490270	MCF-7	breast:	n/a	n/a
14	CTCF	chr5:115495000-115495150	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr5:115514460-115514610	BE2_C	brain:	n/a	n/a
16	CTCF	chr5:115546959-115547004	Spleen_OC	spleen:	n/a	n/a
17	CTCF	chr5:115499018-115499081	Fibrobl	skin:	n/a	n/a
18	CTCF	chr5:115505914-115505969	LNCaP	prostate:	n/a	n/a
19	CTCF	chr5:115514420-115514570	HCPEpiC	choroid plexus:	n/a	n/a
20	CTCF	chr5:115527000-115527150	GM06990	blood:	n/a	n/a
21	CTCF	chr5:115526780-115526930	HepG2	liver:	n/a	n/a
22	CUX1	chr5:115488845-115488892	GM12878	blood:	n/a	n/a
23	FOS	chr5:115511876-115512190	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr5:115511882-115512082	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr5:115511949-115512080	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr5:115511871-115512146	MCF10A-Er-Src	breast:	n/a	n/a
27	FOXA1	chr5:115490663-115490990	HepG2	liver:	n/a	chr5:115490811-115490826
28	FOXA1	chr5:115490652-115491022	HepG2	liver:	n/a	chr5:115490811-115490826
29	FOXA1	chr5:115546868-115547069	T-47D	breast:	n/a	n/a
30	FOXA1	chr5:115490693-115490906	HepG2	liver:	n/a	chr5:115490811-115490826
31	FOXA1	chr5:115490043-115490196	T-47D	breast:	n/a	n/a
32	FOXA1	chr5:115489965-115490352	HepG2	liver:	n/a	n/a
33	FOXA1	chr5:115490653-115491008	HepG2	liver:	n/a	chr5:115490811-115490826
34	FOXA2	chr5:115546874-115547055	HepG2	liver:	n/a	n/a
35	FOXA2	chr5:115490054-115490269	HepG2	liver:	n/a	n/a
36	FOXA2	chr5:115490731-115490893	HepG2	liver:	n/a	n/a
37	GABPA	chr5:115493849-115493999	GM12878	blood:	n/a	n/a
38	GABPA	chr5:115493837-115493993	GM12878	blood:	n/a	n/a
39	GABPA	chr5:115493871-115493987	Hela-S3	cervix:	n/a	n/a
40	GATA2	chr5:115496861-115497155	SH-SY5Y	brain:	n/a	n/a
41	GATA3	chr5:115532827-115533270	SK-N-SH	brain:	n/a	n/a
42	GATA3	chr5:115532809-115533271	MCF-7	breast:	n/a	n/a
43	GATA3	chr5:115540807-115540886	SH-SY5Y	brain:	n/a	n/a
44	GATA3	chr5:115496759-115497061	SH-SY5Y	brain:	n/a	n/a
45	GATA3	chr5:115532851-115533266	SK-N-SH	brain:	n/a	n/a
46	GTF2F1	chr5:115527179-115527209	H1-hESC	embryonic stem cell:	n/a	n/a
47	JUN	chr5:115541691-115541827	HepG2	liver:	n/a	chr5:115541725-115541738
48	JUND	chr5:115493860-115494013	HepG2	liver:	n/a	n/a
49	KAP1	chr5:115544780-115545020	K562	blood:	n/a	n/a
50	KAP1	chr5:115489477-115489980	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:115523919..115526832-chr5:115553749..115555427,2	MCF-7	breast:
2	chr5:115512590..115515778-chr5:115516651..115520258,3	MCF-7	breast:
3	chr5:115512590..115515778-chr5:115516651..115520258,3	MCF-7	breast:
4	chr5:115473230..115475072-chr5:115489118..115491844,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LVRN.1-3	chr5:115549572-115550152	NONHSAT103355

Variant related genes	Relation type
RNU6-644P	TF binding region
ENSG00000232916	chromatin interactions

Extended variants
information (count: 3717 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:3717 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11957382	chr5:115484252-115484253	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs528262849	chr5:115484264-115484265	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs548672146	chr5:115484284-115484285	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs568414596	chr5:115484288-115484289	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs535081454	chr5:115484310-115484311	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs183539994	chr5:115484344-115484345	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs551113658	chr5:115484450-115484451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62385178	chr5:115484454-115484455	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs188315729	chr5:115484455-115484456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574866505	chr5:115484499-115484500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117889184	chr5:115484519-115484520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73253273	chr5:115484529-115484530	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs535630811	chr5:115484533-115484534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554650344	chr5:115484564-115484565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112450834	chr5:115484577-115484578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543491816	chr5:115484584-115484585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556569011	chr5:115484594-115484595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576428974	chr5:115484596-115484597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531821178	chr5:115484597-115484598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545733817	chr5:115484598-115484599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550337342	chr5:115484628-115484629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77782586	chr5:115484629-115484630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77553513	chr5:115484636-115484637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76869888	chr5:115484658-115484659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145241756	chr5:115484663-115484664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192497154	chr5:115484680-115484681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79027922	chr5:115484697-115484698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530940837	chr5:115484705-115484706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75838072	chr5:115484714-115484715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74505330	chr5:115484718-115484719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77878558	chr5:115484720-115484721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4345911	chr5:115484721-115484722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77861787	chr5:115484723-115484724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532221831	chr5:115484744-115484745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149153759	chr5:115484756-115484757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62385179	chr5:115484766-115484767	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs186822389	chr5:115484769-115484770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113729125	chr5:115484791-115484792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191234344	chr5:115484798-115484799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71322920	chr5:115484815-115484816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200169744	chr5:115484822-115484823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7719976	chr5:115484845-115484846	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
43	rs555721139	chr5:115484859-115484860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367899860	chr5:115484888-115484889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7720507	chr5:115484902-115484903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536794454	chr5:115484912-115484913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28791018	chr5:115484951-115484952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs7702591	chr5:115484975-115484976	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
49	rs10477551	chr5:115485001-115485002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576441199	chr5:115485002-115485003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Sezary syndrome	18413736	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Ependymoma	20639864	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115462600-115502000	Weak transcription	Fetal Intestine Large	intestine
2	chr5:115468200-115494400	Weak transcription	Primary T cells from cord blood	blood
3	chr5:115468600-115501400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:115470600-115487400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr5:115471600-115521600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr5:115472800-115500200	Weak transcription	Primary B cells from cord blood	blood
7	chr5:115472800-115500400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr5:115473600-115494800	Weak transcription	Fetal Kidney	kidney
9	chr5:115473600-115495200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr5:115481200-115488000	Weak transcription	Fetal Heart	heart
11	chr5:115481400-115536000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr5:115484000-115484400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
13	chr5:115484400-115510000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:115484400-115521400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr5:115488000-115489800	Enhancers	Fetal Heart	heart
16	chr5:115488400-115501200	Weak transcription	Psoas Muscle	Psoas
17	chr5:115489000-115489200	Enhancers	Pancreas	Pancrea
18	chr5:115489000-115489800	Enhancers	Ovary	ovary
19	chr5:115489000-115489800	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr5:115489000-115490000	Enhancers	Left Ventricle	heart
21	chr5:115489200-115489400	Enhancers	Colon Smooth Muscle	Colon
22	chr5:115489200-115490800	Enhancers	HepG2	liver
23	chr5:115489200-115491000	Enhancers	Liver	Liver
24	chr5:115489200-115526800	Weak transcription	Pancreas	Pancrea
25	chr5:115489800-115494600	Weak transcription	Fetal Heart	heart
26	chr5:115489800-115528600	Weak transcription	Ovary	ovary
27	chr5:115490000-115491000	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr5:115490000-115524400	Weak transcription	Left Ventricle	heart
29	chr5:115491600-115492400	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr5:115492800-115504200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr5:115493000-115493400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr5:115493400-115493600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr5:115493400-115494600	Active TSS	H1 Cell Line	embryonic stem cell
34	chr5:115493600-115494600	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr5:115493800-115494400	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr5:115494000-115504400	Weak transcription	Aorta	Aorta
37	chr5:115494400-115495200	Strong transcription	Primary T cells from cord blood	blood
38	chr5:115494600-115495200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr5:115494600-115495200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr5:115494600-115495200	Enhancers	Adipose Nuclei	Adipose
41	chr5:115494600-115495400	Enhancers	Fetal Heart	heart
42	chr5:115494600-115522200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr5:115494800-115495200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr5:115494800-115495400	Enhancers	Fetal Kidney	kidney
45	chr5:115494800-115495400	Enhancers	GM12878-XiMat	blood
46	chr5:115494800-115495800	Enhancers	Brain Substantia Nigra	brain
47	chr5:115495000-115495200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr5:115495000-115495400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr5:115495000-115495400	Enhancers	Gastric	stomach
50	chr5:115495000-115495400	Enhancers	Spleen	Spleen

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