Variant report

Variant	nsv882739
Chromosome Location	chr5:115471015-115552945
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:357)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:357 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:115473442-115473811	K562	blood:	n/a	n/a
2	ATF2	chr5:115470974-115471521	GM12878	blood:	n/a	n/a
3	BCL11A	chr5:115471127-115471339	GM12878	blood:	n/a	n/a
4	BCLAF1	chr5:115470941-115471450	GM12878	blood:	n/a	n/a
5	BHLHE40	chr5:115480730-115480840	GM12878	blood:	n/a	n/a
6	BHLHE40	chr5:115482933-115482935	K562	blood:	n/a	n/a
7	CBX3	chr5:115511708-115512163	HCT-116	colon:	n/a	n/a
8	CBX3	chr5:115509774-115510264	HCT-116	colon:	n/a	n/a
9	CEBPB	chr5:115511551-115511792	K562	blood:	n/a	chr5:115511652-115511663
10	CEBPB	chr5:115511494-115511805	IMR90	lung:	n/a	chr5:115511652-115511663
11	CEBPB	chr5:115488542-115488745	K562	blood:	n/a	chr5:115488664-115488677
12	CEBPB	chr5:115497969-115498167	K562	blood:	n/a	chr5:115498150-115498161
13	CEBPB	chr5:115490011-115490177	HepG2	liver:	n/a	n/a
14	CEBPB	chr5:115497933-115498209	A549	lung:	n/a	chr5:115498150-115498161
15	CEBPB	chr5:115480816-115481060	HepG2	liver:	n/a	chr5:115480956-115480967
16	CEBPB	chr5:115498007-115498261	Hela-S3	cervix:	n/a	chr5:115498150-115498161
17	CEBPB	chr5:115497905-115498301	HepG2	liver:	n/a	chr5:115498150-115498161
18	CEBPB	chr5:115511524-115511726	HepG2	liver:	n/a	chr5:115511652-115511663
19	CTCF	chr5:115478360-115478510	HMEC	breast:	n/a	n/a
20	CTCF	chr5:115473580-115473730	GM06990	blood:	n/a	n/a
21	CTCF	chr5:115473520-115473670	WI-38	lung:	n/a	n/a
22	CTCF	chr5:115473620-115473770	HRE	kidney:	n/a	n/a
23	CTCF	chr5:115473580-115473730	GM12873	blood:	n/a	n/a
24	CTCF	chr5:115473477-115473831	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr5:115478360-115478510	BE2_C	brain:	n/a	n/a
26	CTCF	chr5:115473580-115473730	GM12869	blood:	n/a	n/a
27	CTCF	chr5:115473380-115473530	GM12864	blood:	n/a	n/a
28	CTCF	chr5:115473582-115473761	GM10248	blood:	n/a	n/a
29	CTCF	chr5:115473544-115473809	Pancreas_OC	pancreas:	n/a	n/a
30	CTCF	chr5:115478160-115478310	HVMF	connective:	n/a	n/a
31	CTCF	chr5:115473563-115473775	GM10266	blood:	n/a	n/a
32	CTCF	chr5:115527000-115527150	GM06990	blood:	n/a	n/a
33	CTCF	chr5:115473320-115473470	BE2_C	brain:	n/a	n/a
34	CTCF	chr5:115473590-115473755	GM20000	blood:	n/a	n/a
35	CTCF	chr5:115514460-115514610	BE2_C	brain:	n/a	n/a
36	CTCF	chr5:115471173-115471300	Spleen_OC	spleen:	n/a	n/a
37	CTCF	chr5:115473542-115473816	Spleen_OC	spleen:	n/a	n/a
38	CTCF	chr5:115478260-115478410	HPAF	blood vessel:	n/a	n/a
39	CTCF	chr5:115473383-115473856	HCT-116	colon:	n/a	n/a
40	CTCF	chr5:115473580-115473730	NHDF-neo	bronchial:	n/a	n/a
41	CTCF	chr5:115473560-115473710	HFF-Myc	foreskin:	n/a	n/a
42	CTCF	chr5:115473600-115473750	BE2_C	brain:	n/a	n/a
43	CTCF	chr5:115478242-115478518	IMR90	lung:	n/a	n/a
44	CTCF	chr5:115473600-115473750	HEK293	kidney:	n/a	n/a
45	CTCF	chr5:115473620-115473770	HCM	heart:	n/a	n/a
46	CTCF	chr5:115473562-115473821	A549	lung:	n/a	n/a
47	CTCF	chr5:115473600-115473750	HepG2	liver:	n/a	n/a
48	CTCF	chr5:115473580-115473730	GM12870	blood:	n/a	n/a
49	CTCF	chr5:115473620-115473770	HA-sp	spinal cord:	n/a	n/a
50	CTCF	chr5:115473578-115473775	HepG2	liver:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:115473230..115475072-chr5:115489118..115491844,2	MCF-7	breast:
2	chr5:115473291..115473804-chr5:116283477..116284254,2	MCF-7	breast:
3	chr5:115523919..115526832-chr5:115553749..115555427,2	MCF-7	breast:
4	chr5:115512590..115515778-chr5:115516651..115520258,3	MCF-7	breast:
5	chr5:115473639..115474170-chr5:115607611..115608509,2	MCF-7	breast:
6	chr5:115477963..115480064-chr5:115480486..115482717,2	K562	blood:
7	chr5:115473058..115473763-chr5:115624723..115625238,2	MCF-7	breast:
8	chr5:115512590..115515778-chr5:115516651..115520258,3	MCF-7	breast:
9	chr5:115473230..115475072-chr5:115489118..115491844,2	MCF-7	breast:
10	chr5:115467424..115470198-chr5:115480020..115482745,2	K562	blood:
11	chr5:115477963..115480064-chr5:115480486..115482717,2	K562	blood:

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

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

No data

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

Extended variants
information (count: 4401 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:4401 , 50 per page) page: 1 2 3 4 5 6 7 ... 89

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17138924	chr5:115471015-115471016	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs72804829	chr5:115471026-115471027	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs537016954	chr5:115471031-115471032	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs533790319	chr5:115471061-115471062	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs371448436	chr5:115471069-115471070	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs184479517	chr5:115471166-115471167	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs578231424	chr5:115471174-115471175	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs553878779	chr5:115471184-115471185	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs73253214	chr5:115471214-115471215	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs559200269	chr5:115471233-115471234	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs528164708	chr5:115471243-115471244	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs558601042	chr5:115471269-115471270	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs146883631	chr5:115471270-115471271	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs542832999	chr5:115471275-115471276	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs550509731	chr5:115471279-115471280	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs7715759	chr5:115471298-115471299	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs576169206	chr5:115471308-115471309	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs534546849	chr5:115471351-115471352	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs72804830	chr5:115471373-115471374	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs140657082	chr5:115471375-115471376	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs566853441	chr5:115471384-115471385	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs535902470	chr5:115471395-115471396	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs7736189	chr5:115471425-115471426	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs569317443	chr5:115471445-115471446	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs143779904	chr5:115471461-115471462	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs373234730	chr5:115471462-115471463	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs560205152	chr5:115471477-115471478	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs76039155	chr5:115471498-115471499	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs534152869	chr5:115471519-115471520	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs74594083	chr5:115471525-115471526	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs572864000	chr5:115471530-115471531	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs541951777	chr5:115471537-115471538	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs561444443	chr5:115471539-115471540	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs188193222	chr5:115471566-115471567	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs10055868	chr5:115471612-115471613	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs564057370	chr5:115471624-115471625	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6876214	chr5:115471626-115471627	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs376377524	chr5:115471668-115471669	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112579597	chr5:115471681-115471682	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565450819	chr5:115471689-115471690	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560335080	chr5:115471702-115471703	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140754957	chr5:115471712-115471713	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549480956	chr5:115471784-115471785	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191932486	chr5:115471791-115471792	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538256758	chr5:115471797-115471798	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150114431	chr5:115471806-115471807	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571975558	chr5:115471829-115471830	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534467585	chr5:115471830-115471831	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10078121	chr5:115471838-115471839	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs574222725	chr5:115471870-115471871	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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	18451855	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:433 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115450000-115473400	Weak transcription	Fetal Lung	lung
2	chr5:115451000-115473200	Weak transcription	Ovary	ovary
3	chr5:115451000-115481200	Weak transcription	Left Ventricle	heart
4	chr5:115455600-115471400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr5:115460800-115471200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:115461600-115474000	Weak transcription	Placenta	Placenta
7	chr5:115462600-115502000	Weak transcription	Fetal Intestine Large	intestine
8	chr5:115466000-115471600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:115466000-115473600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr5:115466200-115479600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:115466400-115479400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:115466400-115479400	Weak transcription	NHEK	skin
13	chr5:115466400-115479600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:115466400-115479800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:115466400-115479800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:115466600-115479600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:115466600-115479600	Weak transcription	HSMM	muscle
18	chr5:115468000-115473800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr5:115468200-115494400	Weak transcription	Primary T cells from cord blood	blood
20	chr5:115468400-115479000	Weak transcription	Adipose Nuclei	Adipose
21	chr5:115468600-115501400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr5:115469200-115474000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr5:115469200-115481400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:115469400-115471600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr5:115469400-115473400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr5:115469400-115473400	Weak transcription	Brain Substantia Nigra	brain
27	chr5:115469600-115472000	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:115469800-115472600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr5:115469800-115473400	Weak transcription	Fetal Kidney	kidney
30	chr5:115469800-115474200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr5:115470200-115471600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr5:115470600-115471600	Enhancers	Dnd41	blood
33	chr5:115470600-115472000	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr5:115470600-115474200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:115470600-115487400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr5:115470800-115471400	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr5:115470800-115471600	Enhancers	Primary B cells from cord blood	blood
38	chr5:115470800-115472200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr5:115470800-115473000	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr5:115471000-115471200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr5:115471000-115471200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:115471000-115471200	Enhancers	GM12878-XiMat	blood
43	chr5:115471000-115471600	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr5:115471000-115471600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr5:115471000-115471600	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr5:115471000-115472400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr5:115471000-115473800	Weak transcription	HUVEC	blood vessel
48	chr5:115471200-115471400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr5:115471200-115471400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr5:115471200-115471600	Enhancers	Primary hematopoietic stem cells	blood

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