Variant report

Variant	nsv524812
Chromosome Location	chr5:115517238-115584159
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:173)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:173 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:115567073-115567351	HepG2	liver:	n/a	n/a
2	BACH1	chr5:115573174-115573254	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr5:115584119-115584488	MCF-7	breast:	n/a	chr5:115584298-115584309 chr5:115584300-115584311
4	CEBPB	chr5:115584135-115584482	HepG2	liver:	n/a	chr5:115584298-115584309 chr5:115584300-115584311
5	CTCF	chr5:115573700-115573850	GM12875	blood:	n/a	n/a
6	CTCF	chr5:115573740-115573890	SAEC	small airway:	n/a	n/a
7	CTCF	chr5:115573720-115573870	GM12872	blood:	n/a	n/a
8	CTCF	chr5:115573740-115573890	NB4	blood:	n/a	n/a
9	CTCF	chr5:115573700-115573850	HMEC	breast:	n/a	n/a
10	CTCF	chr5:115573740-115573890	AG09309	skin:	n/a	n/a
11	CTCF	chr5:115573740-115573890	AG10803	skin:	n/a	n/a
12	CTCF	chr5:115573680-115573830	SK-N-SH_RA	brain:	n/a	n/a
13	CTCF	chr5:115573680-115573830	GM12871	blood:	n/a	n/a
14	CTCF	chr5:115573700-115573850	AG04449	skin:	n/a	n/a
15	CTCF	chr5:115573695-115573940	IMR90	lung:	n/a	n/a
16	CTCF	chr5:115573740-115573890	GM12869	blood:	n/a	n/a
17	CTCF	chr5:115573780-115573930	HepG2	liver:	n/a	n/a
18	CTCF	chr5:115573720-115573870	GM06990	blood:	n/a	n/a
19	CTCF	chr5:115573739-115573920	GM12878	blood:	n/a	n/a
20	CTCF	chr5:115573660-115573810	GM12868	blood:	n/a	n/a
21	CTCF	chr5:115573740-115573890	MCF-7	breast:	n/a	n/a
22	CTCF	chr5:115573740-115573890	GM12878	blood:	n/a	n/a
23	CTCF	chr5:115573860-115574010	HCM	heart:	n/a	n/a
24	CTCF	chr5:115573760-115573910	GM12873	blood:	n/a	n/a
25	CTCF	chr5:115573660-115573810	AG04450	lung:	n/a	n/a
26	CTCF	chr5:115573700-115573850	HEK293	kidney:	n/a	n/a
27	CTCF	chr5:115573790-115573831	Gliobla	brain:	n/a	n/a
28	CTCF	chr5:115573740-115573890	RPTEC	kidney:	n/a	n/a
29	CTCF	chr5:115573720-115573870	GM12874	blood:	n/a	n/a
30	CTCF	chr5:115573700-115573850	GM12872	blood:	n/a	n/a
31	CTCF	chr5:115573720-115573870	HBMEC	blood vessel:	n/a	n/a
32	CTCF	chr5:115526780-115526930	HepG2	liver:	n/a	n/a
33	CTCF	chr5:115573680-115573830	AG09319	gingival:	n/a	n/a
34	CTCF	chr5:115573760-115573910	HPAF	blood vessel:	n/a	n/a
35	CTCF	chr5:115573800-115573950	GM12867	blood:	n/a	n/a
36	CTCF	chr5:115573720-115573870	HCFaa	heart:	n/a	n/a
37	CTCF	chr5:115573680-115573830	GM12864	blood:	n/a	n/a
38	CTCF	chr5:115573680-115573830	GM12866	blood:	n/a	n/a
39	CTCF	chr5:115573680-115573830	HRPEpiC	eye:	n/a	n/a
40	CTCF	chr5:115573720-115573870	BJ	skin:	n/a	n/a
41	CTCF	chr5:115574160-115574310	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr5:115573760-115573910	MCF-7	breast:	n/a	n/a
43	CTCF	chr5:115573740-115573890	BJ	skin:	n/a	n/a
44	CTCF	chr5:115573720-115573870	AG09319	gingival:	n/a	n/a
45	CTCF	chr5:115573738-115573823	Spleen_OC	spleen:	n/a	n/a
46	CTCF	chr5:115573780-115573930	GM12873	blood:	n/a	n/a
47	CTCF	chr5:115573720-115573870	AoAF	blood vessel:	n/a	n/a
48	CTCF	chr5:115573680-115573830	HVMF	connective:	n/a	n/a
49	CTCF	chr5:115573700-115573850	AoAF	blood vessel:	n/a	n/a
50	CTCF	chr5:115573720-115573870	HRE	kidney:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:115512590..115515778-chr5:115516651..115520258,3	MCF-7	breast:
2	chr5:115523919..115526832-chr5:115553749..115555427,2	MCF-7	breast:
3	chr5:115523919..115526832-chr5:115553749..115555427,2	MCF-7	breast:
4	chr5:115573428..115574084-chr5:115607901..115608709,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LVRN.1-3	chr5:115549572-115550152	NONHSAT103355
2	lnc-SEMA6A-7	chr5:115553723-115553992	NONHSAT103356

No data

Variant related genes	Relation type
HMGN2P27	TF binding region
RNU6-644P	TF binding region
ENSG00000212457	chromatin interactions
ENSG00000232916	chromatin interactions

Extended variants
information (count: 3482 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:3482 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6878530	chr5:115517238-115517239	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs150648938	chr5:115517256-115517257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185022439	chr5:115517257-115517258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111325401	chr5:115517259-115517260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373478002	chr5:115517261-115517262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139685335	chr5:115517287-115517288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188660783	chr5:115517297-115517298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542309481	chr5:115517321-115517322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542987770	chr5:115517340-115517341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149783067	chr5:115517350-115517351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72804869	chr5:115517376-115517377	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs545617824	chr5:115517389-115517390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs398088737	chr5:115517398-115517399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6878871	chr5:115517399-115517400	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs533073298	chr5:115517449-115517450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73257204	chr5:115517485-115517486	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs377428562	chr5:115517500-115517501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566539460	chr5:115517513-115517514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528923240	chr5:115517515-115517516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548961044	chr5:115517527-115517528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6879075	chr5:115517541-115517542	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs115718519	chr5:115517542-115517543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181159374	chr5:115517549-115517550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528729111	chr5:115517558-115517559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74464778	chr5:115517569-115517570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186790270	chr5:115517583-115517584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73257210	chr5:115517640-115517641	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs546771967	chr5:115517716-115517717	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs542699760	chr5:115517720-115517721	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs111509716	chr5:115517728-115517729	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs568278227	chr5:115517738-115517739	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs183968050	chr5:115517750-115517751	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs545691133	chr5:115517755-115517756	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs548442722	chr5:115517769-115517770	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs565558347	chr5:115517811-115517812	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs527924578	chr5:115517824-115517825	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs146877649	chr5:115517849-115517850	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs547205404	chr5:115517852-115517853	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs560037188	chr5:115517865-115517866	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs528936477	chr5:115517866-115517867	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs535192981	chr5:115517878-115517879	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs548711811	chr5:115517881-115517882	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs550212821	chr5:115517893-115517894	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs568799853	chr5:115517907-115517908	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs568767551	chr5:115517933-115517934	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs370148368	chr5:115517935-115517936	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs187234671	chr5:115518003-115518004	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs535380819	chr5:115518015-115518016	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs76852075	chr5:115518017-115518018	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs551289215	chr5:115518035-115518036	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Ependymoma	20639864	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:288 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115471600-115521600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr5:115481400-115536000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr5:115484400-115521400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr5:115489200-115526800	Weak transcription	Pancreas	Pancrea
5	chr5:115489800-115528600	Weak transcription	Ovary	ovary
6	chr5:115490000-115524400	Weak transcription	Left Ventricle	heart
7	chr5:115494600-115522200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:115495200-115521600	Weak transcription	Adipose Nuclei	Adipose
9	chr5:115495200-115524400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:115497400-115528800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:115499200-115527400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr5:115502400-115524400	Weak transcription	Fetal Intestine Large	intestine
13	chr5:115502400-115526400	Weak transcription	Lung	lung
14	chr5:115502800-115521600	Weak transcription	Primary T cells from cord blood	blood
15	chr5:115508200-115518400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:115508400-115517600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:115508800-115529200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr5:115509200-115528400	Weak transcription	A549	lung
19	chr5:115509600-115533400	Weak transcription	HSMM	muscle
20	chr5:115510200-115521400	Weak transcription	Liver	Liver
21	chr5:115510200-115521600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr5:115510200-115522000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr5:115510400-115522000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:115510400-115524600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:115510400-115526200	Weak transcription	Brain Hippocampus Middle	brain
26	chr5:115510400-115526800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:115511800-115533200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:115512000-115529200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:115512200-115521600	Weak transcription	Primary B cells from cord blood	blood
30	chr5:115512200-115526800	Weak transcription	Fetal Intestine Small	intestine
31	chr5:115513000-115518600	Weak transcription	Psoas Muscle	Psoas
32	chr5:115515000-115521600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr5:115517000-115517600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr5:115517000-115519000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr5:115517400-115518400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr5:115517400-115518600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr5:115517400-115526800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr5:115517600-115517800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr5:115517600-115518000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr5:115517600-115518200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr5:115517600-115518600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr5:115517600-115518800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr5:115517800-115518200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr5:115518000-115518600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr5:115518200-115518600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr5:115518200-115521400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr5:115518200-115529000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:115518400-115518800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr5:115518400-115522200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr5:115518400-115524200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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