Variant report

Variant	nsv965527
Chromosome Location	chr5:74181141-74195624
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:98)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:98 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr5:74185356-74185778	GM12878	blood:	n/a	n/a
2	BATF	chr5:74185298-74185833	GM12878	blood:	n/a	n/a
3	BCL11A	chr5:74185389-74185810	GM12878	blood:	n/a	n/a
4	BCL11A	chr5:74185499-74185768	GM12878	blood:	n/a	n/a
5	CEBPB	chr5:74191824-74192241	ECC-1	luminal epithelium:	n/a	n/a
6	CEBPB	chr5:74191683-74192219	ECC-1	luminal epithelium:	n/a	n/a
7	CTCF	chr5:74182978-74183040	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr5:74185380-74185530	HepG2	liver:	n/a	n/a
9	CTCF	chr5:74186680-74186830	GM12870	blood:	n/a	n/a
10	CUX1	chr5:74185546-74185564	GM12878	blood:	n/a	n/a
11	E2F4	chr5:74191901-74192101	MCF10A-Er-Src	breast:	n/a	n/a
12	EBF1	chr5:74185311-74185810	GM12878	blood:	n/a	n/a
13	EP300	chr5:74191508-74192307	ECC-1	luminal epithelium:	n/a	n/a
14	EP300	chr5:74180979-74181519	ECC-1	luminal epithelium:	n/a	chr5:74181048-74181062
15	EP300	chr5:74191613-74192260	ECC-1	luminal epithelium:	n/a	n/a
16	EP300	chr5:74185518-74185858	GM12878	blood:	n/a	n/a
17	EP300	chr5:74185483-74185813	GM12878	blood:	n/a	n/a
18	EP300	chr5:74180951-74181550	ECC-1	luminal epithelium:	n/a	chr5:74181048-74181062
19	ESR1	chr5:74186664-74186927	ECC-1	luminal epithelium:	n/a	n/a
20	FAM48A	chr5:74195363-74195389	GM12878	blood:	n/a	n/a
21	FOS	chr5:74191725-74192110	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr5:74191836-74192100	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr5:74191779-74192122	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr5:74191659-74192196	MCF10A-Er-Src	breast:	n/a	n/a
25	FOXA1	chr5:74183750-74184323	HepG2	liver:	n/a	n/a
26	FOXA1	chr5:74183863-74184255	HepG2	liver:	n/a	n/a
27	FOXA1	chr5:74184897-74185570	HepG2	liver:	n/a	n/a
28	FOXA1	chr5:74184896-74185465	HepG2	liver:	n/a	n/a
29	GATA3	chr5:74191618-74192308	SK-N-SH	brain:	n/a	n/a
30	GATA3	chr5:74191553-74192240	SK-N-SH	brain:	n/a	n/a
31	GATA3	chr5:74191803-74192070	T-47D	breast:	n/a	n/a
32	IKZF1	chr5:74185335-74185800	GM12878	blood:	n/a	n/a
33	IRF3	chr5:74185680-74185699	GM12878	blood:	n/a	n/a
34	IRF4	chr5:74185309-74185782	GM12878	blood:	n/a	n/a
35	IRF4	chr5:74185262-74185783	GM12878	blood:	n/a	n/a
36	MAX	chr5:74192929-74193111	K562	blood:	n/a	n/a
37	MAZ	chr5:74185492-74185583	GM12878	blood:	n/a	n/a
38	MYC	chr5:74191551-74192086	MCF10A-Er-Src	breast:	n/a	chr5:74192057-74192066
39	MYC	chr5:74191709-74192126	MCF10A-Er-Src	breast:	n/a	chr5:74192057-74192066
40	MYC	chr5:74195464-74195647	MCF10A-Er-Src	breast:	n/a	n/a
41	MYC	chr5:74181568-74181577	HUVEC	blood vessel:	n/a	n/a
42	NFIC	chr5:74191475-74192251	SK-N-SH	brain:	n/a	chr5:74191976-74191992
43	NFIC	chr5:74180943-74181588	ECC-1	luminal epithelium:	n/a	n/a
44	NFIC	chr5:74191357-74192316	ECC-1	luminal epithelium:	n/a	chr5:74191976-74191992
45	NFIC	chr5:74180982-74181548	ECC-1	luminal epithelium:	n/a	n/a
46	NFIC	chr5:74191613-74192292	SK-N-SH	brain:	n/a	chr5:74191976-74191992
47	NFIC	chr5:74191446-74192286	ECC-1	luminal epithelium:	n/a	chr5:74191976-74191992
48	NR3C1	chr5:74191713-74192054	ECC-1	luminal epithelium:	n/a	n/a
49	NR3C1	chr5:74181004-74181342	ECC-1	luminal epithelium:	n/a	n/a
50	NR3C1	chr5:74181010-74181273	ECC-1	luminal epithelium:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74185368..74187105-chr5:74187423..74188982,2	MCF-7	breast:
2	chr5:74185368..74187105-chr5:74187423..74188982,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM169A-1	chr5:74195136-74195344	XLOC_004889

No data

Variant related genes	Relation type
ENSG00000212363	TF binding region

Extended variants
information (count: 397 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:397 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79552132	chr5:74181151-74181152	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs116568048	chr5:74181157-74181158	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs192724307	chr5:74181175-74181176	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs375843724	chr5:74181263-74181264	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs570886322	chr5:74181384-74181385	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs370203171	chr5:74181404-74181405	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs536692141	chr5:74181438-74181439	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs78574090	chr5:74181452-74181453	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs376889176	chr5:74181466-74181467	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs369058043	chr5:74181467-74181468	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs146656567	chr5:74181578-74181579	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs115991668	chr5:74181592-74181593	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
13	rs552909147	chr5:74181628-74181629	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs185081764	chr5:74181640-74181641	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs189957432	chr5:74181689-74181690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139068881	chr5:74181703-74181704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182126474	chr5:74181710-74181711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544289502	chr5:74181825-74181826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144166309	chr5:74181855-74181856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533494979	chr5:74181878-74181879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185476206	chr5:74181893-74181894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7719022	chr5:74181935-74181936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs568538848	chr5:74181950-74181951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560295675	chr5:74181980-74181981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189413772	chr5:74181981-74181982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180722937	chr5:74181982-74181983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185116905	chr5:74182010-74182011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530480894	chr5:74182018-74182019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188338210	chr5:74182030-74182031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181240311	chr5:74182040-74182041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535951691	chr5:74182041-74182042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553061397	chr5:74182055-74182056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62367774	chr5:74182080-74182081	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs186704431	chr5:74182092-74182093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558850669	chr5:74182119-74182120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191489180	chr5:74182146-74182147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62367818	chr5:74182192-74182193	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs554679906	chr5:74182213-74182214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574809543	chr5:74182235-74182236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552005499	chr5:74182266-74182267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540343851	chr5:74182273-74182274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183750516	chr5:74182325-74182326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186317989	chr5:74182327-74182328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs202090193	chr5:74182328-74182329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199680256	chr5:74182357-74182358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191060317	chr5:74182358-74182359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562816874	chr5:74182412-74182413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs80154850	chr5:74182481-74182482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553693286	chr5:74182551-74182552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111450145	chr5:74182576-74182577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	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
Hepatocellular carcinoma	16750200	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
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	22355333	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74180000-74181200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:74180000-74185200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:74180000-74185200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:74180000-74185200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:74180200-74181200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr5:74180200-74185200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:74181000-74181600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:74181000-74181600	Enhancers	HepG2	liver
9	chr5:74181200-74181400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr5:74181200-74181400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:74181600-74183400	Weak transcription	HepG2	liver
12	chr5:74183400-74185800	Enhancers	HepG2	liver
13	chr5:74183600-74183800	Enhancers	H9 Cell Line	embryonic stem cell
14	chr5:74184600-74186800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:74185000-74185200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr5:74185200-74185600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr5:74185200-74185600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:74185200-74185600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr5:74185200-74185600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr5:74185200-74185800	Enhancers	GM12878-XiMat	blood
21	chr5:74186200-74186600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:74186200-74186600	Enhancers	Primary T cells fromperipheralblood	blood
23	chr5:74188400-74189200	Enhancers	NHEK	skin
24	chr5:74190400-74191000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:74191000-74191800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:74191200-74193000	Enhancers	Fetal Brain Female	brain
27	chr5:74191400-74191800	Enhancers	Brain Substantia Nigra	brain
28	chr5:74191400-74192200	Enhancers	Fetal Lung	lung
29	chr5:74191400-74192400	Enhancers	Brain Cingulate Gyrus	brain
30	chr5:74191400-74192400	Enhancers	Fetal Heart	heart
31	chr5:74191600-74191800	Enhancers	Brain Anterior Caudate	brain
32	chr5:74191600-74191800	Enhancers	Brain Hippocampus Middle	brain
33	chr5:74191600-74192200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:74191600-74192200	Enhancers	Stomach Smooth Muscle	stomach
35	chr5:74191600-74192400	Enhancers	Liver	Liver
36	chr5:74191600-74192400	Enhancers	Brain Angular Gyrus	brain
37	chr5:74191600-74192400	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr5:74191600-74192400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr5:74191600-74192400	Enhancers	Fetal Brain Male	brain
40	chr5:74191800-74192000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:74191800-74192000	Enhancers	H9 Cell Line	embryonic stem cell
42	chr5:74191800-74192200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:74191800-74192200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:74191800-74192200	Enhancers	Aorta	Aorta
45	chr5:74191800-74192200	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr5:74191800-74192200	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr5:74191800-74192200	Enhancers	Ovary	ovary
48	chr5:74191800-74192200	Enhancers	Pancreas	Pancrea
49	chr5:74191800-74192200	Enhancers	NHEK	skin
50	chr5:74191800-74192400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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