Variant report

Variant	nsv969305
Chromosome Location	chr6:57251382-57254875
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr6:57254076-57254287	GM12878	blood:	n/a	chr6:57254189-57254200
2	CBX3	chr6:57253942-57254357	HCT-116	colon:	n/a	n/a
3	CTCF	chr6:57252680-57252830	HAc	cerebellar:	n/a	n/a
4	E2F4	chr6:57251672-57251943	MCF10A-Er-Src	breast:	n/a	n/a
5	FAM48A	chr6:57253360-57253504	GM12878	blood:	n/a	n/a
6	FOS	chr6:57254027-57254359	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr6:57254027-57254391	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr6:57254023-57254374	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr6:57254027-57254370	MCF10A-Er-Src	breast:	n/a	n/a
10	FOSL1	chr6:57253930-57254377	HCT-116	colon:	n/a	n/a
11	GATA3	chr6:57252992-57253276	SH-SY5Y	brain:	n/a	n/a
12	IRF1	chr6:57254029-57254398	K562	blood:	n/a	chr6:57254215-57254228 chr6:57254216-57254226 chr6:57254216-57254230
13	IRF1	chr6:57252011-57252076	K562	blood:	n/a	n/a
14	JUN	chr6:57254068-57254341	HepG2	liver:	n/a	n/a
15	JUND	chr6:57254028-57254454	HCT-116	colon:	n/a	chr6:57254383-57254395 chr6:57254191-57254202
16	JUND	chr6:57254204-57254302	H1-hESC	embryonic stem cell:	n/a	n/a
17	JUND	chr6:57254057-57254351	HepG2	liver:	n/a	chr6:57254191-57254202
18	JUND	chr6:57254091-57254297	K562	blood:	n/a	chr6:57254191-57254202
19	MAFF	chr6:57252417-57252617	HepG2	liver:	n/a	n/a
20	MAFK	chr6:57254389-57254614	HepG2	liver:	n/a	chr6:57254491-57254511
21	MAFK	chr6:57252008-57252096	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAFK	chr6:57254403-57254614	IMR90	lung:	n/a	chr6:57254491-57254511
23	MAFK	chr6:57254336-57254621	HepG2	liver:	n/a	chr6:57254491-57254511
24	MAFK	chr6:57252393-57252625	HepG2	liver:	n/a	n/a
25	MAFK	chr6:57252387-57252663	HepG2	liver:	n/a	n/a
26	POLR2A	chr6:57252658-57252858	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr6:57254758-57254893	Gliobla	brain:	n/a	n/a
28	PRDM1	chr6:57254095-57254360	Hela-S3	cervix:	n/a	chr6:57254212-57254227 chr6:57254214-57254227 chr6:57254213-57254227
29	RCOR1	chr6:57251893-57251903	GM12878	blood:	n/a	n/a
30	RFX5	chr6:57254307-57254361	HepG2	liver:	n/a	chr6:57254333-57254348
31	SPI1	chr6:57254716-57254948	GM12891	blood:	n/a	chr6:57254833-57254842
32	STAT3	chr6:57254186-57254292	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr6:57254193-57254360	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr6:57251989-57252106	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:57253598-57253648	H1-hESC	embryonic stem cell:	embryo
2	chr6:57253598-57253648	SKMC	muscle:	n/a
3	chr6:57253598-57253648	AoSMC	blood vessel:	n/a
4	chr6:57253598-57253648	NH-A	brain:	n/a
5	chr6:57253598-57253648	GM12891	blood:	n/a
6	chr6:57253598-57253648	GM19239	blood:	n/a
7	chr6:57253598-57253648	HRCEpiC	kidney:	n/a
8	chr6:57253598-57253648	GM06990	blood:	n/a
9	chr6:57253598-57253648	HUVEC	blood vessel:	n/a
10	chr6:57253598-57253648	HEK293	kidney:	embryo
11	chr6:57253598-57253648	HPAEpiC	pulmonary alveolar:	n/a
12	chr6:57253598-57253648	RPTEC	kidney:	n/a
13	chr6:57253598-57253648	HMEC	breast:	n/a
14	chr6:57253598-57253648	ovcar-3	ovarian:	n/a
15	chr6:57253598-57253648	AG04450	lung:	fetal
16	chr6:57253598-57253648	NHDF-neo	bronchial:	n/a
17	chr6:57253598-57253648	SK-N-MC	brain:	n/a
18	chr6:57253598-57253648	K562	blood:	n/a
19	chr6:57253598-57253648	BE2_C	brain:	n/a
20	chr6:57253598-57253648	SK-N-SH_RA	brain:	n/a
21	chr6:57253598-57253648	GM12878	blood:	n/a
22	chr6:57253598-57253648	Jurkat	blood:	n/a
23	chr6:57253598-57253648	NT2-D1	testis:	n/a
24	chr6:57253598-57253648	U87	brain:	n/a
25	chr6:57253598-57253648	CMK	blood:	n/a
26	chr6:57253598-57253648	LNCaP	prostate:	n/a
27	chr6:57253598-57253648	HL-60	blood:	n/a
28	chr6:57253598-57253648	ProgFib	skin:	n/a
29	chr6:57253598-57253648	GM12892	blood:	n/a
30	chr6:57253598-57253648	MCF10A-Er-Src	breast:	n/a
31	chr6:57253598-57253648	NHBE	bronchial:	n/a
32	chr6:57253598-57253648	HNPCEpiC	eye:	n/a
33	chr6:57253598-57253648	HCM	heart:	n/a
34	chr6:57253598-57253648	HRE	kidney:	n/a
35	chr6:57253598-57253648	BJ	skin:	n/a
36	chr6:57253598-57253648	SK-N-SH	brain:	n/a
37	chr6:57253598-57253648	NB4	blood:	n/a
38	chr6:57253598-57253648	Caco-2	colon:	n/a
39	chr6:57253598-57253648	PFSK-1	brain:	n/a
40	chr6:57253598-57253648	IMR90	lung:	fetal
41	chr6:57253598-57253648	SAEC	small airway:	n/a
42	chr6:57253598-57253648	AG04449	skin:	fetal
43	chr6:57253598-57253648	Hepatocyte	liver:	n/a
44	chr6:57253598-57253648	HCPEpiC	choroid plexus:	n/a
45	chr6:57253598-57253648	HIPEpiC	eye:	n/a
46	chr6:57253598-57253648	Hela-S3	cervix:	n/a
47	chr6:57253598-57253648	HCF	heart:	n/a
48	chr6:57253598-57253648	AG09319	gingival:	n/a
49	chr6:57253598-57253648	PrEC	prostate:	n/a
50	chr6:57253598-57253648	HEEpiC	esophagus:	n/a

No data

Variant related genes	Relation type
MIR548U	TF binding region
MIR548U	CpG island

Extended variants
information (count: 149 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372742692	chr6:57251408-57251409	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs386701503	chr6:57251432-57251433	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7739060	chr6:57251433-57251434	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535775359	chr6:57251445-57251446	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557169532	chr6:57251485-57251486	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139947886	chr6:57251499-57251500	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376690072	chr6:57251512-57251513	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368848359	chr6:57251573-57251574	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539907922	chr6:57251648-57251649	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555146677	chr6:57251664-57251665	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs740929	chr6:57251711-57251712	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs376384856	chr6:57251722-57251723	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs112083716	chr6:57251726-57251727	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs540265359	chr6:57251736-57251737	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs740928	chr6:57251767-57251768	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs574237903	chr6:57251789-57251790	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs740927	chr6:57251791-57251792	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs740926	chr6:57251795-57251796	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs6149603	chr6:57251869-57251870	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs33973471	chr6:57251870-57251871	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs5876552	chr6:57251882-57251883	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs544534745	chr6:57251899-57251900	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs60461718	chr6:57251917-57251918	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs113176686	chr6:57251922-57251923	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs533357075	chr6:57251941-57251942	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs369397038	chr6:57251946-57251947	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551806927	chr6:57251952-57251953	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574720091	chr6:57251953-57251954	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2397250	chr6:57252017-57252018	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs2397251	chr6:57252039-57252040	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs528227756	chr6:57252050-57252051	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs111475795	chr6:57252054-57252055	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs371135728	chr6:57252119-57252120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568076012	chr6:57252146-57252147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535717662	chr6:57252200-57252201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs749436	chr6:57252236-57252237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550908960	chr6:57252343-57252344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569032939	chr6:57252377-57252378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs740925	chr6:57252402-57252403	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs539649506	chr6:57252405-57252406	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs740924	chr6:57252438-57252439	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs558031320	chr6:57252442-57252443	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs573247940	chr6:57252460-57252461	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs534338527	chr6:57252486-57252487	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs564499183	chr6:57252489-57252490	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs370979347	chr6:57252492-57252493	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs142783340	chr6:57252518-57252519	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs555457807	chr6:57252530-57252531	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs368838804	chr6:57252614-57252615	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs183940367	chr6:57252645-57252646	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57238400-57261000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr6:57241200-57254800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:57241200-57262600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:57242800-57259800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:57243200-57254200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:57243600-57251400	Weak transcription	Small Intestine	intestine
7	chr6:57243600-57254800	Weak transcription	NH-A	brain
8	chr6:57244400-57259200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:57244800-57252200	Strong transcription	Dnd41	blood
10	chr6:57245200-57251400	Weak transcription	Gastric	stomach
11	chr6:57245200-57257000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:57245400-57253200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:57245400-57253600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:57245400-57254600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr6:57245600-57253600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr6:57245600-57254800	Weak transcription	Adipose Nuclei	Adipose
17	chr6:57245600-57256200	Weak transcription	Fetal Intestine Large	intestine
18	chr6:57245600-57261200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:57245800-57253200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:57245800-57254000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr6:57245800-57254800	Weak transcription	Fetal Thymus	thymus
22	chr6:57245800-57256000	Weak transcription	Fetal Brain Male	brain
23	chr6:57246000-57251600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr6:57246000-57252600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr6:57246000-57253600	Weak transcription	GM12878-XiMat	blood
26	chr6:57246000-57254000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:57246000-57255200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr6:57246000-57255400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:57246000-57255400	Weak transcription	Fetal Kidney	kidney
30	chr6:57247000-57254000	Weak transcription	NHLF	lung
31	chr6:57247000-57261200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:57247600-57255200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr6:57247600-57258000	Weak transcription	Primary B cells from cord blood	blood
34	chr6:57247600-57259800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:57248000-57258200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr6:57248200-57252000	Weak transcription	Hela-S3	cervix
37	chr6:57248200-57252400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr6:57249000-57257600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:57249200-57254200	Weak transcription	Osteobl	bone
40	chr6:57249200-57254800	Weak transcription	Aorta	Aorta
41	chr6:57249200-57261800	Weak transcription	HSMM	muscle
42	chr6:57249400-57253600	Weak transcription	Ovary	ovary
43	chr6:57249400-57256000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr6:57249600-57252800	Weak transcription	Primary T cells from cord blood	blood
45	chr6:57249600-57252800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:57249600-57252800	Weak transcription	NHDF-Ad	bronchial
47	chr6:57249600-57254800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:57249600-57254800	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr6:57249600-57255200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:57250800-57259000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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