Variant report

Variant	esv3486435
Chromosome Location	chr3:67561062-67564760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:67562442-67562722	HepG2	liver:	n/a	chr3:67562585-67562596
2	CEBPB	chr3:67562483-67562669	A549	lung:	n/a	chr3:67562585-67562596
3	EBF1	chr3:67561672-67561992	GM12878	blood:	n/a	n/a
4	EBF1	chr3:67561712-67561916	GM12878	blood:	n/a	n/a
5	MAFF	chr3:67563776-67563811	HepG2	liver:	n/a	n/a
6	MAFK	chr3:67564432-67564626	HepG2	liver:	n/a	chr3:67564574-67564589
7	MAFK	chr3:67564483-67564692	HepG2	liver:	n/a	chr3:67564574-67564589
8	MAZ	chr3:67563076-67563205	HepG2	liver:	n/a	n/a
9	POLR2A	chr3:67563738-67563796	HepG2	liver:	n/a	n/a
10	POLR2A	chr3:67564691-67564837	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr3:67564444-67564448	MCF-7	breast:	n/a	n/a
12	POLR2A	chr3:67561465-67561609	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr3:67564361-67564431	MCF-7	breast:	n/a	n/a
14	REST	chr3:67561493-67561633	H1-hESC	embryonic stem cell:	n/a	n/a
15	RXRA	chr3:67561482-67561635	HepG2	liver:	n/a	n/a
16	STAT3	chr3:67562558-67562659	MCF10A-Er-Src	breast:	n/a	n/a
17	ZNF143	chr3:67563797-67563873	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:67564432-67564482	RPTEC	kidney:	n/a
2	chr3:67564432-67564482	AG09309	skin:	n/a
3	chr3:67564432-67564482	NT2-D1	testis:	n/a
4	chr3:67564432-67564482	SK-N-SH_RA	brain:	n/a
5	chr3:67564432-67564482	Caco-2	colon:	n/a
6	chr3:67564432-67564482	SK-N-SH	brain:	n/a
7	chr3:67564432-67564482	PANC-1	pancreas:	n/a
8	chr3:67564432-67564482	K562	blood:	n/a
9	chr3:67564432-67564482	Hela-S3	cervix:	n/a
10	chr3:67564432-67564482	HL-60	blood:	n/a
11	chr3:67564432-67564482	AoSMC	blood vessel:	n/a
12	chr3:67564432-67564482	HEEpiC	esophagus:	n/a
13	chr3:67564432-67564482	T-47D	breast:	n/a
14	chr3:67564432-67564482	GM12891	blood:	n/a
15	chr3:67564432-67564482	AG09319	gingival:	n/a
16	chr3:67564432-67564482	GM19239	blood:	n/a
17	chr3:67564432-67564482	ProgFib	skin:	n/a
18	chr3:67564432-67564482	HCPEpiC	choroid plexus:	n/a
19	chr3:67564432-67564482	HEK293	kidney:	embryo
20	chr3:67564432-67564482	HRPEpiC	eye:	n/a
21	chr3:67564432-67564482	ovcar-3	ovarian:	n/a
22	chr3:67564432-67564482	A549	lung:	n/a
23	chr3:67564432-67564482	AG04450	lung:	fetal
24	chr3:67564432-67564482	SK-N-MC	brain:	n/a
25	chr3:67564432-67564482	BE2_C	brain:	n/a
26	chr3:67564432-67564482	HRCEpiC	kidney:	n/a
27	chr3:67564432-67564482	LNCaP	prostate:	n/a
28	chr3:67564432-67564482	BJ	skin:	n/a
29	chr3:67564432-67564482	HUVEC	blood vessel:	n/a
30	chr3:67564432-67564482	MCF10A-Er-Src	breast:	n/a
31	chr3:67564432-67564482	SKMC	muscle:	n/a
32	chr3:67564432-67564482	HepG2	liver:	n/a
33	chr3:67564432-67564482	HCF	heart:	n/a
34	chr3:67564432-67564482	NHBE	bronchial:	n/a
35	chr3:67564432-67564482	IMR90	lung:	fetal
36	chr3:67564432-67564482	HIPEpiC	eye:	n/a
37	chr3:67564432-67564482	GM06990	blood:	n/a
38	chr3:67564432-67564482	AG10803	skin:	n/a
39	chr3:67564432-67564482	NH-A	brain:	n/a
40	chr3:67564432-67564482	ECC-1	luminal epithelium:	n/a
41	chr3:67564432-67564482	PFSK-1	brain:	n/a
42	chr3:67564432-67564482	Jurkat	blood:	n/a
43	chr3:67564432-67564482	SAEC	small airway:	n/a
44	chr3:67564432-67564482	AG04449	skin:	fetal
45	chr3:67564432-67564482	NHDF-neo	bronchial:	n/a
46	chr3:67564432-67564482	Hepatocyte	liver:	n/a
47	chr3:67564432-67564482	GM12892	blood:	n/a
48	chr3:67564432-67564482	H1-hESC	embryonic stem cell:	embryo
49	chr3:67564432-67564482	GM12878	blood:	n/a
50	chr3:67564432-67564482	HMEC	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:85456347..85458098-chr3:67558875..67561641,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM19A1-4	chr3:67564364-67564744	NONHSAT090318

No data

Variant related genes	Relation type
NDUFB4P1	TF binding region
NDUFB4P1	CpG island

Extended variants
information (count: 149 )
Associated
traits (count: 82 )

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	rs575854930	chr3:67561104-67561105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530448827	chr3:67561125-67561126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550619934	chr3:67561143-67561144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140858681	chr3:67561154-67561155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546244127	chr3:67561224-67561225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530337011	chr3:67561244-67561245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546843319	chr3:67561262-67561263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369067461	chr3:67561314-67561315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369542916	chr3:67561324-67561325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150143053	chr3:67561376-67561377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538812211	chr3:67561396-67561397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201090490	chr3:67561461-67561462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552420462	chr3:67561472-67561473	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs569332948	chr3:67561504-67561505	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs147835510	chr3:67561513-67561514	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs189773220	chr3:67561515-67561516	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs574840819	chr3:67561543-67561544	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs141333866	chr3:67561553-67561554	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs370061947	chr3:67561574-67561575	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs553271450	chr3:67561626-67561627	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs147070177	chr3:67561667-67561668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545164345	chr3:67561677-67561678	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs564875617	chr3:67561729-67561730	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs575286641	chr3:67561748-67561749	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs543929243	chr3:67561749-67561750	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs138381345	chr3:67561774-67561775	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs113961052	chr3:67561853-67561854	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs546903008	chr3:67561889-67561890	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs542344467	chr3:67561916-67561917	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs181361587	chr3:67561918-67561919	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs532615635	chr3:67562018-67562019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559046065	chr3:67562026-67562027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528043957	chr3:67562040-67562041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184458760	chr3:67562069-67562070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538342192	chr3:67562078-67562079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548368046	chr3:67562085-67562086	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377516528	chr3:67562089-67562090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568483314	chr3:67562090-67562091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189332399	chr3:67562147-67562148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553330499	chr3:67562169-67562170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143854421	chr3:67562171-67562172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143212102	chr3:67562184-67562185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376767282	chr3:67562188-67562189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181796924	chr3:67562194-67562195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575298213	chr3:67562213-67562214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544316232	chr3:67562257-67562258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560614008	chr3:67562266-67562267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186444940	chr3:67562267-67562268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4856788	chr3:67562278-67562279	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs79246829	chr3:67562279-67562280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67488400-67566400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr3:67500800-67567000	Weak transcription	Pancreas	Pancrea
3	chr3:67508200-67577600	Weak transcription	Spleen	Spleen
4	chr3:67511800-67565000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr3:67513200-67564800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:67513400-67567800	Weak transcription	NHLF	lung
7	chr3:67521600-67580400	Weak transcription	Stomach Mucosa	stomach
8	chr3:67524200-67567000	Weak transcription	Placenta	Placenta
9	chr3:67526800-67583200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:67528200-67564400	Weak transcription	Fetal Lung	lung
11	chr3:67528200-67564800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr3:67531400-67576200	Weak transcription	HMEC	breast
13	chr3:67533200-67577000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr3:67533400-67577600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:67534400-67576400	Weak transcription	Aorta	Aorta
16	chr3:67534600-67566200	Weak transcription	Gastric	stomach
17	chr3:67534800-67566200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:67535000-67578800	Weak transcription	Brain Hippocampus Middle	brain
19	chr3:67537400-67579600	Weak transcription	Small Intestine	intestine
20	chr3:67537600-67566800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr3:67540800-67564400	Weak transcription	Fetal Kidney	kidney
22	chr3:67541400-67582000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr3:67542400-67564800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr3:67542400-67566400	Weak transcription	NH-A	brain
25	chr3:67543200-67566000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr3:67544200-67580200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr3:67544400-67567200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr3:67544800-67577600	Weak transcription	Thymus	Thymus
29	chr3:67545400-67564400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr3:67546400-67565000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:67546600-67563800	Weak transcription	Dnd41	blood
32	chr3:67546600-67564000	Weak transcription	HSMM	muscle
33	chr3:67546600-67564600	Weak transcription	A549	lung
34	chr3:67546600-67564800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr3:67546600-67566400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr3:67546800-67565000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:67547000-67564200	Weak transcription	Colonic Mucosa	Colon
38	chr3:67552000-67566800	Weak transcription	HepG2	liver
39	chr3:67552200-67566200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:67553800-67579600	Weak transcription	Hela-S3	cervix
41	chr3:67554600-67565000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:67554600-67577800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr3:67555200-67563600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr3:67555400-67566200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr3:67555800-67566200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr3:67555800-67567800	Weak transcription	Fetal Muscle Leg	muscle
47	chr3:67555800-67579600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr3:67556000-67566200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr3:67557400-67583200	Weak transcription	K562	blood
50	chr3:67558200-67562200	Strong transcription	Primary B cells from cord blood	blood

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