Variant report

Variant	esv1797756
Chromosome Location	chr3:120464660-120473719
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:120472618-120473276	Hela-S3	cervix:	n/a	chr3:120473118-120473129 chr3:120473118-120473131 chr3:120472902-120472915 chr3:120473118-120473131 chr3:120472815-120472826
2	CEBPB	chr3:120472686-120473145	IMR90	lung:	n/a	chr3:120473118-120473129 chr3:120473118-120473131 chr3:120472902-120472915 chr3:120473118-120473131 chr3:120472815-120472826
3	CTCF	chr3:120468883-120468952	Lung_OC	lung:	n/a	n/a
4	EP300	chr3:120472558-120473124	Hela-S3	cervix:	n/a	chr3:120472813-120472827
5	EP300	chr3:120468737-120469036	Hela-S3	cervix:	n/a	n/a
6	FOS	chr3:120468757-120469043	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr3:120468742-120468996	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr3:120472689-120473025	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr3:120472679-120473007	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr3:120468836-120469043	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr3:120472675-120473007	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr3:120472654-120473049	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr3:120468753-120469065	MCF10A-Er-Src	breast:	n/a	n/a
14	MAFF	chr3:120471745-120472073	HepG2	liver:	n/a	chr3:120471901-120471919
15	MAFK	chr3:120471760-120472048	K562	blood:	n/a	chr3:120471903-120471918
16	MAFK	chr3:120471737-120472080	HepG2	liver:	n/a	chr3:120471903-120471918
17	MAFK	chr3:120471736-120472091	HepG2	liver:	n/a	chr3:120471903-120471918
18	MAFK	chr3:120471733-120472069	IMR90	lung:	n/a	chr3:120471903-120471918
19	MYC	chr3:120472687-120472977	MCF10A-Er-Src	breast:	n/a	n/a
20	MYC	chr3:120472739-120472977	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr3:120465160-120465269	HepG2	liver:	n/a	n/a
22	POLR2A	chr3:120470113-120470150	ProgFib	skin:	n/a	n/a
23	POLR2A	chr3:120465402-120465683	HepG2	liver:	n/a	n/a
24	POLR2A	chr3:120464711-120464720	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr3:120465252-120465424	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr3:120460738-120464825	K562	blood:	n/a	n/a
27	POLR2A	chr3:120468338-120468479	ProgFib	skin:	n/a	n/a
28	STAT3	chr3:120472735-120472934	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr3:120472754-120473131	MCF10A-Er-Src	breast:	n/a	chr3:120473083-120473090
30	STAT3	chr3:120472645-120472845	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr3:120472644-120473055	Hela-S3	cervix:	n/a	n/a
32	WRNIP1	chr3:120471557-120471623	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:120469262..120472636-chr3:120473122..120476515,3	MCF-7	breast:
2	chr3:120459962..120462838-chr3:120467772..120469479,2	MCF-7	breast:
3	chr3:120469262..120472636-chr3:120473122..120476515,3	MCF-7	breast:
4	chr3:120459863..120463133-chr3:120465920..120470912,5	K562	blood:
5	chr3:120459655..120461211-chr3:120463025..120465017,2	MCF-7	breast:

Variant related genes	Relation type
RABL3	TF binding region
ENSG00000153767	chromatin interactions
ENSG00000144840	chromatin interactions

Extended variants
information (count: 314 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16831597	chr3:120464660-120464661	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529814718	chr3:120464666-120464667	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs546905715	chr3:120464673-120464674	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs566641363	chr3:120464706-120464707	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs539073192	chr3:120464727-120464728	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs558686868	chr3:120464758-120464759	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs186797514	chr3:120464831-120464832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538359105	chr3:120464854-120464855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13082232	chr3:120464899-120464900	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs191646654	chr3:120464906-120464907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375171564	chr3:120464913-120464914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115702323	chr3:120464916-120464917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112629144	chr3:120464925-120464926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554490928	chr3:120465016-120465017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367670952	chr3:120465072-120465073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554028858	chr3:120465100-120465101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577471257	chr3:120465111-120465112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181916120	chr3:120465126-120465127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564741861	chr3:120465203-120465204	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs373354914	chr3:120465285-120465286	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs10662803	chr3:120465336-120465337	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs186194737	chr3:120465362-120465363	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs189823489	chr3:120465372-120465373	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs112084286	chr3:120465375-120465376	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs112293176	chr3:120465414-120465415	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs560632376	chr3:120465426-120465427	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs182184886	chr3:120465471-120465472	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs370623244	chr3:120465498-120465499	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs546477206	chr3:120465511-120465512	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs376361273	chr3:120465522-120465523	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs370711148	chr3:120465540-120465541	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs114841696	chr3:120465580-120465581	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs552415992	chr3:120465607-120465608	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs1466960	chr3:120465622-120465623	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs536444538	chr3:120465624-120465625	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs367634761	chr3:120465640-120465641	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs556758267	chr3:120465647-120465648	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs548735156	chr3:120465797-120465798	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112246264	chr3:120465815-120465816	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568558511	chr3:120465820-120465821	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188417397	chr3:120465835-120465836	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534251133	chr3:120465890-120465891	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554081349	chr3:120465902-120465903	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557136861	chr3:120465915-120465916	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537082758	chr3:120465937-120465938	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs576564142	chr3:120465945-120465946	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs577331955	chr3:120465959-120465960	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs371791020	chr3:120465976-120465977	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs191214247	chr3:120466001-120466002	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs183066151	chr3:120466043-120466044	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:348 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120462400-120471400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr3:120462600-120495200	Weak transcription	Aorta	Aorta
3	chr3:120462800-120464800	Enhancers	Adipose Nuclei	Adipose
4	chr3:120462800-120464800	Enhancers	HUVEC	blood vessel
5	chr3:120462800-120465400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:120462800-120468600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:120462800-120469400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr3:120462800-120469400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:120462800-120469400	Weak transcription	Placenta	Placenta
10	chr3:120462800-120469400	Weak transcription	Lung	lung
11	chr3:120462800-120469400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr3:120462800-120469400	Weak transcription	HSMMtube	muscle
13	chr3:120462800-120472200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr3:120462800-120473000	Weak transcription	Brain Anterior Caudate	brain
15	chr3:120462800-120483000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:120462800-120485600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr3:120462800-120499800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:120462800-120500000	Weak transcription	Gastric	stomach
19	chr3:120462800-120503000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr3:120463000-120465000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:120463000-120469200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr3:120463000-120469200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:120463000-120469400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr3:120463000-120469400	Weak transcription	Primary T cells from cord blood	blood
25	chr3:120463000-120469400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr3:120463000-120469400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:120463000-120469400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr3:120463000-120469400	Weak transcription	Esophagus	oesophagus
29	chr3:120463000-120469400	Weak transcription	Fetal Stomach	stomach
30	chr3:120463000-120469400	Weak transcription	Fetal Thymus	thymus
31	chr3:120463000-120469400	Weak transcription	Left Ventricle	heart
32	chr3:120463000-120469400	Weak transcription	Ovary	ovary
33	chr3:120463000-120469400	Weak transcription	Psoas Muscle	Psoas
34	chr3:120463000-120469400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr3:120463000-120469400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr3:120463000-120469400	Weak transcription	HSMM	muscle
37	chr3:120463000-120469400	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr3:120463000-120470000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr3:120463000-120472000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:120463000-120472000	Weak transcription	Stomach Mucosa	stomach
41	chr3:120463000-120472600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr3:120463000-120473200	Weak transcription	NHLF	lung
43	chr3:120463000-120477800	Weak transcription	Spleen	Spleen
44	chr3:120463000-120482400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr3:120463000-120484800	Weak transcription	K562	blood
46	chr3:120463000-120485600	Weak transcription	Pancreas	Pancrea
47	chr3:120463000-120485600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr3:120463000-120485600	Weak transcription	HMEC	breast
49	chr3:120463000-120493600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr3:120463000-120496000	Weak transcription	Fetal Lung	lung

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