Variant report

Variant	esv3363056
Chromosome Location	chr3:93558912-93563110
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	ARID3A	chr3:93560605-93560733	K562	blood:	n/a	n/a
2	ARID3A	chr3:93560633-93560810	HepG2	liver:	n/a	n/a
3	CBX3	chr3:93560363-93560688	HCT-116	colon:	n/a	n/a
4	CEBPB	chr3:93560459-93560814	IMR90	lung:	n/a	n/a
5	CEBPB	chr3:93560370-93560707	A549	lung:	n/a	n/a
6	CEBPB	chr3:93560562-93560819	K562	blood:	n/a	n/a
7	CEBPB	chr3:93560563-93560817	HepG2	liver:	n/a	n/a
8	CEBPB	chr3:93560514-93560789	A549	lung:	n/a	n/a
9	CEBPB	chr3:93560451-93560821	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr3:93560500-93560650	MCF-7	breast:	n/a	n/a
11	CTCF	chr3:93560700-93560850	HMEC	breast:	n/a	n/a
12	CTCF	chr3:93560640-93560790	HPAF	blood vessel:	n/a	chr3:93560691-93560712 chr3:93560696-93560714
13	CTCF	chr3:93560600-93560750	Hela-S3	cervix:	n/a	chr3:93560691-93560712 chr3:93560696-93560714
14	CTCF	chr3:93560500-93560650	HBMEC	blood vessel:	n/a	n/a
15	CTCF	chr3:93560600-93560750	GM12875	blood:	n/a	chr3:93560691-93560712 chr3:93560696-93560714
16	CTCF	chr3:93560480-93560630	AG04449	skin:	n/a	n/a
17	CTCF	chr3:93560480-93560630	GM12864	blood:	n/a	n/a
18	CTCF	chr3:93560600-93560750	HMF	breast:	n/a	chr3:93560691-93560712 chr3:93560696-93560714
19	CTCF	chr3:93560500-93560650	NHDF-neo	bronchial:	n/a	n/a
20	CTCF	chr3:93560700-93560850	WI-38	lung:	n/a	n/a
21	CTCF	chr3:93560500-93560650	HFF-Myc	foreskin:	n/a	n/a
22	CTCF	chr3:93560500-93560650	HCM	heart:	n/a	n/a
23	CTCF	chr3:93560579-93560752	MCF-7	breast:	n/a	chr3:93560691-93560712 chr3:93560696-93560714
24	CTCF	chr3:93560660-93560810	HPAF	blood vessel:	n/a	chr3:93560691-93560712 chr3:93560696-93560714
25	CTCF	chr3:93560700-93560850	GM12868	blood:	n/a	n/a
26	CTCF	chr3:93560500-93560650	GM12874	blood:	n/a	n/a
27	CTCF	chr3:93560500-93560650	HFF	foreskin:	n/a	n/a
28	CTCF	chr3:93560620-93560770	Caco-2	colon:	n/a	chr3:93560691-93560712 chr3:93560696-93560714
29	CTCF	chr3:93560720-93560870	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr3:93560760-93560910	GM12867	blood:	n/a	n/a
31	CTCF	chr3:93560500-93560650	GM12865	blood:	n/a	n/a
32	CTCF	chr3:93560571-93560740	NHEK	skin:	n/a	chr3:93560691-93560712 chr3:93560696-93560714
33	CTCF	chr3:93560500-93560650	HVMF	connective:	n/a	n/a
34	CTCF	chr3:93560580-93560819	MCF-7	breast:	n/a	chr3:93560691-93560712 chr3:93560696-93560714
35	CTCF	chr3:93560460-93560610	GM12865	blood:	n/a	n/a
36	CTCF	chr3:93560579-93560839	K562	blood:	n/a	chr3:93560691-93560712 chr3:93560696-93560714
37	CTCF	chr3:93560449-93560925	A549	lung:	n/a	chr3:93560691-93560712 chr3:93560696-93560714
38	CTCF	chr3:93560603-93560727	GM19239	blood:	n/a	chr3:93560691-93560712 chr3:93560696-93560714
39	CTCF	chr3:93560561-93560836	IMR90	lung:	n/a	chr3:93560691-93560712 chr3:93560696-93560714
40	CTCF	chr3:93560520-93560670	GM12873	blood:	n/a	n/a
41	CTCF	chr3:93560640-93560790	HL-60	blood:	n/a	chr3:93560691-93560712 chr3:93560696-93560714
42	CTCF	chr3:93560500-93560650	HCT-116	colon:	n/a	n/a
43	CTCF	chr3:93560500-93560650	RPTEC	kidney:	n/a	n/a
44	CTCF	chr3:93560566-93560822	K562	blood:	n/a	chr3:93560691-93560712 chr3:93560696-93560714
45	CTCF	chr3:93560620-93560770	SAEC	small airway:	n/a	chr3:93560691-93560712 chr3:93560696-93560714
46	CTCF	chr3:93560600-93560750	GM12872	blood:	n/a	chr3:93560691-93560712 chr3:93560696-93560714
47	CTCF	chr3:93560582-93560842	Pancreas_OC	pancreas:	n/a	chr3:93560691-93560712 chr3:93560696-93560714
48	CTCF	chr3:93560500-93560650	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr3:93560700-93560850	RPTEC	kidney:	n/a	n/a
50	CTCF	chr3:93560595-93560715	GM19240	blood:	n/a	chr3:93560691-93560712 chr3:93560696-93560714

Variant related genes	Relation type
RNU6-488P	TF binding region

Extended variants
information (count: 172 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552812000	chr3:93558914-93558915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9713029	chr3:93558926-93558927	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs545340843	chr3:93558937-93558938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189029864	chr3:93558968-93558969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372313765	chr3:93558972-93558973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542269611	chr3:93559014-93559015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74597695	chr3:93559039-93559040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139351162	chr3:93559057-93559058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372884966	chr3:93559063-93559064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368926221	chr3:93559075-93559076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544856843	chr3:93559076-93559077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181469765	chr3:93559080-93559081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112182362	chr3:93559106-93559107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79054370	chr3:93559125-93559126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530288884	chr3:93559143-93559144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9714073	chr3:93559148-93559149	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs560799284	chr3:93559169-93559170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13080093	chr3:93559173-93559174	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs551346157	chr3:93559192-93559193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571287934	chr3:93559222-93559223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562046252	chr3:93559223-93559224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377184058	chr3:93559226-93559227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530499453	chr3:93559256-93559257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369437194	chr3:93559275-93559276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550229656	chr3:93559331-93559332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567137002	chr3:93559367-93559368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373620134	chr3:93559373-93559374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535999831	chr3:93559399-93559400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552850694	chr3:93559421-93559422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148515863	chr3:93559473-93559474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376795265	chr3:93559490-93559491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374338053	chr3:93559524-93559525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538699129	chr3:93559568-93559569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551285501	chr3:93559572-93559573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115845626	chr3:93559595-93559596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555494430	chr3:93559707-93559708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530403160	chr3:93559739-93559740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184914160	chr3:93559807-93559808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189520886	chr3:93559865-93559866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575096881	chr3:93559873-93559874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552123031	chr3:93559875-93559876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540824652	chr3:93559952-93559953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181065958	chr3:93559973-93559974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374020938	chr3:93560002-93560003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532822824	chr3:93560006-93560007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376932784	chr3:93560014-93560015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369616286	chr3:93560021-93560022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373501225	chr3:93560025-93560026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376505626	chr3:93560031-93560032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370906976	chr3:93560044-93560045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	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
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
Neurodevelopmental disorder	22521361	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	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
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:93558200-93559200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr3:93558600-93560200	Weak transcription	Psoas Muscle	Psoas
3	chr3:93558800-93559000	Enhancers	Osteobl	bone
4	chr3:93559000-93560200	Weak transcription	Osteobl	bone
5	chr3:93559200-93560200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr3:93560000-93560200	Enhancers	Adipose Nuclei	Adipose
7	chr3:93560000-93560200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr3:93560000-93560200	Enhancers	Fetal Muscle Trunk	muscle
9	chr3:93560200-93560400	Enhancers	Primary B cells from peripheral blood	blood
10	chr3:93560200-93560400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr3:93560200-93560400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:93560200-93560400	Enhancers	HUVEC	blood vessel
13	chr3:93560200-93560600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:93560200-93560600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr3:93560200-93560600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:93560200-93560600	Active TSS	Muscle Satellite Cultured Cells	--
17	chr3:93560200-93560600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:93560200-93560600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:93560200-93560600	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr3:93560200-93560600	Active TSS	Aorta	Aorta
21	chr3:93560200-93560600	Flanking Active TSS	Liver	Liver
22	chr3:93560200-93560600	Active TSS	Brain Anterior Caudate	brain
23	chr3:93560200-93560600	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr3:93560200-93560600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr3:93560200-93560600	Active TSS	Colon Smooth Muscle	Colon
26	chr3:93560200-93560600	Active TSS	Duodenum Mucosa	Duodenum
27	chr3:93560200-93560600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr3:93560200-93560600	Active TSS	Fetal Intestine Small	intestine
29	chr3:93560200-93560600	Flanking Active TSS	Fetal Muscle Trunk	muscle
30	chr3:93560200-93560600	Enhancers	Placenta	Placenta
31	chr3:93560200-93560600	Active TSS	Psoas Muscle	Psoas
32	chr3:93560200-93560600	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr3:93560200-93560600	Active TSS	Rectal Smooth Muscle	rectum
34	chr3:93560200-93560600	Active TSS	Right Atrium	heart
35	chr3:93560200-93560600	Active TSS	Right Ventricle	heart
36	chr3:93560200-93560600	Active TSS	HMEC	breast
37	chr3:93560200-93560600	Active TSS	NH-A	brain
38	chr3:93560200-93560600	Active TSS	NHDF-Ad	bronchial
39	chr3:93560200-93560800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr3:93560200-93560800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:93560200-93560800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:93560200-93560800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr3:93560200-93560800	Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr3:93560200-93560800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr3:93560200-93560800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:93560200-93560800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr3:93560200-93560800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:93560200-93560800	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr3:93560200-93560800	Active TSS	Fetal Muscle Leg	muscle
50	chr3:93560200-93560800	Active TSS	Ovary	ovary

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