Variant report

Variant	esv2760541
Chromosome Location	chr2:208936949-208945639
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	chr2:208937022-208937369	HepG2	liver:	n/a	n/a
2	ATF1	chr2:208937016-208937252	K562	blood:	n/a	n/a
3	CCNT2	chr2:208937077-208937407	K562	blood:	n/a	n/a
4	CEBPB	chr2:208936980-208937264	IMR90	lung:	n/a	n/a
5	CEBPB	chr2:208941885-208942162	IMR90	lung:	n/a	chr2:208942035-208942046
6	CEBPB	chr2:208941960-208942133	HepG2	liver:	n/a	chr2:208942035-208942046
7	CEBPB	chr2:208939858-208939891	HepG2	liver:	n/a	n/a
8	CEBPB	chr2:208939806-208939944	K562	blood:	n/a	n/a
9	CEBPB	chr2:208940698-208940858	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD1	chr2:208936958-208937601	IMR90	lung:	n/a	n/a
11	CTCF	chr2:208937120-208937270	AG09309	skin:	n/a	chr2:208937192-208937208 chr2:208937186-208937207 chr2:208937191-208937209
12	CTCF	chr2:208937560-208937710	NHDF-neo	bronchial:	n/a	n/a
13	CTCF	chr2:208937073-208937322	GM19239	blood:	n/a	chr2:208937192-208937208 chr2:208937186-208937207 chr2:208937191-208937209
14	CTCF	chr2:208942080-208942230	AG10803	skin:	n/a	n/a
15	CTCF	chr2:208937120-208937270	HEEpiC	esophagus:	n/a	chr2:208937192-208937208 chr2:208937186-208937207 chr2:208937191-208937209
16	CTCF	chr2:208937200-208937350	HCT-116	colon:	n/a	n/a
17	CTCF	chr2:208937120-208937270	GM12873	blood:	n/a	chr2:208937192-208937208 chr2:208937186-208937207 chr2:208937191-208937209
18	CTCF	chr2:208937100-208937250	GM12874	blood:	n/a	chr2:208937192-208937208 chr2:208937186-208937207 chr2:208937191-208937209
19	CTCF	chr2:208936920-208937070	RPTEC	kidney:	n/a	n/a
20	CTCF	chr2:208939660-208939810	HCPEpiC	choroid plexus:	n/a	n/a
21	CTCF	chr2:208937108-208937258	H1-hESC	embryonic stem cell:	n/a	chr2:208937192-208937208 chr2:208937186-208937207 chr2:208937191-208937209
22	CTCF	chr2:208937140-208937290	BJ	skin:	n/a	chr2:208937192-208937208 chr2:208937186-208937207 chr2:208937191-208937209
23	CTCF	chr2:208937100-208937250	GM06990	blood:	n/a	chr2:208937192-208937208 chr2:208937186-208937207 chr2:208937191-208937209
24	CTCF	chr2:208937100-208937250	SAEC	small airway:	n/a	chr2:208937192-208937208 chr2:208937186-208937207 chr2:208937191-208937209
25	CTCF	chr2:208937200-208937350	HFF	foreskin:	n/a	n/a
26	CTCF	chr2:208937087-208937341	A549	lung:	n/a	chr2:208937192-208937208 chr2:208937186-208937207 chr2:208937191-208937209
27	CTCF	chr2:208937140-208937290	GM12872	blood:	n/a	chr2:208937192-208937208 chr2:208937186-208937207 chr2:208937191-208937209
28	CTCF	chr2:208937180-208937330	NHDF-neo	bronchial:	n/a	chr2:208937192-208937208 chr2:208937186-208937207 chr2:208937191-208937209
29	CTCF	chr2:208937120-208937270	AG09319	gingival:	n/a	chr2:208937192-208937208 chr2:208937186-208937207 chr2:208937191-208937209
30	CTCF	chr2:208937140-208937290	GM12875	blood:	n/a	chr2:208937192-208937208 chr2:208937186-208937207 chr2:208937191-208937209
31	CTCF	chr2:208937140-208937290	GM12874	blood:	n/a	chr2:208937192-208937208 chr2:208937186-208937207 chr2:208937191-208937209
32	CTCF	chr2:208936957-208937377	ECC-1	luminal epithelium:	n/a	chr2:208937192-208937208 chr2:208937186-208937207 chr2:208937191-208937209
33	CTCF	chr2:208937040-208937374	H1-hESC	embryonic stem cell:	n/a	chr2:208937186-208937207 chr2:208937191-208937209 chr2:208937192-208937208
34	CTCF	chr2:208937100-208937250	HBMEC	blood vessel:	n/a	chr2:208937192-208937208 chr2:208937186-208937207 chr2:208937191-208937209
35	CTCF	chr2:208937140-208937290	HBMEC	blood vessel:	n/a	chr2:208937192-208937208 chr2:208937186-208937207 chr2:208937191-208937209
36	CTCF	chr2:208937017-208937307	SK-N-SH_RA	brain:	n/a	chr2:208937192-208937208 chr2:208937186-208937207 chr2:208937191-208937209
37	CTCF	chr2:208937120-208937270	HPAF	blood vessel:	n/a	chr2:208937192-208937208 chr2:208937186-208937207 chr2:208937191-208937209
38	CTCF	chr2:208937140-208937290	GM12871	blood:	n/a	chr2:208937192-208937208 chr2:208937186-208937207 chr2:208937191-208937209
39	CTCF	chr2:208937080-208937347	LNCaP	prostate:	n/a	chr2:208937192-208937208 chr2:208937186-208937207 chr2:208937191-208937209
40	CTCF	chr2:208937051-208937365	Spleen_OC	spleen:	n/a	chr2:208937192-208937208 chr2:208937186-208937207 chr2:208937191-208937209
41	CTCF	chr2:208937140-208937290	HepG2	liver:	n/a	chr2:208937192-208937208 chr2:208937186-208937207 chr2:208937191-208937209
42	CTCF	chr2:208937079-208937334	GM10248	blood:	n/a	chr2:208937192-208937208 chr2:208937186-208937207 chr2:208937191-208937209
43	CTCF	chr2:208937180-208937330	MCF-7	breast:	n/a	chr2:208937192-208937208 chr2:208937186-208937207 chr2:208937191-208937209
44	CTCF	chr2:208937460-208937610	HCPEpiC	choroid plexus:	n/a	n/a
45	CTCF	chr2:208937100-208937250	Caco-2	colon:	n/a	chr2:208937192-208937208 chr2:208937186-208937207 chr2:208937191-208937209
46	CTCF	chr2:208937061-208937334	GM19240	blood:	n/a	chr2:208937192-208937208 chr2:208937186-208937207 chr2:208937191-208937209
47	CTCF	chr2:208937120-208937270	AoAF	blood vessel:	n/a	chr2:208937192-208937208 chr2:208937186-208937207 chr2:208937191-208937209
48	CTCF	chr2:208936900-208937050	AG04450	lung:	n/a	n/a
49	CTCF	chr2:208937064-208937345	Hela-S3	cervix:	n/a	chr2:208937192-208937208 chr2:208937186-208937207 chr2:208937191-208937209
50	CTCF	chr2:208936871-208937509	HCT-116	colon:	n/a	chr2:208937192-208937208 chr2:208937186-208937207 chr2:208937191-208937209

No.	Distal block	Cell Line	Cell type
1	chr2:208610620..208611446-chr2:208936761..208937296,2	K562	blood:
2	chr2:208610541..208611426-chr2:208936788..208937593,3	MCF-7	breast:
3	chr2:208926371..208927250-chr2:208936763..208937685,3	MCF-7	breast:
4	chr2:208935178..208937154-chr2:208940190..208941817,2	K562	blood:
5	chr2:208935178..208937154-chr2:208940190..208941817,2	K562	blood:
6	chr2:208913270..208916048-chr2:208940472..208942742,2	MCF-7	breast:
7	chr2:208612897..208614642-chr2:208935688..208937623,2	MCF-7	breast:
8	chr2:208610244..208611407-chr2:208936738..208937658,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238582	TF binding region

Extended variants
information (count: 301 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:301 , 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	rs4234084	chr2:208936949-208936950	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188459631	chr2:208936996-208936997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575052904	chr2:208937050-208937051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540951120	chr2:208937166-208937167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184504315	chr2:208937183-208937184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138498944	chr2:208937194-208937195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187601847	chr2:208937196-208937197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546218181	chr2:208937284-208937285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562736229	chr2:208937356-208937357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562576122	chr2:208937370-208937371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548350784	chr2:208937379-208937380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192586703	chr2:208937406-208937407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184800640	chr2:208937436-208937437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529810220	chr2:208937498-208937499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112509937	chr2:208937512-208937513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188875984	chr2:208937517-208937518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143966854	chr2:208937547-208937548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150658891	chr2:208937549-208937550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35987696	chr2:208937595-208937596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552153885	chr2:208937646-208937647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182183990	chr2:208937647-208937648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184560691	chr2:208937666-208937667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376775865	chr2:208937673-208937674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138950557	chr2:208937708-208937709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534427438	chr2:208937742-208937743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372266053	chr2:208937758-208937759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367659445	chr2:208937823-208937824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71412459	chr2:208937912-208937913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs578041502	chr2:208937913-208937914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554397519	chr2:208937915-208937916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577658375	chr2:208937919-208937920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35122029	chr2:208937925-208937926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149418866	chr2:208937947-208937948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562907829	chr2:208937948-208937949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576574315	chr2:208938044-208938045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372207964	chr2:208938053-208938054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374280233	chr2:208938113-208938114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537609501	chr2:208938137-208938138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561883154	chr2:208938191-208938192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144467576	chr2:208938197-208938198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62192797	chr2:208938220-208938221	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs535440633	chr2:208938233-208938234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75243349	chr2:208938268-208938269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78018557	chr2:208938269-208938270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559871969	chr2:208938284-208938285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189886806	chr2:208938288-208938289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10201410	chr2:208938336-208938337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144062401	chr2:208938348-208938349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372186005	chr2:208938381-208938382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11894673	chr2:208938387-208938388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208936400-208937200	Enhancers	HMEC	breast
2	chr2:208936800-208937200	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr2:208937000-208937200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:208937000-208937400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:208937200-208938200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:208937200-208939200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:208938800-208939800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:208939200-208939800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:208939200-208940000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:208939200-208940000	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr2:208939400-208940000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:208939400-208940200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:208939600-208939800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:208939600-208939800	Flanking Active TSS	Brain Hippocampus Middle	brain
15	chr2:208939600-208939800	Enhancers	Placenta	Placenta
16	chr2:208939600-208940000	Enhancers	Fetal Heart	heart
17	chr2:208939600-208940000	Enhancers	Right Ventricle	heart
18	chr2:208939800-208940000	Active TSS	Brain Hippocampus Middle	brain
19	chr2:208939800-208940000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr2:208940400-208941400	Weak transcription	Placenta	Placenta
21	chr2:208941400-208942000	Enhancers	Placenta	Placenta
22	chr2:208941600-208942800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:208941800-208942400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:208941800-208942400	Enhancers	HSMMtube	muscle
25	chr2:208942000-208942400	Weak transcription	Placenta	Placenta
26	chr2:208942200-208944200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:208942400-208943600	Enhancers	Placenta	Placenta
28	chr2:208942400-208944200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:208942600-208942800	Flanking Bivalent TSS/Enh	HepG2	liver
30	chr2:208942600-208943000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr2:208942800-208943200	Enhancers	Fetal Muscle Trunk	muscle
32	chr2:208942800-208943200	Bivalent Enhancer	HepG2	liver
33	chr2:208942800-208943800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:208943400-208944200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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