Variant report

Variant	esv3366619
Chromosome Location	chr2:73932602-73946742
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:86)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:86 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:73944205-73944414	HepG2	liver:	n/a	n/a
2	ATF1	chr2:73943828-73944353	K562	blood:	n/a	n/a
3	BHLHE40	chr2:73933790-73934083	K562	blood:	n/a	n/a
4	CBX3	chr2:73944839-73945197	K562	blood:	n/a	n/a
5	CBX3	chr2:73943935-73944537	K562	blood:	n/a	n/a
6	CEBPB	chr2:73940735-73940928	K562	blood:	n/a	chr2:73940777-73940788
7	CEBPB	chr2:73940714-73941127	IMR90	lung:	n/a	chr2:73940777-73940788
8	CEBPB	chr2:73940640-73941075	HepG2	liver:	n/a	chr2:73940777-73940788
9	CEBPB	chr2:73940681-73941130	A549	lung:	n/a	chr2:73940777-73940788
10	CTCF	chr2:73944192-73944447	K562	blood:	n/a	n/a
11	CTCF	chr2:73944220-73944370	HPAF	blood vessel:	n/a	n/a
12	CTCF	chr2:73944520-73944670	HepG2	liver:	n/a	n/a
13	CTCF	chr2:73944200-73944350	HCPEpiC	choroid plexus:	n/a	n/a
14	CTCF	chr2:73944280-73944430	Caco-2	colon:	n/a	n/a
15	CTCF	chr2:73944400-73944550	HCM	heart:	n/a	n/a
16	CTCF	chr2:73944200-73944350	HCM	heart:	n/a	n/a
17	EP300	chr2:73944097-73944564	K562	blood:	n/a	n/a
18	ETS1	chr2:73941252-73941483	K562	blood:	n/a	n/a
19	HEY1	chr2:73943863-73944342	HepG2	liver:	n/a	n/a
20	IRF1	chr2:73943990-73944474	K562	blood:	n/a	n/a
21	IRF1	chr2:73944085-73944445	K562	blood:	n/a	n/a
22	JUND	chr2:73944060-73944434	K562	blood:	n/a	n/a
23	KAP1	chr2:73941032-73941578	K562	blood:	n/a	n/a
24	MAFK	chr2:73943085-73943128	IMR90	lung:	n/a	n/a
25	MAFK	chr2:73933541-73933548	HepG2	liver:	n/a	n/a
26	MAFK	chr2:73942988-73943102	HepG2	liver:	n/a	n/a
27	MAFK	chr2:73933520-73933547	HepG2	liver:	n/a	n/a
28	MAX	chr2:73944068-73944476	K562	blood:	n/a	n/a
29	MAX	chr2:73944012-73944445	K562	blood:	n/a	n/a
30	MAX	chr2:73944066-73944358	HepG2	liver:	n/a	n/a
31	MAZ	chr2:73944145-73944486	K562	blood:	n/a	n/a
32	MXI1	chr2:73944118-73944418	HepG2	liver:	n/a	n/a
33	MYC	chr2:73943612-73944510	K562	blood:	n/a	n/a
34	MYC	chr2:73944100-73944459	K562	blood:	n/a	n/a
35	NFE2	chr2:73934416-73934499	GM12878	blood:	n/a	n/a
36	NFYA	chr2:73944099-73944319	K562	blood:	n/a	chr2:73944235-73944253
37	NFYB	chr2:73944056-73944379	K562	blood:	n/a	n/a
38	NFYB	chr2:73944073-73944301	GM12878	blood:	n/a	n/a
39	PML	chr2:73943931-73944452	K562	blood:	n/a	n/a
40	POLR2A	chr2:73939321-73939398	K562	blood:	n/a	n/a
41	POLR2A	chr2:73943930-73944467	HepG2	liver:	n/a	n/a
42	POLR2A	chr2:73943784-73944254	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr2:73936967-73937120	K562	blood:	n/a	n/a
44	POLR2A	chr2:73943840-73944478	HepG2	liver:	n/a	n/a
45	POLR2A	chr2:73943762-73944301	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr2:73944115-73944247	HepG2	liver:	n/a	n/a
47	POLR2A	chr2:73944044-73944396	K562	blood:	n/a	n/a
48	POLR2A	chr2:73944112-73944114	HepG2	liver:	n/a	n/a
49	POLR2A	chr2:73944961-73944969	MCF-7	breast:	n/a	n/a
50	POLR2A	chr2:73937393-73937653	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:73931503..73934295-chr2:73936024..73937687,2	MCF-7	breast:
2	chr2:73868945..73872912-chr2:73927731..73932752,4	MCF-7	breast:
3	chr2:73934847..73936533-chr2:73939356..73942331,2	K562	blood:
4	chr2:73931503..73934295-chr2:73936024..73937687,2	MCF-7	breast:
5	chr2:73932554..73934998-chr2:74005796..74007372,2	MCF-7	breast:
6	chr2:73934784..73936668-chr2:73963156..73965791,2	K562	blood:
7	chr2:73945415..73947505-chr2:73953398..73955264,2	K562	blood:
8	chr2:73934847..73936533-chr2:73939356..73942331,2	K562	blood:
9	chr2:73943613..73945709-chr2:73953816..73955383,2	MCF-7	breast:
10	chr2:73928399..73931050-chr2:73932225..73934947,2	K562	blood:
11	chr2:73940417..73941921-chr2:73955171..73957279,2	MCF-7	breast:
12	chr2:73927692..73931050-chr2:73931884..73934947,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C2orf78-1	chr2:73933639-73934687	ENSG00000251346

No data

Variant related genes	Relation type
ENSG00000204872	TF binding region
ENSG00000144035	chromatin interactions
ENSG00000144034	chromatin interactions
ENSG00000204872	chromatin interactions
ENSG00000144048	chromatin interactions
ENSG00000163016	chromatin interactions
UBE2I	miRNA target sites

Extended variants
information (count: 555 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:555 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184973515	chr2:73932619-73932620	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs554978179	chr2:73932638-73932639	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs575910282	chr2:73932671-73932672	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs369055758	chr2:73932691-73932692	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs190906656	chr2:73932698-73932699	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs564350159	chr2:73932703-73932704	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs183674609	chr2:73932724-73932725	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs540374134	chr2:73932728-73932729	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs372981650	chr2:73932743-73932744	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs561722971	chr2:73932752-73932753	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs371413560	chr2:73932784-73932785	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs187365502	chr2:73932786-73932787	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs112390021	chr2:73932802-73932803	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs538679365	chr2:73932809-73932810	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs191784780	chr2:73932834-73932835	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs183586194	chr2:73932843-73932844	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs73946177	chr2:73932852-73932853	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs146340213	chr2:73932885-73932886	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs139237421	chr2:73932899-73932900	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs114262935	chr2:73932941-73932942	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs149987297	chr2:73932954-73932955	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs13013903	chr2:73932960-73932961	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs555978204	chr2:73933016-73933017	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs562191935	chr2:73933041-73933042	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs386647353	chr2:73933083-73933084	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs115660634	chr2:73933085-73933086	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs575806053	chr2:73933103-73933104	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs540166723	chr2:73933123-73933124	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs557926218	chr2:73933139-73933140	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs376983504	chr2:73933142-73933143	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs144368495	chr2:73933167-73933168	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs148797708	chr2:73933200-73933201	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs561811125	chr2:73933214-73933215	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs574099303	chr2:73933263-73933264	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs74741037	chr2:73933264-73933265	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs544235728	chr2:73933299-73933300	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs562912007	chr2:73933310-73933311	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs536412286	chr2:73933311-73933312	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs114094312	chr2:73933328-73933329	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs564251907	chr2:73933334-73933335	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs528329483	chr2:73933366-73933367	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs554767280	chr2:73933392-73933393	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs113185209	chr2:73933471-73933472	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs60938648	chr2:73933477-73933478	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs117140776	chr2:73933512-73933513	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs534074962	chr2:73933513-73933514	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs13424866	chr2:73933527-73933528	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs550295850	chr2:73933545-73933546	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs568881417	chr2:73933565-73933566	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs539723061	chr2:73933566-73933567	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73900600-73954800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:73927200-73932800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:73927800-73954800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:73928400-73936200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:73929200-73936400	Enhancers	Fetal Intestine Large	intestine
6	chr2:73929800-73934200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:73929800-73934400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:73929800-73934600	Weak transcription	Colonic Mucosa	Colon
9	chr2:73930600-73932800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr2:73931000-73933800	Weak transcription	Fetal Intestine Small	intestine
11	chr2:73932200-73934200	Weak transcription	K562	blood
12	chr2:73932200-73943400	Weak transcription	Ovary	ovary
13	chr2:73932400-73936800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:73932600-73933800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:73932800-73934000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:73932800-73935000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:73933400-73933600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:73933400-73936400	Enhancers	Duodenum Mucosa	Duodenum
19	chr2:73933800-73934000	Enhancers	Primary hematopoietic stem cells	blood
20	chr2:73933800-73936200	Enhancers	Fetal Intestine Small	intestine
21	chr2:73934000-73934400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:73934000-73934400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:73934000-73936800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:73934200-73934400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
25	chr2:73934200-73935000	Enhancers	K562	blood
26	chr2:73934200-73936400	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr2:73934400-73934800	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr2:73934400-73935200	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr2:73934400-73936000	Enhancers	Primary hematopoietic stem cells	blood
30	chr2:73934600-73935000	Enhancers	Colonic Mucosa	Colon
31	chr2:73934800-73935200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:73934800-73936000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr2:73935000-73936000	Weak transcription	K562	blood
34	chr2:73935000-73955200	Weak transcription	Colonic Mucosa	Colon
35	chr2:73935200-73936000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:73936000-73936200	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr2:73936000-73936200	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr2:73936000-73936200	Enhancers	K562	blood
39	chr2:73936400-73943400	Weak transcription	Fetal Intestine Large	intestine
40	chr2:73942600-73943600	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr2:73942800-73945000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr2:73943000-73943400	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr2:73943000-73943800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:73943200-73943600	Enhancers	HepG2	liver
45	chr2:73943200-73944000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:73943200-73944600	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr2:73943400-73943600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:73943400-73943600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:73943400-73943600	Enhancers	Duodenum Mucosa	Duodenum
50	chr2:73943400-73943600	Enhancers	Fetal Intestine Large	intestine

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