Variant report

Variant	esv20443
Chromosome Location	chr2:73270284-73280427
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:73271314-73271655	HepG2	liver:	n/a	n/a
2	CEBPB	chr2:73271387-73271567	HepG2	liver:	n/a	n/a
3	CTCF	chr2:73271540-73271690	HepG2	liver:	n/a	n/a
4	CTCF	chr2:73277580-73277608	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr2:73271700-73271850	GM12867	blood:	n/a	n/a
6	E2F4	chr2:73278804-73278825	MCF10A-Er-Src	breast:	n/a	n/a
7	EP300	chr2:73271484-73271684	HepG2	liver:	n/a	n/a
8	MAX	chr2:73277066-73277744	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr2:73271409-73271504	HepG2	liver:	n/a	n/a
10	MAZ	chr2:73271418-73271590	HepG2	liver:	n/a	n/a
11	MYC	chr2:73277566-73277592	MCF-7	breast:	n/a	n/a
12	MYC	chr2:73277197-73277337	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr2:73277299-73277373	Gliobla	brain:	n/a	n/a
14	POLR2A	chr2:73277484-73277758	HepG2	liver:	n/a	n/a
15	POLR2A	chr2:73277307-73277433	HepG2	liver:	n/a	n/a
16	POLR2A	chr2:73279322-73279335	HepG2	liver:	n/a	n/a
17	POLR2A	chr2:73277387-73277657	K562	blood:	n/a	n/a
18	POLR2A	chr2:73278101-73278224	K562	blood:	n/a	n/a
19	POLR2A	chr2:73271488-73271615	HepG2	liver:	n/a	n/a
20	POLR2A	chr2:73277642-73277709	K562	blood:	n/a	n/a
21	POLR2A	chr2:73277329-73277503	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr2:73272683-73272774	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr2:73277475-73277483	MCF-7	breast:	n/a	n/a
24	POLR2A	chr2:73272780-73273151	HepG2	liver:	n/a	n/a
25	POLR2A	chr2:73277591-73277651	MCF-7	breast:	n/a	n/a
26	POLR2A	chr2:73277507-73277528	MCF-7	breast:	n/a	n/a
27	POLR2A	chr2:73276621-73276664	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr2:73280400-73280436	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr2:73279344-73279588	HepG2	liver:	n/a	n/a
30	POLR2A	chr2:73271756-73271923	HepG2	liver:	n/a	n/a
31	POLR2A	chr2:73277564-73277584	MCF-7	breast:	n/a	n/a
32	POLR2A	chr2:73276010-73276013	HepG2	liver:	n/a	n/a
33	POLR2A	chr2:73276455-73276513	MCF-7	breast:	n/a	n/a
34	POLR2A	chr2:73277908-73277929	K562	blood:	n/a	n/a
35	POLR2A	chr2:73277491-73277702	MCF-7	breast:	n/a	n/a
36	SIN3A	chr2:73277312-73277422	H1-hESC	embryonic stem cell:	n/a	n/a
37	SMC3	chr2:73271360-73271519	HepG2	liver:	n/a	n/a
38	SPI1	chr2:73278099-73278325	GM12891	blood:	n/a	n/a
39	TEAD4	chr2:73277149-73277650	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:73279695-73279745	AG04449	skin:	fetal
2	chr2:73279695-73279745	HCF	heart:	n/a
3	chr2:73279695-73279745	HMEC	breast:	n/a
4	chr2:73279695-73279745	ECC-1	luminal epithelium:	n/a
5	chr2:73279695-73279745	AG04450	lung:	fetal
6	chr2:73279695-73279745	Hepatocyte	liver:	n/a
7	chr2:73279695-73279745	HIPEpiC	eye:	n/a
8	chr2:73279695-73279745	HUVEC	blood vessel:	n/a
9	chr2:73279695-73279745	HCPEpiC	choroid plexus:	n/a
10	chr2:73279695-73279745	NT2-D1	testis:	n/a
11	chr2:73279695-73279745	SK-N-SH	brain:	n/a
12	chr2:73279695-73279745	SAEC	small airway:	n/a
13	chr2:73279695-73279745	PANC-1	pancreas:	n/a
14	chr2:73279695-73279745	PrEC	prostate:	n/a
15	chr2:73279695-73279745	A549	lung:	n/a
16	chr2:73279695-73279745	GM12891	blood:	n/a
17	chr2:73279695-73279745	H1-hESC	embryonic stem cell:	embryo
18	chr2:73279695-73279745	ovcar-3	ovarian:	n/a
19	chr2:73279695-73279745	BJ	skin:	n/a
20	chr2:73279695-73279745	T-47D	breast:	n/a
21	chr2:73279695-73279745	NHBE	bronchial:	n/a
22	chr2:73279695-73279745	GM06990	blood:	n/a
23	chr2:73279695-73279745	HEEpiC	esophagus:	n/a
24	chr2:73279695-73279745	AG09309	skin:	n/a
25	chr2:73279695-73279745	K562	blood:	n/a
26	chr2:73279695-73279745	Caco-2	colon:	n/a
27	chr2:73279695-73279745	IMR90	lung:	fetal
28	chr2:73279695-73279745	Hela-S3	cervix:	n/a
29	chr2:73279695-73279745	NH-A	brain:	n/a
30	chr2:73279695-73279745	HRCEpiC	kidney:	n/a
31	chr2:73279695-73279745	HepG2	liver:	n/a
32	chr2:73279695-73279745	HRPEpiC	eye:	n/a
33	chr2:73279695-73279745	HNPCEpiC	eye:	n/a
34	chr2:73279695-73279745	AG10803	skin:	n/a
35	chr2:73279695-73279745	AG09319	gingival:	n/a
36	chr2:73279695-73279745	HPAEpiC	pulmonary alveolar:	n/a
37	chr2:73279695-73279745	PFSK-1	brain:	n/a
38	chr2:73279695-73279745	MCF-7	breast:	n/a
39	chr2:73279695-73279745	U87	brain:	n/a
40	chr2:73279695-73279745	NB4	blood:	n/a
41	chr2:73279695-73279745	Jurkat	blood:	n/a
42	chr2:73279695-73279745	HRE	kidney:	n/a
43	chr2:73279695-73279745	HCT-116	colon:	n/a
44	chr2:73279695-73279745	MCF10A-Er-Src	breast:	n/a
45	chr2:73279695-73279745	HL-60	blood:	n/a
46	chr2:73279695-73279745	HEK293	kidney:	embryo
47	chr2:73279695-73279745	CMK	blood:	n/a
48	chr2:73279695-73279745	BE2_C	brain:	n/a
49	chr2:73279695-73279745	SK-N-MC	brain:	n/a
50	chr2:73279695-73279745	LNCaP	prostate:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:73275749..73277382-chr2:73286983..73288785,2	K562	blood:
2	chr2:73267398..73270364-chr2:73271412..73273216,2	MCF-7	breast:
3	chr2:73270996..73273259-chr2:73277285..73279841,3	K562	blood:
4	chr2:73263570..73266095-chr2:73269453..73271699,3	K562	blood:
5	chr2:73267482..73270454-chr2:73289575..73291356,2	K562	blood:
6	chr2:73275006..73276805-chr2:73291193..73293194,2	K562	blood:
7	chr2:73279821..73281679-chr2:73297681..73299564,2	MCF-7	breast:

No data

Variant related genes	Relation type
SFXN5	TF binding region
SFXN5	CpG island
ENSG00000144040	chromatin interactions

Extended variants
information (count: 396 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:396 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140287027	chr2:73270328-73270329	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs558042559	chr2:73270330-73270331	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs377241111	chr2:73270391-73270392	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540316540	chr2:73270401-73270402	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377309464	chr2:73270403-73270404	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529473433	chr2:73270451-73270452	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540485235	chr2:73270478-73270479	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188284872	chr2:73270535-73270536	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs367682949	chr2:73270558-73270559	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114400710	chr2:73270565-73270566	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544273064	chr2:73270569-73270570	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72920440	chr2:73270596-73270597	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs533238702	chr2:73270618-73270619	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375200375	chr2:73270640-73270641	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545993547	chr2:73270695-73270696	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564229462	chr2:73270721-73270722	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528395137	chr2:73270752-73270753	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546962562	chr2:73270791-73270792	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559574444	chr2:73270821-73270822	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375807259	chr2:73270828-73270829	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568352272	chr2:73270874-73270875	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528916143	chr2:73270883-73270884	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150339516	chr2:73270900-73270901	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs180689865	chr2:73270929-73270930	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138090510	chr2:73270945-73270946	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372040778	chr2:73270986-73270987	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13388404	chr2:73271013-73271014	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs534125429	chr2:73271030-73271031	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185352545	chr2:73271035-73271036	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574237812	chr2:73271045-73271046	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544613626	chr2:73271049-73271050	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35030009	chr2:73271083-73271084	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556248028	chr2:73271086-73271087	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs578054917	chr2:73271133-73271134	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545122953	chr2:73271167-73271168	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561985901	chr2:73271198-73271199	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560565259	chr2:73271199-73271200	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143704182	chr2:73271223-73271224	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540411982	chr2:73271227-73271228	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561990481	chr2:73271259-73271260	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529443821	chr2:73271301-73271302	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550848894	chr2:73271303-73271304	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75897011	chr2:73271315-73271316	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550566885	chr2:73271344-73271345	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562304429	chr2:73271359-73271360	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147040881	chr2:73271375-73271376	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551110834	chr2:73271382-73271383	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533742255	chr2:73271395-73271396	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558271736	chr2:73271413-73271414	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs200444164	chr2:73271424-73271425	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Myelofibrosis	22110671	CNVD

Chromatin state (count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73214200-73286400	Weak transcription	Psoas Muscle	Psoas
2	chr2:73223200-73274600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:73233200-73270800	Weak transcription	Brain Germinal Matrix	brain
4	chr2:73246400-73277400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:73246600-73283800	Weak transcription	Hela-S3	cervix
6	chr2:73247400-73283800	Weak transcription	Dnd41	blood
7	chr2:73248200-73277200	Weak transcription	HMEC	breast
8	chr2:73249200-73276000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:73249400-73284200	Weak transcription	Aorta	Aorta
10	chr2:73249400-73290000	Weak transcription	HUVEC	blood vessel
11	chr2:73249600-73271800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:73249600-73277000	Weak transcription	NH-A	brain
13	chr2:73249600-73290000	Weak transcription	NHLF	lung
14	chr2:73250000-73277200	Weak transcription	HSMMtube	muscle
15	chr2:73250200-73271400	Weak transcription	Thymus	Thymus
16	chr2:73250200-73284200	Weak transcription	Ovary	ovary
17	chr2:73250400-73277200	Weak transcription	Placenta	Placenta
18	chr2:73250800-73271400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:73250800-73276800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:73253200-73280800	Weak transcription	Fetal Lung	lung
21	chr2:73256400-73271000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:73256800-73279400	Weak transcription	Osteobl	bone
23	chr2:73256800-73280200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:73256800-73290000	Weak transcription	HSMM	muscle
25	chr2:73259200-73291200	Weak transcription	Small Intestine	intestine
26	chr2:73260200-73284200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr2:73260600-73284400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr2:73260800-73279200	Weak transcription	Fetal Intestine Large	intestine
29	chr2:73260800-73283800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr2:73261400-73282000	Weak transcription	Adipose Nuclei	Adipose
31	chr2:73261400-73284200	Weak transcription	Gastric	stomach
32	chr2:73262200-73271000	Weak transcription	Primary T cells from cord blood	blood
33	chr2:73262400-73280400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:73262800-73290600	Weak transcription	NHEK	skin
35	chr2:73263800-73277000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:73263800-73277200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:73264000-73270400	Weak transcription	Right Atrium	heart
38	chr2:73264000-73276600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:73264000-73276800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:73264000-73280800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr2:73264200-73271200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:73264200-73271400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:73264200-73290600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr2:73264400-73270400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:73264400-73270400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:73264400-73270600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr2:73264400-73271400	Weak transcription	Brain Substantia Nigra	brain
48	chr2:73264400-73276800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:73264400-73277000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:73264400-73277200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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