Variant report

Variant	nsv522180
Chromosome Location	chr2:209052303-209062388
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:244)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:209057340-209057490	NHLF	lung:	n/a	n/a
2	FOSL2	chr2:209057368-209057659	MCF-7	breast:	n/a	n/a
3	GATA3	chr2:209057333-209057834	MCF-7	breast:	n/a	n/a
4	GATA3	chr2:209057313-209057838	MCF-7	breast:	n/a	n/a
5	HA-E2F1	chr2:209056981-209057828	MCF-7	breast:	n/a	n/a
6	IRF1	chr2:209057878-209058128	K562	blood:	n/a	n/a
7	IRF1	chr2:209057901-209058093	K562	blood:	n/a	n/a
8	MAX	chr2:209057254-209057704	MCF-7	breast:	n/a	chr2:209057447-209057462
9	MYC	chr2:209059471-209059491	MCF10A-Er-Src	breast:	n/a	n/a
10	MYC	chr2:209057414-209057519	GM12878	blood:	n/a	chr2:209057447-209057462
11	POLR2A	chr2:209054232-209055275	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr2:209057469-209057470	Gliobla	brain:	n/a	n/a
13	POLR2A	chr2:209054216-209054965	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr2:209055573-209055722	ProgFib	skin:	n/a	n/a
15	POLR2A	chr2:209057019-209057102	MCF-7	breast:	n/a	n/a
16	REST	chr2:209053783-209055326	H1-neurons	neurons:	n/a	n/a
17	REST	chr2:209054226-209055055	H1-neurons	neurons:	n/a	n/a
18	SRF	chr2:209057686-209057913	H1-hESC	embryonic stem cell:	n/a	n/a
19	STAT1	chr2:209057303-209058285	Hela-S3	cervix:	n/a	chr2:209057816-209057827
20	STAT3	chr2:209057784-209057954	MCF10A-Er-Src	breast:	n/a	chr2:209057837-209057848 chr2:209057816-209057827
21	STAT3	chr2:209057637-209057956	MCF10A-Er-Src	breast:	n/a	chr2:209057837-209057848 chr2:209057816-209057827
22	STAT3	chr2:209060257-209060601	MCF10A-Er-Src	breast:	n/a	chr2:209060450-209060461
23	STAT3	chr2:209057699-209057988	MCF10A-Er-Src	breast:	n/a	chr2:209057837-209057848 chr2:209057816-209057827
24	STAT3	chr2:209060361-209060538	MCF10A-Er-Src	breast:	n/a	chr2:209060450-209060461
25	STAT3	chr2:209057620-209057956	MCF10A-Er-Src	breast:	n/a	chr2:209057837-209057848 chr2:209057816-209057827
26	STAT3	chr2:209062315-209062387	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr2:209060265-209060603	MCF10A-Er-Src	breast:	n/a	chr2:209060450-209060461
28	STAT3	chr2:209060264-209060603	MCF10A-Er-Src	breast:	n/a	chr2:209060450-209060461
29	STAT3	chr2:209057650-209057972	MCF10A-Er-Src	breast:	n/a	chr2:209057837-209057848 chr2:209057816-209057827
30	STAT5A	chr2:209060223-209060591	K562	blood:	n/a	n/a
31	TAF1	chr2:209054238-209055229	H1-neurons	neurons:	n/a	n/a
32	TAF1	chr2:209054423-209054887	H1-neurons	neurons:	n/a	n/a
33	TCF7L2	chr2:209057282-209057800	MCF-7	breast:	n/a	n/a
34	ZNF217	chr2:209057353-209057652	MCF-7	breast:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:209055151-209055201	HepG2	liver:	n/a
2	chr2:209055251-209055301	AG04450	lung:	fetal
3	chr2:209054670-209054720	HNPCEpiC	eye:	n/a
4	chr2:209054740-209054790	HEEpiC	esophagus:	n/a
5	chr2:209055151-209055201	NHDF-neo	bronchial:	n/a
6	chr2:209055151-209055201	SAEC	small airway:	n/a
7	chr2:209054670-209054720	MCF-7	breast:	n/a
8	chr2:209054670-209054720	SK-N-MC	brain:	n/a
9	chr2:209054670-209054720	HL-60	blood:	n/a
10	chr2:209054670-209054720	H1-hESC	embryonic stem cell:	embryo
11	chr2:209055151-209055201	HAEpiC	amniotic membrane:	n/a
12	chr2:209055151-209055201	CMK	blood:	n/a
13	chr2:209055151-209055201	AoSMC	blood vessel:	n/a
14	chr2:209054670-209054720	CMK	blood:	n/a
15	chr2:209054670-209054720	GM19239	blood:	n/a
16	chr2:209055151-209055201	HPAEpiC	pulmonary alveolar:	n/a
17	chr2:209055151-209055201	Caco-2	colon:	n/a
18	chr2:209055251-209055301	HCPEpiC	choroid plexus:	n/a
19	chr2:209055151-209055201	AG09309	skin:	n/a
20	chr2:209054740-209054790	H1-hESC	embryonic stem cell:	embryo
21	chr2:209055251-209055301	PrEC	prostate:	n/a
22	chr2:209055251-209055301	MCF-7	breast:	n/a
23	chr2:209055151-209055201	SK-N-SH_RA	brain:	n/a
24	chr2:209054740-209054790	ProgFib	skin:	n/a
25	chr2:209054740-209054790	NHBE	bronchial:	n/a
26	chr2:209054740-209054790	CMK	blood:	n/a
27	chr2:209055251-209055301	SKMC	muscle:	n/a
28	chr2:209055251-209055301	BJ	skin:	n/a
29	chr2:209054670-209054720	SKMC	muscle:	n/a
30	chr2:209054670-209054720	SAEC	small airway:	n/a
31	chr2:209055251-209055301	BE2_C	brain:	n/a
32	chr2:209054740-209054790	NHDF-neo	bronchial:	n/a
33	chr2:209055251-209055301	HUVEC	blood vessel:	n/a
34	chr2:209054670-209054720	Hepatocyte	liver:	n/a
35	chr2:209055251-209055301	HRE	kidney:	n/a
36	chr2:209055151-209055201	HCM	heart:	n/a
37	chr2:209054670-209054720	AG09319	gingival:	n/a
38	chr2:209055151-209055201	HEEpiC	esophagus:	n/a
39	chr2:209054740-209054790	Jurkat	blood:	n/a
40	chr2:209054670-209054720	HRPEpiC	eye:	n/a
41	chr2:209055251-209055301	SK-N-SH	brain:	n/a
42	chr2:209054740-209054790	PFSK-1	brain:	n/a
43	chr2:209055251-209055301	PANC-1	pancreas:	n/a
44	chr2:209055251-209055301	NHBE	bronchial:	n/a
45	chr2:209055151-209055201	SK-N-SH	brain:	n/a
46	chr2:209055251-209055301	ECC-1	luminal epithelium:	n/a
47	chr2:209054670-209054720	AG04450	lung:	fetal
48	chr2:209055251-209055301	GM12892	blood:	n/a
49	chr2:209054740-209054790	HCT-116	colon:	n/a
50	chr2:209055151-209055201	AG10803	skin:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:209060491..209062065-chr2:209066501..209069096,2	K562	blood:
2	chr2:209058168..209060792-chr2:209061919..209063895,2	K562	blood:
3	chr2:209058168..209060792-chr2:209061919..209063895,2	K562	blood:
4	chr2:209059939..209061469-chr2:209069888..209071988,2	K562	blood:
5	chr2:209041162..209042836-chr2:209051785..209054428,2	K562	blood:
6	chr2:209058318..209061036-chr2:209107934..209110316,2	MCF-7	breast:

No data

Variant related genes	Relation type
C2orf80	TF binding region
C2orf80	CpG island

Extended variants
information (count: 364 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:364 , 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	rs12986551	chr2:209052303-209052304	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs144364971	chr2:209052357-209052358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73986538	chr2:209052360-209052361	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs562945402	chr2:209052369-209052370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs935366	chr2:209052387-209052388	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs550604941	chr2:209052392-209052393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555988845	chr2:209052491-209052492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376715481	chr2:209052492-209052493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187983932	chr2:209052510-209052511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199617794	chr2:209052511-209052512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368971873	chr2:209052563-209052564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75787837	chr2:209052615-209052616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377589847	chr2:209052737-209052738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374852405	chr2:209052769-209052770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs180909374	chr2:209052807-209052808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372070141	chr2:209052809-209052810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372458387	chr2:209052810-209052811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs578154849	chr2:209052861-209052862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369102117	chr2:209052876-209052877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556393730	chr2:209052884-209052885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568725706	chr2:209052906-209052907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576263821	chr2:209052961-209052962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187265334	chr2:209052978-209052979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs367926265	chr2:209052990-209052991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs80351950	chr2:209052991-209052992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377499222	chr2:209053012-209053013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527315325	chr2:209053041-209053042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146638420	chr2:209053042-209053043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548010776	chr2:209053043-209053044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563705585	chr2:209053047-209053048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532885587	chr2:209053049-209053050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7579275	chr2:209053080-209053081	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs57187146	chr2:209053090-209053091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569926666	chr2:209053126-209053127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529440263	chr2:209053147-209053148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549461148	chr2:209053193-209053194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566342992	chr2:209053202-209053203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141424858	chr2:209053237-209053238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551772631	chr2:209053242-209053243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534929603	chr2:209053260-209053261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571618842	chr2:209053277-209053278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144627009	chr2:209053289-209053290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557481377	chr2:209053297-209053298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576350939	chr2:209053310-209053311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535614554	chr2:209053363-209053364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555408670	chr2:209053373-209053374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572322304	chr2:209053424-209053425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540941833	chr2:209053432-209053433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7579623	chr2:209053435-209053436	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs368156827	chr2:209053452-209053453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
Breast cancer	22522925	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209040000-209064000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:209049400-209052800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:209049800-209053400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:209050200-209053600	Weak transcription	Brain Germinal Matrix	brain
5	chr2:209051200-209055200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:209051400-209052400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:209051400-209052800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:209051600-209052400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:209051600-209053000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:209051800-209053400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:209051800-209053600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:209051800-209053600	Weak transcription	Brain Anterior Caudate	brain
13	chr2:209051800-209055400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:209052000-209052400	Weak transcription	Fetal Brain Male	brain
15	chr2:209052000-209052800	Enhancers	Liver	Liver
16	chr2:209052000-209053000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:209052000-209054200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr2:209052000-209054200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:209052000-209054400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:209052000-209054400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr2:209052200-209052600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:209052200-209052800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:209052200-209052800	Enhancers	Fetal Brain Female	brain
24	chr2:209052400-209052800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:209052400-209053800	Enhancers	Fetal Brain Male	brain
26	chr2:209052400-209054400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:209052600-209052800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:209052800-209053000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:209052800-209053600	Weak transcription	Fetal Brain Female	brain
30	chr2:209052800-209054200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:209052800-209054200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:209052800-209054400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:209052800-209055000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:209053000-209053400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:209053000-209054200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:209053000-209054200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:209053400-209053600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:209053400-209054200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:209053400-209056000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:209053600-209053800	Flanking Active TSS	Fetal Brain Female	brain
41	chr2:209053600-209054000	Enhancers	Brain Germinal Matrix	brain
42	chr2:209053600-209054200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:209053600-209054200	Enhancers	Brain Anterior Caudate	brain
44	chr2:209053600-209055000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:209053800-209054800	Flanking Active TSS	Fetal Brain Male	brain
46	chr2:209053800-209054800	Active TSS	Fetal Brain Female	brain
47	chr2:209054000-209054400	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr2:209054000-209054800	Active TSS	Brain Hippocampus Middle	brain
49	chr2:209054200-209054400	Flanking Active TSS	Brain Angular Gyrus	brain
50	chr2:209054200-209054400	Flanking Active TSS	Brain Anterior Caudate	brain

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