Variant report

Variant	esv274878
Chromosome Location	chr2:209054297-209058385
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:244)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 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	chr2:209057313-209057838	MCF-7	breast:	n/a	n/a
4	GATA3	chr2:209057333-209057834	MCF-7	breast:	n/a	n/a
5	HA-E2F1	chr2:209056981-209057828	MCF-7	breast:	n/a	n/a
6	IRF1	chr2:209057901-209058093	K562	blood:	n/a	n/a
7	IRF1	chr2:209057878-209058128	K562	blood:	n/a	n/a
8	MAX	chr2:209057254-209057704	MCF-7	breast:	n/a	chr2:209057447-209057462
9	MYC	chr2:209057414-209057519	GM12878	blood:	n/a	chr2:209057447-209057462
10	POLR2A	chr2:209055573-209055722	ProgFib	skin:	n/a	n/a
11	POLR2A	chr2:209054216-209054965	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr2:209054232-209055275	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr2:209057019-209057102	MCF-7	breast:	n/a	n/a
14	POLR2A	chr2:209057469-209057470	Gliobla	brain:	n/a	n/a
15	REST	chr2:209054226-209055055	H1-neurons	neurons:	n/a	n/a
16	REST	chr2:209053783-209055326	H1-neurons	neurons:	n/a	n/a
17	SRF	chr2:209057686-209057913	H1-hESC	embryonic stem cell:	n/a	n/a
18	STAT1	chr2:209057303-209058285	Hela-S3	cervix:	n/a	chr2:209057816-209057827
19	STAT3	chr2:209057637-209057956	MCF10A-Er-Src	breast:	n/a	chr2:209057837-209057848 chr2:209057816-209057827
20	STAT3	chr2:209057784-209057954	MCF10A-Er-Src	breast:	n/a	chr2:209057837-209057848 chr2:209057816-209057827
21	STAT3	chr2:209057620-209057956	MCF10A-Er-Src	breast:	n/a	chr2:209057837-209057848 chr2:209057816-209057827
22	STAT3	chr2:209057650-209057972	MCF10A-Er-Src	breast:	n/a	chr2:209057837-209057848 chr2:209057816-209057827
23	STAT3	chr2:209057699-209057988	MCF10A-Er-Src	breast:	n/a	chr2:209057837-209057848 chr2:209057816-209057827
24	TAF1	chr2:209054423-209054887	H1-neurons	neurons:	n/a	n/a
25	TAF1	chr2:209054238-209055229	H1-neurons	neurons:	n/a	n/a
26	TCF7L2	chr2:209057282-209057800	MCF-7	breast:	n/a	n/a
27	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	chr2:209055251-209055301	NB4	blood:	n/a
2	chr2:209055151-209055201	HRCEpiC	kidney:	n/a
3	chr2:209054670-209054720	U87	brain:	n/a
4	chr2:209054670-209054720	K562	blood:	n/a
5	chr2:209055151-209055201	LNCaP	prostate:	n/a
6	chr2:209054670-209054720	PANC-1	pancreas:	n/a
7	chr2:209054670-209054720	PrEC	prostate:	n/a
8	chr2:209055151-209055201	GM12892	blood:	n/a
9	chr2:209054740-209054790	PFSK-1	brain:	n/a
10	chr2:209054670-209054720	PFSK-1	brain:	n/a
11	chr2:209054740-209054790	HCPEpiC	choroid plexus:	n/a
12	chr2:209054670-209054720	Hela-S3	cervix:	n/a
13	chr2:209055251-209055301	SK-N-SH_RA	brain:	n/a
14	chr2:209055151-209055201	PFSK-1	brain:	n/a
15	chr2:209055251-209055301	MCF-7	breast:	n/a
16	chr2:209054740-209054790	HAEpiC	amniotic membrane:	n/a
17	chr2:209055151-209055201	GM19239	blood:	n/a
18	chr2:209055251-209055301	NHDF-neo	bronchial:	n/a
19	chr2:209055251-209055301	AG04450	lung:	fetal
20	chr2:209055251-209055301	PrEC	prostate:	n/a
21	chr2:209054740-209054790	LNCaP	prostate:	n/a
22	chr2:209054740-209054790	AG09319	gingival:	n/a
23	chr2:209054740-209054790	HRPEpiC	eye:	n/a
24	chr2:209054670-209054720	T-47D	breast:	n/a
25	chr2:209055151-209055201	ProgFib	skin:	n/a
26	chr2:209054670-209054720	Caco-2	colon:	n/a
27	chr2:209054740-209054790	AG09309	skin:	n/a
28	chr2:209055151-209055201	HIPEpiC	eye:	n/a
29	chr2:209055251-209055301	BJ	skin:	n/a
30	chr2:209055151-209055201	MCF-7	breast:	n/a
31	chr2:209055251-209055301	HIPEpiC	eye:	n/a
32	chr2:209055251-209055301	MCF10A-Er-Src	breast:	n/a
33	chr2:209054670-209054720	HPAEpiC	pulmonary alveolar:	n/a
34	chr2:209055151-209055201	GM06990	blood:	n/a
35	chr2:209055151-209055201	RPTEC	kidney:	n/a
36	chr2:209054740-209054790	ovcar-3	ovarian:	n/a
37	chr2:209055251-209055301	HCM	heart:	n/a
38	chr2:209054740-209054790	HIPEpiC	eye:	n/a
39	chr2:209054740-209054790	H1-hESC	embryonic stem cell:	embryo
40	chr2:209055151-209055201	SKMC	muscle:	n/a
41	chr2:209055151-209055201	A549	lung:	n/a
42	chr2:209054740-209054790	Jurkat	blood:	n/a
43	chr2:209055251-209055301	AoSMC	blood vessel:	n/a
44	chr2:209055251-209055301	GM06990	blood:	n/a
45	chr2:209055251-209055301	AG09309	skin:	n/a
46	chr2:209054670-209054720	GM12892	blood:	n/a
47	chr2:209054670-209054720	NH-A	brain:	n/a
48	chr2:209055151-209055201	Hela-S3	cervix:	n/a
49	chr2:209055251-209055301	SK-N-MC	brain:	n/a
50	chr2:209055151-209055201	NHDF-neo	bronchial:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:209058318..209061036-chr2:209107934..209110316,2	MCF-7	breast:
2	chr2:209058168..209060792-chr2:209061919..209063895,2	K562	blood:
3	chr2:209041162..209042836-chr2:209051785..209054428,2	K562	blood:

No data

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

Extended variants
information (count: 157 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:157 , 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	rs552148409	chr2:209054311-209054312	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs138976184	chr2:209054312-209054313	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs142879950	chr2:209054317-209054318	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs551009318	chr2:209054405-209054406	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs6705133	chr2:209054422-209054423	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs530216207	chr2:209054449-209054450	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs546737407	chr2:209054483-209054484	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs565909928	chr2:209054494-209054495	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs534517257	chr2:209054500-209054501	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs557659592	chr2:209054511-209054512	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs573370126	chr2:209054536-209054537	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs571194378	chr2:209054603-209054604	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs536918234	chr2:209054621-209054622	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs556540283	chr2:209054622-209054623	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs573513721	chr2:209054628-209054629	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs542744539	chr2:209054640-209054641	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs552788694	chr2:209054661-209054662	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs115273860	chr2:209054671-209054672	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs545601261	chr2:209054672-209054673	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs184195068	chr2:209054682-209054683	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs531254120	chr2:209054704-209054705	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs370488858	chr2:209054814-209054815	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs147254062	chr2:209054838-209054839	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs186729602	chr2:209054842-209054843	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs138699691	chr2:209054849-209054850	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs13430046	chr2:209054928-209054929	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs566833367	chr2:209054944-209054945	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs116533905	chr2:209055000-209055001	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs551179088	chr2:209055075-209055076	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs571060439	chr2:209055076-209055077	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs190830913	chr2:209055098-209055099	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs67989853	chr2:209055164-209055165	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs571193254	chr2:209055180-209055181	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs149342791	chr2:209055201-209055202	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs535850180	chr2:209055247-209055248	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs10932246	chr2:209055323-209055324	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs572866180	chr2:209055324-209055325	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs34029379	chr2:209055392-209055393	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs559198624	chr2:209055400-209055401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376893042	chr2:209055425-209055426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370503632	chr2:209055448-209055449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34082227	chr2:209055449-209055450	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs182515438	chr2:209055460-209055461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530138315	chr2:209055493-209055494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540253203	chr2:209055496-209055497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187226540	chr2:209055574-209055575	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs9646836	chr2:209055610-209055611	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs556734259	chr2:209055655-209055656	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs532471453	chr2:209055668-209055669	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs576617441	chr2:209055683-209055684	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209040000-209064000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:209051200-209055200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:209051800-209055400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:209052000-209054400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:209052000-209054400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:209052400-209054400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:209052800-209054400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:209052800-209055000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:209053400-209056000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:209053600-209055000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:209053800-209054800	Flanking Active TSS	Fetal Brain Male	brain
12	chr2:209053800-209054800	Active TSS	Fetal Brain Female	brain
13	chr2:209054000-209054400	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr2:209054000-209054800	Active TSS	Brain Hippocampus Middle	brain
15	chr2:209054200-209054400	Flanking Active TSS	Brain Angular Gyrus	brain
16	chr2:209054200-209054400	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr2:209054200-209054400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr2:209054200-209054400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:209054200-209054800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr2:209054200-209054800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:209054200-209055000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:209054200-209055000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:209054200-209055200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:209054200-209055200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr2:209054200-209055800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr2:209054400-209054600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
27	chr2:209054400-209054600	Active TSS	Brain Germinal Matrix	brain
28	chr2:209054400-209054800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr2:209054400-209054800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr2:209054400-209054800	Active TSS	Brain Anterior Caudate	brain
31	chr2:209054400-209054800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:209054400-209055000	Active TSS	Brain Angular Gyrus	brain
33	chr2:209054400-209055000	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr2:209054400-209055200	Enhancers	H9 Cell Line	embryonic stem cell
35	chr2:209054400-209056000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr2:209054600-209054800	Active TSS	Brain Cingulate Gyrus	brain
37	chr2:209054600-209054800	Flanking Active TSS	Brain Germinal Matrix	brain
38	chr2:209054800-209055000	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr2:209054800-209055000	Active TSS	Brain Germinal Matrix	brain
40	chr2:209054800-209055000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:209054800-209055200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:209054800-209055200	Flanking Active TSS	Fetal Brain Female	brain
43	chr2:209054800-209056000	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr2:209054800-209056200	Enhancers	Fetal Brain Male	brain
45	chr2:209055000-209055200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:209055000-209055200	Enhancers	Brain Angular Gyrus	brain
47	chr2:209055000-209055200	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr2:209055000-209056200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:209055000-209061000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:209055200-209055400	Enhancers	Brain Germinal Matrix	brain

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