Variant report

Variant	esv2762553
Chromosome Location	chr2:48843520-48863842
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:103)
CpG islands
(count:672)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:103 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:48850023-48850151	K562	blood:	n/a	n/a
2	CCNT2	chr2:48860293-48860625	K562	blood:	n/a	n/a
3	CEBPB	chr2:48862820-48862911	IMR90	lung:	n/a	n/a
4	CEBPB	chr2:48846758-48846809	A549	lung:	n/a	chr2:48846764-48846777
5	CEBPB	chr2:48850005-48850195	K562	blood:	n/a	n/a
6	CEBPD	chr2:48860331-48860701	K562	blood:	n/a	n/a
7	CEBPD	chr2:48860224-48860663	K562	blood:	n/a	n/a
8	CHD1	chr2:48861003-48861083	GM12878	blood:	n/a	n/a
9	CTCF	chr2:48862000-48862150	GM12864	blood:	n/a	n/a
10	CTCF	chr2:48850000-48850150	MCF-7	breast:	n/a	chr2:48850043-48850064
11	CTCF	chr2:48849965-48850148	Medullo	brain:	n/a	chr2:48850043-48850064
12	CTCF	chr2:48850020-48850170	MCF-7	breast:	n/a	chr2:48850043-48850064
13	CTCF	chr2:48849922-48850203	IMR90	lung:	n/a	chr2:48850043-48850064
14	CTCF	chr2:48849990-48850128	LNCaP	prostate:	n/a	chr2:48850043-48850064
15	CTCF	chr2:48849940-48850090	AG10803	skin:	n/a	chr2:48850043-48850064
16	CTCF	chr2:48849980-48850130	AG09319	gingival:	n/a	chr2:48850043-48850064
17	CTCF	chr2:48849900-48850050	AoAF	blood vessel:	n/a	n/a
18	CTCF	chr2:48849878-48850195	GM12878	blood:	n/a	chr2:48850043-48850064
19	CTCF	chr2:48850000-48850150	NHDF-neo	bronchial:	n/a	chr2:48850043-48850064
20	CTCF	chr2:48850000-48850150	HMF	breast:	n/a	chr2:48850043-48850064
21	CTCF	chr2:48849980-48850130	HCFaa	heart:	n/a	chr2:48850043-48850064
22	CTCF	chr2:48849810-48850318	A549	lung:	n/a	chr2:48850043-48850064
23	CTCF	chr2:48849911-48850219	MCF-7	breast:	n/a	chr2:48850043-48850064
24	CTCF	chr2:48862000-48862150	HepG2	liver:	n/a	n/a
25	CTCF	chr2:48849960-48850110	K562	blood:	n/a	chr2:48850043-48850064
26	CTCF	chr2:48849958-48850141	Hela-S3	cervix:	n/a	chr2:48850043-48850064
27	CTCF	chr2:48849980-48850130	Hela-S3	cervix:	n/a	chr2:48850043-48850064
28	CTCF	chr2:48849940-48850090	GM06990	blood:	n/a	chr2:48850043-48850064
29	CTCF	chr2:48849953-48850070	MCF-7	breast:	n/a	chr2:48850043-48850064
30	CTCF	chr2:48849862-48850247	K562	blood:	n/a	chr2:48850043-48850064
31	CTCF	chr2:48849980-48850130	AG10803	skin:	n/a	chr2:48850043-48850064
32	CTCF	chr2:48849920-48850070	AG09319	gingival:	n/a	chr2:48850043-48850064
33	CTCF	chr2:48849980-48850130	Caco-2	colon:	n/a	chr2:48850043-48850064
34	CTCF	chr2:48861940-48862090	GM12872	blood:	n/a	n/a
35	CTCF	chr2:48849980-48850130	SK-N-SH_RA	brain:	n/a	chr2:48850043-48850064
36	CTCF	chr2:48849971-48850115	LNCaP	prostate:	n/a	chr2:48850043-48850064
37	CTCF	chr2:48850060-48850210	K562	blood:	n/a	n/a
38	CTCF	chr2:48849940-48850090	HEK293	kidney:	n/a	chr2:48850043-48850064
39	CTCF	chr2:48849966-48850136	K562	blood:	n/a	chr2:48850043-48850064
40	CTCF	chr2:48849960-48850110	AG09309	skin:	n/a	chr2:48850043-48850064
41	CTCF	chr2:48850020-48850170	HepG2	liver:	n/a	chr2:48850043-48850064
42	CTCF	chr2:48862020-48862170	GM12870	blood:	n/a	n/a
43	CTCF	chr2:48863091-48863146	GM13976	blood:	n/a	n/a
44	CTCF	chr2:48849980-48850130	GM12865	blood:	n/a	chr2:48850043-48850064
45	CTCF	chr2:48861940-48862090	GM12873	blood:	n/a	n/a
46	EGR1	chr2:48860392-48860681	K562	blood:	n/a	n/a
47	EGR1	chr2:48860430-48860684	K562	blood:	n/a	n/a
48	EP300	chr2:48860367-48860629	K562	blood:	n/a	n/a
49	GABPA	chr2:48860392-48860634	K562	blood:	n/a	n/a
50	GABPA	chr2:48860356-48860548	K562	blood:	n/a	n/a

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:48844984-48845034	NT2-D1	testis:	n/a
2	chr2:48844984-48845034	NT2-D1	testis:	n/a
3	chr2:48844916-48844966	K562	blood:	n/a
4	chr2:48844195-48844245	SK-N-SH_RA	brain:	n/a
5	chr2:48844908-48844958	SK-N-MC	brain:	n/a
6	chr2:48844728-48844778	BJ	skin:	n/a
7	chr2:48848421-48848471	GM12892	blood:	n/a
8	chr2:48844195-48844245	NHBE	bronchial:	n/a
9	chr2:48844908-48844958	PrEC	prostate:	n/a
10	chr2:48844763-48844813	H1-hESC	embryonic stem cell:	embryo
11	chr2:48848421-48848471	IMR90	lung:	fetal
12	chr2:48843645-48843695	GM12892	blood:	n/a
13	chr2:48844728-48844778	GM12892	blood:	n/a
14	chr2:48844908-48844958	GM12891	blood:	n/a
15	chr2:48844916-48844966	GM12878	blood:	n/a
16	chr2:48844728-48844778	PrEC	prostate:	n/a
17	chr2:48843645-48843695	Jurkat	blood:	n/a
18	chr2:48848421-48848471	GM12891	blood:	n/a
19	chr2:48844892-48844942	HCM	heart:	n/a
20	chr2:48844892-48844942	BJ	skin:	n/a
21	chr2:48844916-48844966	HCT-116	colon:	n/a
22	chr2:48844728-48844778	HRPEpiC	eye:	n/a
23	chr2:48844916-48844966	HMEC	breast:	n/a
24	chr2:48845068-48845118	PFSK-1	brain:	n/a
25	chr2:48845068-48845118	NT2-D1	testis:	n/a
26	chr2:48848421-48848471	SKMC	muscle:	n/a
27	chr2:48843645-48843695	HCM	heart:	n/a
28	chr2:48844984-48845034	IMR90	lung:	fetal
29	chr2:48844195-48844245	AoSMC	blood vessel:	n/a
30	chr2:48848421-48848471	ovcar-3	ovarian:	n/a
31	chr2:48844892-48844942	NT2-D1	testis:	n/a
32	chr2:48844984-48845034	GM06990	blood:	n/a
33	chr2:48844892-48844942	T-47D	breast:	n/a
34	chr2:48844195-48844245	BE2_C	brain:	n/a
35	chr2:48844892-48844942	AG04450	lung:	fetal
36	chr2:48843645-48843695	A549	lung:	n/a
37	chr2:48844984-48845034	LNCaP	prostate:	n/a
38	chr2:48844971-48845021	SAEC	small airway:	n/a
39	chr2:48844892-48844942	CMK	blood:	n/a
40	chr2:48848421-48848471	ECC-1	luminal epithelium:	n/a
41	chr2:48844728-48844778	AoSMC	blood vessel:	n/a
42	chr2:48844971-48845021	NB4	blood:	n/a
43	chr2:48844908-48844958	HPAEpiC	pulmonary alveolar:	n/a
44	chr2:48848421-48848471	A549	lung:	n/a
45	chr2:48844763-48844813	K562	blood:	n/a
46	chr2:48843645-48843695	PrEC	prostate:	n/a
47	chr2:48844908-48844958	GM12878	blood:	n/a
48	chr2:48844728-48844778	GM12878	blood:	n/a
49	chr2:48844916-48844966	T-47D	breast:	n/a
50	chr2:48843645-48843695	HMEC	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:48837425..48839347-chr2:48846973..48850503,3	K562	blood:
2	chr2:48845784..48847693-chr2:48848992..48850627,2	K562	blood:
3	chr2:48845784..48847693-chr2:48848992..48850627,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LHCGR-1	chr2:48859995-48860492	NONHSAT070628
2	lnc-LHCGR-1	chr2:48859428-48860260	NONHSAT070627

No data

Variant related genes	Relation type
GTF2A1L	TF binding region
TPT1P11	TF binding region
GTF2A1L	CpG island
TPT1P11	CpG island

Extended variants
information (count: 938 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:938 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1464727	chr2:48843520-48843521	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552801678	chr2:48843534-48843535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113431861	chr2:48843552-48843553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143273376	chr2:48843569-48843570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192505048	chr2:48843599-48843600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532242302	chr2:48843606-48843607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541086177	chr2:48843613-48843614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs3811516	chr2:48843624-48843625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs530286869	chr2:48843646-48843647	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs548913268	chr2:48843703-48843704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569802373	chr2:48843707-48843708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148328362	chr2:48843716-48843717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113478976	chr2:48843770-48843771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552283392	chr2:48843828-48843829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147553588	chr2:48843829-48843830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184955627	chr2:48843838-48843839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570353536	chr2:48843852-48843853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534804434	chr2:48843885-48843886	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs112798535	chr2:48843894-48843895	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs561996246	chr2:48843911-48843912	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs568285657	chr2:48843915-48843916	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs116365219	chr2:48843922-48843923	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs565562098	chr2:48843942-48843943	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs534315722	chr2:48844010-48844011	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs552941829	chr2:48844036-48844037	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs536007599	chr2:48844052-48844053	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs554083960	chr2:48844061-48844062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189323962	chr2:48844076-48844077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180955729	chr2:48844078-48844079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1554613	chr2:48844102-48844103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs377314034	chr2:48844108-48844109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554888126	chr2:48844117-48844118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541147567	chr2:48844118-48844119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559456306	chr2:48844137-48844138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs80049195	chr2:48844195-48844196	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs147083367	chr2:48844213-48844214	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs138510075	chr2:48844228-48844229	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs144088153	chr2:48844239-48844240	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs11412435	chr2:48844286-48844287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573055686	chr2:48844287-48844288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552798220	chr2:48844298-48844299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564329110	chr2:48844307-48844308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370514893	chr2:48844331-48844332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543562064	chr2:48844338-48844339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373727040	chr2:48844339-48844340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565333991	chr2:48844352-48844353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189519013	chr2:48844370-48844371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568201255	chr2:48844401-48844402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536071225	chr2:48844406-48844407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539960260	chr2:48844413-48844414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48831000-48859600	Weak transcription	Ovary	ovary
2	chr2:48834800-48844800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:48836600-48862000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:48842600-48844800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:48843800-48844000	Enhancers	Gastric	stomach
6	chr2:48844800-48845000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:48844800-48845000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:48844800-48845400	Enhancers	Placenta	Placenta
9	chr2:48846800-48847000	Enhancers	Colon Smooth Muscle	Colon
10	chr2:48847000-48853000	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:48853000-48853400	ZNF genes & repeats	Colon Smooth Muscle	Colon
12	chr2:48853000-48854000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
13	chr2:48853400-48853800	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:48854000-48873600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:48859600-48860000	ZNF genes & repeats	Ovary	ovary
16	chr2:48860000-48862000	Weak transcription	Ovary	ovary
17	chr2:48860200-48860600	Enhancers	K562	blood
18	chr2:48860400-48860600	Enhancers	Lung	lung
19	chr2:48860400-48860600	ZNF genes & repeats	Right Atrium	heart
20	chr2:48860600-48862000	Weak transcription	Lung	lung
21	chr2:48860600-48863000	Weak transcription	Right Atrium	heart
22	chr2:48862000-48862200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:48862000-48862800	ZNF genes & repeats	Lung	lung
24	chr2:48862000-48863000	ZNF genes & repeats	Aorta	Aorta
25	chr2:48862000-48863000	Strong transcription	Stomach Smooth Muscle	stomach
26	chr2:48862000-48863200	Strong transcription	Ovary	ovary
27	chr2:48862200-48862600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:48862600-48863000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:48862600-48863400	Enhancers	Placenta Amnion	Placenta Amnion
30	chr2:48863000-48898200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr2:48863000-48919600	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:48863200-48873600	Weak transcription	Ovary	ovary

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