Variant report

Variant	esv1821847
Chromosome Location	chr1:246684066-246687586
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:246685009-246685072	LNCaP	prostate:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:246684113-246684163	HEEpiC	esophagus:	n/a
2	chr1:246684113-246684163	PrEC	prostate:	n/a
3	chr1:246684113-246684163	A549	lung:	n/a
4	chr1:246684329-246684379	T-47D	breast:	n/a
5	chr1:246684329-246684379	GM12878	blood:	n/a
6	chr1:246684329-246684379	HCF	heart:	n/a
7	chr1:246684329-246684379	ECC-1	luminal epithelium:	n/a
8	chr1:246684329-246684379	PFSK-1	brain:	n/a
9	chr1:246684113-246684163	NHDF-neo	bronchial:	n/a
10	chr1:246684113-246684163	IMR90	lung:	fetal
11	chr1:246684113-246684163	ECC-1	luminal epithelium:	n/a
12	chr1:246684329-246684379	PrEC	prostate:	n/a
13	chr1:246684329-246684379	GM06990	blood:	n/a
14	chr1:246684329-246684379	SKMC	muscle:	n/a
15	chr1:246684113-246684163	HCM	heart:	n/a
16	chr1:246684113-246684163	HL-60	blood:	n/a
17	chr1:246684113-246684163	SAEC	small airway:	n/a
18	chr1:246684329-246684379	PANC-1	pancreas:	n/a
19	chr1:246684329-246684379	IMR90	lung:	fetal
20	chr1:246684329-246684379	HCM	heart:	n/a
21	chr1:246684329-246684379	Hela-S3	cervix:	n/a
22	chr1:246684113-246684163	GM12892	blood:	n/a
23	chr1:246684113-246684163	SK-N-MC	brain:	n/a
24	chr1:246684329-246684379	MCF-7	breast:	n/a
25	chr1:246684113-246684163	HCPEpiC	choroid plexus:	n/a
26	chr1:246684329-246684379	AG09319	gingival:	n/a
27	chr1:246684329-246684379	RPTEC	kidney:	n/a
28	chr1:246684329-246684379	HRPEpiC	eye:	n/a
29	chr1:246684329-246684379	HRCEpiC	kidney:	n/a
30	chr1:246684329-246684379	LNCaP	prostate:	n/a
31	chr1:246684113-246684163	T-47D	breast:	n/a
32	chr1:246684113-246684163	K562	blood:	n/a
33	chr1:246684113-246684163	GM19239	blood:	n/a
34	chr1:246684329-246684379	Hepatocyte	liver:	n/a
35	chr1:246684113-246684163	BE2_C	brain:	n/a
36	chr1:246684329-246684379	K562	blood:	n/a
37	chr1:246684329-246684379	BE2_C	brain:	n/a
38	chr1:246684329-246684379	ovcar-3	ovarian:	n/a
39	chr1:246684329-246684379	U87	brain:	n/a
40	chr1:246684113-246684163	HUVEC	blood vessel:	n/a
41	chr1:246684113-246684163	Hela-S3	cervix:	n/a
42	chr1:246684113-246684163	HMEC	breast:	n/a
43	chr1:246684113-246684163	MCF10A-Er-Src	breast:	n/a
44	chr1:246684329-246684379	HIPEpiC	eye:	n/a
45	chr1:246684113-246684163	HAEpiC	amniotic membrane:	n/a
46	chr1:246684329-246684379	HRE	kidney:	n/a
47	chr1:246684329-246684379	A549	lung:	n/a
48	chr1:246684329-246684379	GM12892	blood:	n/a
49	chr1:246684113-246684163	Hepatocyte	liver:	n/a
50	chr1:246684113-246684163	AG10803	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:246685591..246688881-chr1:246727054..246730014,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000227728	TF binding region
ENSG00000230813	TF binding region
ENSG00000227728	CpG island
ENSG00000230813	CpG island
ENSG00000162851	chromatin interactions
ENSG00000162852	chromatin interactions

Extended variants
information (count: 118 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555614745	chr1:246685426-246685427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs72760875	chr1:246685440-246685441	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs72760876	chr1:246685482-246685483	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs148117683	chr1:246685494-246685495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs369439605	chr1:246685513-246685514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs533619646	chr1:246685518-246685519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs543912451	chr1:246685523-246685524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs141878117	chr1:246685533-246685534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs529268803	chr1:246685593-246685594	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs549418685	chr1:246685614-246685615	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs559646305	chr1:246685620-246685621	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs193101423	chr1:246685630-246685631	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs72760877	chr1:246685639-246685640	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs551387074	chr1:246685640-246685641	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs571332364	chr1:246685653-246685654	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs537289294	chr1:246685680-246685681	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs368375141	chr1:246685738-246685739	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs550229259	chr1:246685753-246685754	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs78225800	chr1:246685759-246685760	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs555502662	chr1:246685778-246685779	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs185277974	chr1:246685781-246685782	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs78525700	chr1:246685798-246685799	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs72760878	chr1:246685799-246685800	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs199925141	chr1:246685845-246685846	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs3129584	chr1:246685849-246685850	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs147246508	chr1:246685864-246685865	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs578098917	chr1:246685869-246685870	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs79744919	chr1:246685876-246685877	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs75703047	chr1:246685888-246685889	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs574191386	chr1:246685910-246685911	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs543185730	chr1:246685925-246685926	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs559484731	chr1:246685940-246685941	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs528516291	chr1:246685944-246685945	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs114596334	chr1:246685983-246685984	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs566444051	chr1:246685985-246685986	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs530593542	chr1:246686028-246686029	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs550366520	chr1:246686033-246686034	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs566980010	chr1:246686048-246686049	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs544970912	chr1:246686053-246686054	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs535932415	chr1:246686054-246686055	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs546333143	chr1:246686104-246686105	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs4654279	chr1:246686111-246686112	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs572593101	chr1:246686116-246686117	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs140672851	chr1:246686135-246686136	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs578212066	chr1:246686136-246686137	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs12127658	chr1:246686171-246686172	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs549135163	chr1:246686173-246686174	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs188538245	chr1:246686188-246686189	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs144611477	chr1:246686202-246686203	Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs543122791	chr1:246686214-246686215	Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	19805367	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246685400-246685600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:246685600-246687600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:246686200-246686400	Bivalent Enhancer	HepG2	liver
4	chr1:246687400-246687600	Bivalent Enhancer	HepG2	liver

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