Variant report

Variant	esv1822999
Chromosome Location	chr1:246681116-246687763
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:246683706-246683740	GM10266	blood:	n/a	n/a
2	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	chr1:246684329-246684379	HCF	heart:	n/a
2	chr1:246684113-246684163	GM12891	blood:	n/a
3	chr1:246684113-246684163	Hepatocyte	liver:	n/a
4	chr1:246684113-246684163	NB4	blood:	n/a
5	chr1:246684329-246684379	K562	blood:	n/a
6	chr1:246684113-246684163	SKMC	muscle:	n/a
7	chr1:246684329-246684379	AG09309	skin:	n/a
8	chr1:246684329-246684379	Jurkat	blood:	n/a
9	chr1:246684329-246684379	SAEC	small airway:	n/a
10	chr1:246684113-246684163	MCF-7	breast:	n/a
11	chr1:246684329-246684379	BE2_C	brain:	n/a
12	chr1:246684329-246684379	ovcar-3	ovarian:	n/a
13	chr1:246684113-246684163	Jurkat	blood:	n/a
14	chr1:246684113-246684163	SAEC	small airway:	n/a
15	chr1:246684113-246684163	HRPEpiC	eye:	n/a
16	chr1:246684329-246684379	HEEpiC	esophagus:	n/a
17	chr1:246684113-246684163	IMR90	lung:	fetal
18	chr1:246684329-246684379	HRPEpiC	eye:	n/a
19	chr1:246684329-246684379	H1-hESC	embryonic stem cell:	embryo
20	chr1:246684113-246684163	ovcar-3	ovarian:	n/a
21	chr1:246684329-246684379	RPTEC	kidney:	n/a
22	chr1:246684329-246684379	ECC-1	luminal epithelium:	n/a
23	chr1:246684329-246684379	MCF-7	breast:	n/a
24	chr1:246684329-246684379	HPAEpiC	pulmonary alveolar:	n/a
25	chr1:246684329-246684379	PANC-1	pancreas:	n/a
26	chr1:246684113-246684163	HAEpiC	amniotic membrane:	n/a
27	chr1:246684113-246684163	GM12878	blood:	n/a
28	chr1:246684113-246684163	HCM	heart:	n/a
29	chr1:246684329-246684379	AG04449	skin:	fetal
30	chr1:246684113-246684163	LNCaP	prostate:	n/a
31	chr1:246684113-246684163	HEK293	kidney:	embryo
32	chr1:246684113-246684163	ProgFib	skin:	n/a
33	chr1:246684329-246684379	HUVEC	blood vessel:	n/a
34	chr1:246684113-246684163	HCPEpiC	choroid plexus:	n/a
35	chr1:246684113-246684163	HMEC	breast:	n/a
36	chr1:246684113-246684163	HL-60	blood:	n/a
37	chr1:246684329-246684379	GM06990	blood:	n/a
38	chr1:246684113-246684163	NHBE	bronchial:	n/a
39	chr1:246684113-246684163	HRCEpiC	kidney:	n/a
40	chr1:246684329-246684379	A549	lung:	n/a
41	chr1:246684329-246684379	GM12891	blood:	n/a
42	chr1:246684329-246684379	AG09319	gingival:	n/a
43	chr1:246684329-246684379	HepG2	liver:	n/a
44	chr1:246684329-246684379	AoSMC	blood vessel:	n/a
45	chr1:246684113-246684163	AG09309	skin:	n/a
46	chr1:246684113-246684163	AG04450	lung:	fetal
47	chr1:246684329-246684379	PFSK-1	brain:	n/a
48	chr1:246684329-246684379	NB4	blood:	n/a
49	chr1:246684113-246684163	PANC-1	pancreas:	n/a
50	chr1:246684113-246684163	NT2-D1	testis:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:246680075..246681714-chr1:246684033..246686969,2	K562	blood:
2	chr1:246685591..246688881-chr1:246727054..246730014,3	K562	blood:
3	chr1:246679194..246683104-chr1:246689621..246693878,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000227728	TF binding region
ENSG00000242042	TF binding region
ENSG00000230813	TF binding region
ENSG00000227728	CpG island
ENSG00000242042	CpG island
ENSG00000230813	CpG island
ENSG00000230813	chromatin interactions
ENSG00000162852	chromatin interactions
ENSG00000229112	chromatin interactions
ENSG00000227728	chromatin interactions
ENSG00000162851	chromatin interactions

Extended variants
information (count: 230 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:230 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10924763	chr1:246681116-246681117	ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs369597141	chr1:246681119-246681120	ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs143457430	chr1:246681128-246681129	ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs535932498	chr1:246681139-246681140	ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs41305957	chr1:246681140-246681141	ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs116776022	chr1:246681164-246681165	ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs529102992	chr1:246681165-246681166	ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs544639106	chr1:246681186-246681187	ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs61512751	chr1:246681239-246681240	ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs550864042	chr1:246681244-246681245	ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs578201830	chr1:246681269-246681270	ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs555106013	chr1:246681306-246681307	ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs368258918	chr1:246681341-246681342	ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs12075899	chr1:246681349-246681350	ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs529560187	chr1:246681377-246681378	ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs543124816	chr1:246681383-246681384	ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs540648958	chr1:246681388-246681389	ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs372945526	chr1:246681423-246681424	ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs12096478	chr1:246681451-246681452	ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs373898957	chr1:246681456-246681457	ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs61839849	chr1:246681493-246681494	ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs7529776	chr1:246681494-246681495	ZNF genes & repeats Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs58090432	chr1:246681604-246681605	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs111894375	chr1:246681647-246681648	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs372846801	chr1:246681667-246681668	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs78167247	chr1:246681707-246681708	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs548327498	chr1:246681719-246681720	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs536069117	chr1:246681728-246681729	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs185095950	chr1:246681818-246681819	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs559837003	chr1:246681829-246681830	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs3129582	chr1:246681865-246681866	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs538216338	chr1:246681877-246681878	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs150600263	chr1:246681912-246681913	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs527351245	chr1:246681917-246681918	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs569146176	chr1:246681918-246681919	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs10924764	chr1:246681921-246681922	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs574272278	chr1:246681935-246681936	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs570426187	chr1:246681936-246681937	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs139972239	chr1:246681946-246681947	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs559858034	chr1:246681947-246681948	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs573378741	chr1:246681962-246681963	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs141779812	chr1:246681997-246681998	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs374134155	chr1:246681999-246682000	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs190879418	chr1:246682000-246682001	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs61839851	chr1:246682027-246682028	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs550578056	chr1:246682028-246682029	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs550058464	chr1:246682033-246682034	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs146232206	chr1:246682063-246682064	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs529804409	chr1:246682078-246682079	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs114081353	chr1:246682139-246682140	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246680200-246682400	Weak transcription	Right Atrium	heart
2	chr1:246680600-246683000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:246681600-246681800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:246685400-246685600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:246685600-246687600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:246686200-246686400	Bivalent Enhancer	HepG2	liver
7	chr1:246687400-246687600	Bivalent Enhancer	HepG2	liver
8	chr1:246687600-246687800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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