Variant report

Variant	esv1826754
Chromosome Location	chr1:147372644-147382723
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:793)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr1:147376853-147377213	GM12878	blood:	n/a	n/a
2	BATF	chr1:147376945-147377173	GM12878	blood:	n/a	n/a
3	CTCF	chr1:147372560-147372710	HRE	kidney:	n/a	n/a
4	E2F4	chr1:147373388-147373588	MCF10A-Er-Src	breast:	n/a	n/a
5	E2F6	chr1:147380193-147380506	K562	blood:	n/a	n/a
6	FOS	chr1:147376347-147376369	MCF10A-Er-Src	breast:	n/a	n/a
7	MAFK	chr1:147382313-147382475	HepG2	liver:	n/a	n/a
8	MAX	chr1:147380127-147380554	K562	blood:	n/a	n/a
9	MAX	chr1:147377415-147377629	NB4	blood:	n/a	chr1:147377513-147377523
10	MAX	chr1:147380236-147380459	K562	blood:	n/a	n/a
11	MAX	chr1:147380233-147380420	K562	blood:	n/a	n/a
12	MAZ	chr1:147374717-147374723	GM12878	blood:	n/a	n/a
13	MYC	chr1:147380231-147380341	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr1:147380318-147380326	MCF-7	breast:	n/a	n/a
15	POLR2A	chr1:147380193-147380316	MCF-7	breast:	n/a	n/a
16	POLR2A	chr1:147381843-147381906	GM12878	blood:	n/a	n/a
17	RUNX3	chr1:147376861-147377140	GM12878	blood:	n/a	n/a
18	RUNX3	chr1:147376843-147377178	GM12878	blood:	n/a	n/a
19	SRF	chr1:147376297-147376640	ECC-1	luminal epithelium:	n/a	chr1:147376610-147376624 chr1:147376607-147376624 chr1:147376604-147376621 chr1:147376611-147376625 chr1:147376607-147376621 chr1:147376609-147376622 chr1:147376609-147376622 chr1:147376606-147376620 chr1:147376608-147376623 chr1:147376606-147376624 chr1:147376610-147376627 chr1:147376610-147376621 chr1:147376609-147376620 chr1:147376611-147376620 chr1:147376611-147376622 chr1:147376607-147376625
20	ZC3H11A	chr1:147374360-147374369	K562	blood:	n/a	n/a
21	ZNF263	chr1:147377901-147378282	HEK293-T-REx	kidney:	n/a	n/a
22	ZNF384	chr1:147374064-147374069	K562	blood:	n/a	n/a

(count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:147380211-147380261	HNPCEpiC	eye:	n/a
2	chr1:147373572-147373622	NH-A	brain:	n/a
3	chr1:147374938-147374988	SK-N-SH	brain:	n/a
4	chr1:147381390-147381440	AoSMC	blood vessel:	n/a
5	chr1:147374967-147375017	GM06990	blood:	n/a
6	chr1:147379676-147379726	SK-N-SH	brain:	n/a
7	chr1:147374589-147374639	RPTEC	kidney:	n/a
8	chr1:147374589-147374639	AG09309	skin:	n/a
9	chr1:147379964-147380014	HPAEpiC	pulmonary alveolar:	n/a
10	chr1:147380398-147380448	GM12892	blood:	n/a
11	chr1:147379964-147380014	GM12878	blood:	n/a
12	chr1:147373572-147373622	HNPCEpiC	eye:	n/a
13	chr1:147380398-147380448	HAEpiC	amniotic membrane:	n/a
14	chr1:147380038-147380088	ovcar-3	ovarian:	n/a
15	chr1:147374589-147374639	BJ	skin:	n/a
16	chr1:147373572-147373622	IMR90	lung:	fetal
17	chr1:147379964-147380014	GM12891	blood:	n/a
18	chr1:147379964-147380014	SKMC	muscle:	n/a
19	chr1:147374847-147374897	ECC-1	luminal epithelium:	n/a
20	chr1:147380398-147380448	RPTEC	kidney:	n/a
21	chr1:147380211-147380261	CMK	blood:	n/a
22	chr1:147380445-147380495	HPAEpiC	pulmonary alveolar:	n/a
23	chr1:147373572-147373622	Hela-S3	cervix:	n/a
24	chr1:147380211-147380261	NHBE	bronchial:	n/a
25	chr1:147380211-147380261	BJ	skin:	n/a
26	chr1:147380334-147380384	Caco-2	colon:	n/a
27	chr1:147380038-147380088	HCPEpiC	choroid plexus:	n/a
28	chr1:147380445-147380495	HAEpiC	amniotic membrane:	n/a
29	chr1:147379676-147379726	AG09309	skin:	n/a
30	chr1:147380398-147380448	U87	brain:	n/a
31	chr1:147380211-147380261	HCT-116	colon:	n/a
32	chr1:147380211-147380261	HCM	heart:	n/a
33	chr1:147380211-147380261	GM19239	blood:	n/a
34	chr1:147380211-147380261	NHDF-neo	bronchial:	n/a
35	chr1:147374847-147374897	HRPEpiC	eye:	n/a
36	chr1:147374589-147374639	HCPEpiC	choroid plexus:	n/a
37	chr1:147379676-147379726	NT2-D1	testis:	n/a
38	chr1:147380445-147380495	HIPEpiC	eye:	n/a
39	chr1:147374589-147374639	HNPCEpiC	eye:	n/a
40	chr1:147380398-147380448	GM12878	blood:	n/a
41	chr1:147380038-147380088	K562	blood:	n/a
42	chr1:147373572-147373622	NB4	blood:	n/a
43	chr1:147381390-147381440	HRPEpiC	eye:	n/a
44	chr1:147374589-147374639	SAEC	small airway:	n/a
45	chr1:147380398-147380448	MCF10A-Er-Src	breast:	n/a
46	chr1:147380211-147380261	HMEC	breast:	n/a
47	chr1:147374847-147374897	Caco-2	colon:	n/a
48	chr1:147374589-147374639	HCM	heart:	n/a
49	chr1:147374967-147375017	Hela-S3	cervix:	n/a
50	chr1:147381390-147381440	NHBE	bronchial:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:147373212..147375085-chr1:147375967..147378614,2	K562	blood:
2	chr1:147377584..147379457-chr1:147380661..147382307,2	K562	blood:
3	chr1:147374824..147376711-chr1:147380233..147381770,2	K562	blood:
4	chr1:147377584..147379457-chr1:147380661..147382307,2	K562	blood:
5	chr1:147377360..147379404-chr1:147393843..147396481,2	MCF-7	breast:
6	chr1:147381518..147385211-chr1:147394468..147398390,4	MCF-7	breast:
7	chr1:147374326..147376693-chr1:147380910..147382791,2	MCF-7	breast:
8	chr1:147368859..147371195-chr1:147375961..147377852,2	MCF-7	breast:
9	chr1:147374166..147376711-chr1:147380233..147382659,2	K562	blood:
10	chr1:147380965..147383476-chr1:147385560..147388569,3	K562	blood:
11	chr1:147376062..147379457-chr1:147384992..147386652,3	K562	blood:

No data

Variant related genes	Relation type
GJA8	TF binding region
GJA8	CpG island
ENSG00000121634	chromatin interactions

Extended variants
information (count: 402 )
Associated
traits (count: 148 )

Variant overlapped rSNPs/rCNVs (count:402 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587661596	chr1:147372672-147372673	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs587749363	chr1:147372674-147372675	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs150582227	chr1:147372675-147372676	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs17160770	chr1:147372771-147372772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113950555	chr1:147372803-147372804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs587652167	chr1:147372806-147372807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144548783	chr1:147372847-147372848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs587774506	chr1:147372850-147372851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139352345	chr1:147372888-147372889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs587693156	chr1:147372922-147372923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs587749557	chr1:147372951-147372952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs55940621	chr1:147372962-147372963	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs587706292	chr1:147373014-147373015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs80030090	chr1:147373066-147373067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs587657008	chr1:147373076-147373077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs61810426	chr1:147373100-147373101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs587607065	chr1:147373130-147373131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373764160	chr1:147373131-147373132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs587670168	chr1:147373174-147373175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116033770	chr1:147373247-147373248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187375043	chr1:147373269-147373270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190937565	chr1:147373293-147373294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182641382	chr1:147373331-147373332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185473473	chr1:147373369-147373370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28625021	chr1:147373384-147373385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375877969	chr1:147373418-147373419	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs61810427	chr1:147373421-147373422	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs9437981	chr1:147373447-147373448	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs79975908	chr1:147373462-147373463	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs189989621	chr1:147373463-147373464	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs587744696	chr1:147373489-147373490	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs587648535	chr1:147373501-147373502	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs73013238	chr1:147373506-147373507	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs587759883	chr1:147373539-147373540	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs144035797	chr1:147373572-147373573	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs76968846	chr1:147373573-147373574	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs182928624	chr1:147373584-147373585	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs587635195	chr1:147373602-147373603	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs587721215	chr1:147373632-147373633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187480414	chr1:147373668-147373669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75377783	chr1:147373687-147373688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs587727851	chr1:147373744-147373745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146463632	chr1:147373754-147373755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28761770	chr1:147373805-147373806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs193154434	chr1:147373913-147373914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184072143	chr1:147373924-147373925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188902009	chr1:147373928-147373929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7519219	chr1:147373958-147373959	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs192337084	chr1:147373967-147373968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138145409	chr1:147374012-147374013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:148)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	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
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	20369283	CNVD
Oral cancer	21386901	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
early-passage human iPS cells	21368824	CNVD
Obesity	21131291	CNVD
Melanoma	21430779	CNVD
Cancer	21272361	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Neuroblastoma	19536264	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:147363400-147374600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:147370000-147374600	Weak transcription	Right Atrium	heart
3	chr1:147370400-147374400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:147374200-147374400	Enhancers	Fetal Muscle Leg	muscle
5	chr1:147374400-147374800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:147374400-147374800	Enhancers	K562	blood
7	chr1:147374600-147375000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:147374800-147377200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:147375000-147380200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:147376400-147377600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:147376800-147377200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr1:147376800-147377600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:147377200-147378400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:147378000-147378200	Enhancers	Fetal Muscle Trunk	muscle
15	chr1:147380000-147380400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:147380000-147380400	Enhancers	Esophagus	oesophagus
17	chr1:147380200-147380400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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