Variant report

Variant	esv1795677
Chromosome Location	chr1:152175970-152183601
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr1:152183112-152183231	SH-SY5Y	brain:	n/a	n/a
2	POLR2A	chr1:152181596-152181796	K562	blood:	n/a	n/a
3	POLR2A	chr1:152182791-152182894	Gliobla	brain:	n/a	n/a
4	POLR2A	chr1:152179029-152179111	K562	blood:	n/a	n/a
5	POLR2A	chr1:152180603-152180875	K562	blood:	n/a	n/a
6	POLR2A	chr1:152180031-152180393	K562	blood:	n/a	n/a
7	POLR2A	chr1:152178471-152178473	K562	blood:	n/a	n/a
8	POLR2A	chr1:152178056-152178249	K562	blood:	n/a	n/a
9	POLR2A	chr1:152179506-152179616	K562	blood:	n/a	n/a
10	STAT3	chr1:152178238-152178456	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:152183562-152183612	HAEpiC	amniotic membrane:	n/a
2	chr1:152183562-152183612	HCPEpiC	choroid plexus:	n/a
3	chr1:152183562-152183612	GM06990	blood:	n/a
4	chr1:152183562-152183612	HRE	kidney:	n/a
5	chr1:152183562-152183612	HCT-116	colon:	n/a
6	chr1:152183562-152183612	SKMC	muscle:	n/a
7	chr1:152183562-152183612	SK-N-SH_RA	brain:	n/a
8	chr1:152183562-152183612	IMR90	lung:	fetal
9	chr1:152183562-152183612	ProgFib	skin:	n/a
10	chr1:152183562-152183612	AG09309	skin:	n/a
11	chr1:152183562-152183612	HepG2	liver:	n/a
12	chr1:152183562-152183612	NHDF-neo	bronchial:	n/a
13	chr1:152183562-152183612	PANC-1	pancreas:	n/a
14	chr1:152183562-152183612	GM19239	blood:	n/a
15	chr1:152183562-152183612	H1-hESC	embryonic stem cell:	embryo
16	chr1:152183562-152183612	HEK293	kidney:	embryo
17	chr1:152183562-152183612	NB4	blood:	n/a
18	chr1:152183562-152183612	HUVEC	blood vessel:	n/a
19	chr1:152183562-152183612	AG09319	gingival:	n/a
20	chr1:152183562-152183612	HRPEpiC	eye:	n/a
21	chr1:152183562-152183612	ECC-1	luminal epithelium:	n/a
22	chr1:152183562-152183612	AG04449	skin:	fetal
23	chr1:152183562-152183612	HCM	heart:	n/a
24	chr1:152183562-152183612	RPTEC	kidney:	n/a
25	chr1:152183562-152183612	HRCEpiC	kidney:	n/a
26	chr1:152183562-152183612	GM12878	blood:	n/a
27	chr1:152183562-152183612	Hepatocyte	liver:	n/a
28	chr1:152183562-152183612	MCF10A-Er-Src	breast:	n/a
29	chr1:152183562-152183612	T-47D	breast:	n/a
30	chr1:152183562-152183612	HL-60	blood:	n/a
31	chr1:152183562-152183612	HIPEpiC	eye:	n/a
32	chr1:152183562-152183612	AG04450	lung:	fetal
33	chr1:152183562-152183612	SAEC	small airway:	n/a
34	chr1:152183562-152183612	MCF-7	breast:	n/a
35	chr1:152183562-152183612	GM12892	blood:	n/a
36	chr1:152183562-152183612	AG10803	skin:	n/a
37	chr1:152183562-152183612	NHBE	bronchial:	n/a
38	chr1:152183562-152183612	ovcar-3	ovarian:	n/a
39	chr1:152183562-152183612	NH-A	brain:	n/a
40	chr1:152183562-152183612	HCF	heart:	n/a
41	chr1:152183562-152183612	CMK	blood:	n/a
42	chr1:152183562-152183612	K562	blood:	n/a
43	chr1:152183562-152183612	A549	lung:	n/a
44	chr1:152183562-152183612	HEEpiC	esophagus:	n/a
45	chr1:152183562-152183612	HMEC	breast:	n/a
46	chr1:152183562-152183612	Hela-S3	cervix:	n/a
47	chr1:152183562-152183612	HPAEpiC	pulmonary alveolar:	n/a
48	chr1:152183562-152183612	BE2_C	brain:	n/a
49	chr1:152183562-152183612	HNPCEpiC	eye:	n/a
50	chr1:152183562-152183612	U87	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:152179245..152182168-chr1:152419256..152421310,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LCE5A-3	chr1:152179335-152179533	ENSG00000236427.1
2	lnc-LCE5A-3	chr1:152177537-152178552	NONHSAT006473
3	lnc-LCE5A-3	chr1:152179335-152179658	NONHSAT006473
4	lnc-LCE5A-3	chr1:152178334-152178531	ENSG00000236427.1

No data

Variant related genes	Relation type
ENSG00000236427	TF binding region
ENSG00000236427	CpG island

Extended variants
information (count: 278 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11588174	chr1:152175970-152175971	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs547303454	chr1:152175973-152175974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145938672	chr1:152176033-152176034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4456098	chr1:152176034-152176035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs140201862	chr1:152176065-152176066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569173445	chr1:152176085-152176086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538311168	chr1:152176163-152176164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551464696	chr1:152176188-152176189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571071840	chr1:152176205-152176206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192908248	chr1:152176209-152176210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553650954	chr1:152176211-152176212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184781399	chr1:152176229-152176230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188607642	chr1:152176257-152176258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536169531	chr1:152176294-152176295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75988422	chr1:152176327-152176328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75364917	chr1:152176347-152176348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545046102	chr1:152176354-152176355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12063165	chr1:152176357-152176358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs7533044	chr1:152176397-152176398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151307491	chr1:152176482-152176483	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs540857140	chr1:152176483-152176484	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs56013982	chr1:152176503-152176504	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs11589532	chr1:152176539-152176540	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs569032709	chr1:152176571-152176572	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs184998388	chr1:152176581-152176582	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs562854942	chr1:152176604-152176605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531618466	chr1:152176638-152176639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370919694	chr1:152176679-152176680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551454638	chr1:152176692-152176693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188345906	chr1:152176695-152176696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7533405	chr1:152176716-152176717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11357567	chr1:152176724-152176725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552841206	chr1:152176725-152176726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397863252	chr1:152176738-152176739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61814927	chr1:152176740-152176741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61814928	chr1:152176769-152176770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs567368348	chr1:152176806-152176807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536497960	chr1:152176822-152176823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71585887	chr1:152176848-152176849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7531094	chr1:152176850-152176851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs538300810	chr1:152176866-152176867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7533529	chr1:152176871-152176872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs572204623	chr1:152176927-152176928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541143457	chr1:152176942-152176943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182364187	chr1:152176952-152176953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574156900	chr1:152177047-152177048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs878649	chr1:152177086-152177087	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs563080723	chr1:152177090-152177091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570720946	chr1:152177143-152177144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566275848	chr1:152177144-152177145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
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	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
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152162200-152180200	Weak transcription	Ovary	ovary
2	chr1:152164400-152178400	Weak transcription	Esophagus	oesophagus
3	chr1:152171800-152178000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:152173000-152180200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:152174600-152176400	Weak transcription	Aorta	Aorta
6	chr1:152176400-152176600	ZNF genes & repeats	Aorta	Aorta
7	chr1:152178000-152180000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:152178200-152178600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:152178200-152179000	Enhancers	Fetal Heart	heart
10	chr1:152178400-152179000	Enhancers	Esophagus	oesophagus
11	chr1:152178400-152179000	Enhancers	Right Ventricle	heart
12	chr1:152178600-152179000	Enhancers	Left Ventricle	heart
13	chr1:152178600-152184200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:152179000-152179400	Weak transcription	Fetal Heart	heart

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