Variant report

Variant	esv33204
Chromosome Location	chr1:153410510-153418995
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:305)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr1:153414182-153414211	K562	blood:	n/a	n/a
2	BHLHE40	chr1:153414033-153414270	HepG2	liver:	n/a	n/a
3	CEBPB	chr1:153411861-153412014	K562	blood:	n/a	n/a
4	CTCF	chr1:153417520-153417540	GM13977	blood:	n/a	n/a
5	CTCF	chr1:153413520-153413670	HMEC	breast:	n/a	n/a
6	CTCF	chr1:153413505-153413634	NHEK	skin:	n/a	n/a
7	CTCF	chr1:153413455-153413685	K562	blood:	n/a	n/a
8	CTCF	chr1:153416537-153416575	Pancreas_OC	pancreas:	n/a	n/a
9	CTCF	chr1:153413480-153413630	HMEC	breast:	n/a	n/a
10	CTCF	chr1:153413557-153413577	K562	blood:	n/a	n/a
11	CTCF	chr1:153413532-153413607	MCF-7	breast:	n/a	n/a
12	CTCF	chr1:153417557-153417568	ProgFib	skin:	n/a	n/a
13	MYC	chr1:153417472-153417586	MCF-7	breast:	n/a	n/a
14	MYC	chr1:153417469-153417630	MCF-7	breast:	n/a	n/a
15	POLR2A	chr1:153417576-153417579	MCF-7	breast:	n/a	n/a
16	POLR2A	chr1:153417467-153417574	MCF-7	breast:	n/a	n/a
17	RAD21	chr1:153413433-153413815	MCF-7	breast:	n/a	chr1:153413573-153413592
18	REST	chr1:153417464-153417672	PANC-1	pancreas:	n/a	n/a
19	STAT3	chr1:153413775-153413824	MCF10A-Er-Src	breast:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:153413641-153413691	AG10803	skin:	n/a
2	chr1:153413641-153413691	Hepatocyte	liver:	n/a
3	chr1:153413871-153413921	GM19239	blood:	n/a
4	chr1:153413871-153413921	HRE	kidney:	n/a
5	chr1:153413932-153413982	SK-N-MC	brain:	n/a
6	chr1:153413871-153413921	T-47D	breast:	n/a
7	chr1:153413641-153413691	CMK	blood:	n/a
8	chr1:153413932-153413982	ProgFib	skin:	n/a
9	chr1:153410761-153410811	GM19239	blood:	n/a
10	chr1:153413932-153413982	T-47D	breast:	n/a
11	chr1:153410761-153410811	HRCEpiC	kidney:	n/a
12	chr1:153410761-153410811	AG10803	skin:	n/a
13	chr1:153410761-153410811	AG09309	skin:	n/a
14	chr1:153413932-153413982	HCPEpiC	choroid plexus:	n/a
15	chr1:153410761-153410811	HAEpiC	amniotic membrane:	n/a
16	chr1:153413641-153413691	BE2_C	brain:	n/a
17	chr1:153413641-153413691	GM12892	blood:	n/a
18	chr1:153410761-153410811	SK-N-SH_RA	brain:	n/a
19	chr1:153413871-153413921	NH-A	brain:	n/a
20	chr1:153413932-153413982	Hela-S3	cervix:	n/a
21	chr1:153413871-153413921	PANC-1	pancreas:	n/a
22	chr1:153410761-153410811	NB4	blood:	n/a
23	chr1:153413932-153413982	HEEpiC	esophagus:	n/a
24	chr1:153410761-153410811	GM12891	blood:	n/a
25	chr1:153413940-153413990	Caco-2	colon:	n/a
26	chr1:153413932-153413982	NH-A	brain:	n/a
27	chr1:153410761-153410811	HMEC	breast:	n/a
28	chr1:153413932-153413982	Jurkat	blood:	n/a
29	chr1:153413641-153413691	GM06990	blood:	n/a
30	chr1:153413940-153413990	HEEpiC	esophagus:	n/a
31	chr1:153413940-153413990	BE2_C	brain:	n/a
32	chr1:153413932-153413982	GM06990	blood:	n/a
33	chr1:153413940-153413990	HMEC	breast:	n/a
34	chr1:153413940-153413990	GM12892	blood:	n/a
35	chr1:153413940-153413990	HPAEpiC	pulmonary alveolar:	n/a
36	chr1:153413871-153413921	SAEC	small airway:	n/a
37	chr1:153413871-153413921	SK-N-SH_RA	brain:	n/a
38	chr1:153410761-153410811	U87	brain:	n/a
39	chr1:153413940-153413990	AG04450	lung:	fetal
40	chr1:153410761-153410811	MCF-7	breast:	n/a
41	chr1:153413940-153413990	AG09309	skin:	n/a
42	chr1:153413932-153413982	HL-60	blood:	n/a
43	chr1:153410761-153410811	A549	lung:	n/a
44	chr1:153413871-153413921	ProgFib	skin:	n/a
45	chr1:153413932-153413982	Caco-2	colon:	n/a
46	chr1:153413932-153413982	AG10803	skin:	n/a
47	chr1:153413932-153413982	ovcar-3	ovarian:	n/a
48	chr1:153413932-153413982	PrEC	prostate:	n/a
49	chr1:153413871-153413921	HPAEpiC	pulmonary alveolar:	n/a
50	chr1:153413932-153413982	BE2_C	brain:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153407654..153409258-chr1:153416471..153419018,2	K562	blood:
2	chr1:153413593..153416573-chr1:153420013..153421655,2	MCF-7	breast:
3	chr1:153329431..153332677-chr1:153411266..153413745,3	MCF-7	breast:
4	chr1:153407055..153408752-chr1:153409136..153411597,2	MCF-7	breast:
5	chr1:153413081..153415452-chr1:153435281..153437822,3	MCF-7	breast:

No data

Variant related genes	Relation type
S100A7L2	TF binding region
S100A7L2	CpG island
ENSG00000163220	chromatin interactions

Extended variants
information (count: 179 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553527184	chr1:153410520-153410521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115703659	chr1:153410525-153410526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11584256	chr1:153410584-153410585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs117909437	chr1:153410613-153410614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377062054	chr1:153410624-153410625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147282626	chr1:153410625-153410626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74115439	chr1:153410636-153410637	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs571172133	chr1:153410642-153410643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199975815	chr1:153410663-153410664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538593753	chr1:153410671-153410672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542193205	chr1:153410679-153410680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61743588	chr1:153410682-153410683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs139863738	chr1:153410683-153410684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115100684	chr1:153410703-153410704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs55672410	chr1:153410715-153410716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565264295	chr1:153410744-153410745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188609987	chr1:153410748-153410749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140012440	chr1:153410754-153410755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369177408	chr1:153410762-153410763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112403134	chr1:153410764-153410765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61742168	chr1:153410777-153410778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116156022	chr1:153410798-153410799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10888561	chr1:153410822-153410823	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs56106046	chr1:153410858-153410859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145850471	chr1:153410912-153410913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558708581	chr1:153410916-153410917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562529596	chr1:153411017-153411018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574523317	chr1:153411066-153411067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542283905	chr1:153411088-153411089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs118126459	chr1:153411111-153411112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527846113	chr1:153411112-153411113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552500777	chr1:153411182-153411183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564717920	chr1:153411183-153411184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532031858	chr1:153411187-153411188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74115440	chr1:153411220-153411221	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs3014831	chr1:153411229-153411230	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs535891622	chr1:153411231-153411232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548231081	chr1:153411234-153411235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566451956	chr1:153411240-153411241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533940032	chr1:153411289-153411290	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs528329448	chr1:153411294-153411295	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs114562728	chr1:153411338-153411339	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs570349167	chr1:153411369-153411370	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs111530393	chr1:153411371-153411372	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs148589619	chr1:153411408-153411409	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs537409201	chr1:153411439-153411440	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs574745066	chr1:153411456-153411457	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs541868720	chr1:153411457-153411458	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs554192670	chr1:153411472-153411473	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs373791308	chr1:153411489-153411490	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	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
Non-syndromic sensorineural hearing loss	15273396	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
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
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
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Liver carcinoma	19366792	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153404000-153413800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:153411800-153412000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr1:153412000-153412800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:153412600-153413800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:153412800-153414200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:153413400-153414000	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr1:153413800-153414200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:153413800-153414200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:153413800-153414200	Enhancers	Esophagus	oesophagus
10	chr1:153417000-153417200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin

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