Variant report

Variant	esv1814839
Chromosome Location	chr1:221746140-221753981
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:221746909..221748850-chr1:221913979..221916326,2	MCF-7	breast:
2	chr1:221751248..221753271-chr1:221864470..221866458,2	MCF-7	breast:
3	chr1:221746221..221748385-chr1:221914504..221916703,2	MCF-7	breast:
4	chr1:221746709..221748888-chr1:221752322..221754674,2	K562	blood:
5	chr1:221746709..221748888-chr1:221752322..221754674,2	K562	blood:

Variant related genes	Relation type
ENSG00000143507	chromatin interactions

Extended variants
information (count: 147 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1933266	chr1:221746140-221746141	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574054830	chr1:221746141-221746142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577241916	chr1:221746213-221746214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544571387	chr1:221746216-221746217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373280117	chr1:221746221-221746222	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs1933267	chr1:221746235-221746236	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs373251844	chr1:221746239-221746240	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs556854934	chr1:221746271-221746272	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs571855122	chr1:221746284-221746285	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs542697422	chr1:221746371-221746372	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs180980100	chr1:221746390-221746391	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs370303162	chr1:221746435-221746436	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs566083541	chr1:221746442-221746443	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs560958447	chr1:221746470-221746471	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs531510587	chr1:221746480-221746481	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs543372289	chr1:221746483-221746484	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs397861431	chr1:221746488-221746489	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs114688360	chr1:221746491-221746492	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs185453511	chr1:221746587-221746588	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs547769730	chr1:221746619-221746620	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs527410450	chr1:221746626-221746627	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs57962662	chr1:221746646-221746647	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs542072259	chr1:221746648-221746649	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs77954233	chr1:221746650-221746651	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs560221567	chr1:221746651-221746652	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs566079200	chr1:221746672-221746673	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs530178055	chr1:221746683-221746684	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs188356237	chr1:221746740-221746741	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs570183545	chr1:221746774-221746775	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs537624694	chr1:221746776-221746777	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs558838434	chr1:221746785-221746786	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs570770409	chr1:221746877-221746878	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs12134883	chr1:221746895-221746896	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs548233883	chr1:221746896-221746897	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs139701630	chr1:221746902-221746903	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs181231829	chr1:221746907-221746908	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs529605297	chr1:221746999-221747000	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs144592388	chr1:221747019-221747020	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs543559585	chr1:221747067-221747068	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs12067872	chr1:221747153-221747154	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs577259357	chr1:221747156-221747157	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs35068597	chr1:221747220-221747221	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs541326323	chr1:221747227-221747228	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs370518094	chr1:221747231-221747232	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs147871505	chr1:221747245-221747246	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs530086239	chr1:221747349-221747350	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs548416747	chr1:221747387-221747388	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs549359109	chr1:221747446-221747447	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs569662974	chr1:221747533-221747534	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs563769554	chr1:221747594-221747595	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	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
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221729800-221748600	Weak transcription	Left Ventricle	heart
2	chr1:221729800-221748800	Weak transcription	Pancreas	Pancrea
3	chr1:221739400-221747000	Weak transcription	Adipose Nuclei	Adipose
4	chr1:221741400-221746600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:221741600-221746600	Weak transcription	Psoas Muscle	Psoas
6	chr1:221741600-221746600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:221741600-221746800	Weak transcription	Fetal Heart	heart
8	chr1:221746600-221746800	Enhancers	Psoas Muscle	Psoas
9	chr1:221746600-221747400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:221746600-221748800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr1:221746600-221749000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr1:221746800-221747200	Weak transcription	Psoas Muscle	Psoas
13	chr1:221746800-221749600	Enhancers	Fetal Heart	heart
14	chr1:221747000-221747400	Enhancers	Adipose Nuclei	Adipose
15	chr1:221747000-221747600	Enhancers	Stomach Mucosa	stomach
16	chr1:221747200-221747400	Enhancers	Psoas Muscle	Psoas
17	chr1:221747200-221747800	Enhancers	Fetal Muscle Leg	muscle
18	chr1:221747400-221748200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:221747400-221748800	Weak transcription	Psoas Muscle	Psoas
20	chr1:221747800-221748000	Enhancers	Colon Smooth Muscle	Colon
21	chr1:221747800-221748800	Weak transcription	Fetal Muscle Leg	muscle
22	chr1:221748000-221749200	Enhancers	Rectal Smooth Muscle	rectum
23	chr1:221748000-221749400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr1:221748000-221750200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:221748200-221750200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:221748200-221750200	Enhancers	NH-A	brain
27	chr1:221748200-221750400	Enhancers	NHLF	lung
28	chr1:221748400-221748600	Enhancers	Fetal Lung	lung
29	chr1:221748400-221748600	Enhancers	HSMMtube	muscle
30	chr1:221748400-221749400	Weak transcription	Colon Smooth Muscle	Colon
31	chr1:221748800-221749000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:221748800-221749000	Enhancers	Left Ventricle	heart
33	chr1:221748800-221749000	Enhancers	Pancreas	Pancrea
34	chr1:221748800-221749200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:221748800-221749200	Enhancers	Fetal Muscle Leg	muscle
36	chr1:221748800-221749200	Enhancers	Psoas Muscle	Psoas
37	chr1:221748800-221749200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr1:221749200-221749400	Enhancers	Fetal Lung	lung
39	chr1:221749200-221749400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr1:221749200-221749400	Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr1:221749200-221749400	Enhancers	HSMMtube	muscle
42	chr1:221749400-221749800	Enhancers	Rectal Smooth Muscle	rectum
43	chr1:221749400-221750000	Enhancers	Colon Smooth Muscle	Colon
44	chr1:221749600-221750000	Enhancers	A549	lung
45	chr1:221749600-221750200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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