Variant report

Variant	esv2760080
Chromosome Location	chr1:221742890-221763387
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	chr1:221746709..221748888-chr1:221752322..221754674,2	K562	blood:
4	chr1:221746709..221748888-chr1:221752322..221754674,2	K562	blood:
5	chr1:221746221..221748385-chr1:221914504..221916703,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143507	chromatin interactions

Extended variants
information (count: 308 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9729646	chr1:221742890-221742891	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9308400	chr1:221742928-221742929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs57185653	chr1:221743004-221743005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs60383455	chr1:221743005-221743006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs73115363	chr1:221743030-221743031	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs12564947	chr1:221743047-221743048	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs144906746	chr1:221743077-221743078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374297890	chr1:221743078-221743079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10608787	chr1:221743079-221743080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs397793482	chr1:221743093-221743094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74397139	chr1:221743095-221743096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528101703	chr1:221743114-221743115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570816704	chr1:221743143-221743144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531727553	chr1:221743274-221743275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs207461177	chr1:221743276-221743277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10495170	chr1:221743288-221743289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs367851844	chr1:221743413-221743414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567959462	chr1:221743414-221743415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78956298	chr1:221743529-221743530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368329668	chr1:221743555-221743556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550385992	chr1:221743563-221743564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557931403	chr1:221743590-221743591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569060056	chr1:221743653-221743654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191823510	chr1:221743664-221743665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557649090	chr1:221743762-221743763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566392144	chr1:221743781-221743782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184108491	chr1:221743798-221743799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555390957	chr1:221743799-221743800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573944276	chr1:221743847-221743848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557824742	chr1:221743855-221743856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115032025	chr1:221743856-221743857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187531265	chr1:221743929-221743930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372082174	chr1:221743953-221743954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556362205	chr1:221743992-221743993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs578140891	chr1:221744029-221744030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs578043116	chr1:221744042-221744043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545578611	chr1:221744083-221744084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540314816	chr1:221744095-221744096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72734724	chr1:221744129-221744130	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs192784514	chr1:221744171-221744172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543332795	chr1:221744236-221744237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114783467	chr1:221744260-221744261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10779442	chr1:221744274-221744275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs12086226	chr1:221744287-221744288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs562258436	chr1:221744288-221744289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376817402	chr1:221744301-221744302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562412226	chr1:221744305-221744306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10779443	chr1:221744344-221744345	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs150269483	chr1:221744362-221744363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184143582	chr1:221744384-221744385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

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	chr1:221743600-221744000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:221746600-221746800	Enhancers	Psoas Muscle	Psoas
10	chr1:221746600-221747400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:221746600-221748800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr1:221746600-221749000	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr1:221746800-221747200	Weak transcription	Psoas Muscle	Psoas
14	chr1:221746800-221749600	Enhancers	Fetal Heart	heart
15	chr1:221747000-221747400	Enhancers	Adipose Nuclei	Adipose
16	chr1:221747000-221747600	Enhancers	Stomach Mucosa	stomach
17	chr1:221747200-221747400	Enhancers	Psoas Muscle	Psoas
18	chr1:221747200-221747800	Enhancers	Fetal Muscle Leg	muscle
19	chr1:221747400-221748200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:221747400-221748800	Weak transcription	Psoas Muscle	Psoas
21	chr1:221747800-221748000	Enhancers	Colon Smooth Muscle	Colon
22	chr1:221747800-221748800	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:221748000-221749200	Enhancers	Rectal Smooth Muscle	rectum
24	chr1:221748000-221749400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr1:221748000-221750200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:221748200-221750200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:221748200-221750200	Enhancers	NH-A	brain
28	chr1:221748200-221750400	Enhancers	NHLF	lung
29	chr1:221748400-221748600	Enhancers	Fetal Lung	lung
30	chr1:221748400-221748600	Enhancers	HSMMtube	muscle
31	chr1:221748400-221749400	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:221748800-221749000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:221748800-221749000	Enhancers	Left Ventricle	heart
34	chr1:221748800-221749000	Enhancers	Pancreas	Pancrea
35	chr1:221748800-221749200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:221748800-221749200	Enhancers	Fetal Muscle Leg	muscle
37	chr1:221748800-221749200	Enhancers	Psoas Muscle	Psoas
38	chr1:221748800-221749200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr1:221749200-221749400	Enhancers	Fetal Lung	lung
40	chr1:221749200-221749400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:221749200-221749400	Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr1:221749200-221749400	Enhancers	HSMMtube	muscle
43	chr1:221749400-221749800	Enhancers	Rectal Smooth Muscle	rectum
44	chr1:221749400-221750000	Enhancers	Colon Smooth Muscle	Colon
45	chr1:221749600-221750000	Enhancers	A549	lung
46	chr1:221749600-221750200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:221756600-221757800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:221757000-221757200	Enhancers	NH-A	brain
49	chr1:221757000-221757400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:221757000-221757600	Enhancers	Osteobl	bone

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