Variant report

Variant	esv1809909
Chromosome Location	chr1:221740539-221754260
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000143507	chromatin interactions

Extended variants
information (count: 350 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:350 , 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	rs9727396	chr1:221740539-221740540	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530912178	chr1:221740549-221740550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538559739	chr1:221740555-221740556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534114425	chr1:221740566-221740567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552412267	chr1:221740637-221740638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549469253	chr1:221740699-221740700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs151086087	chr1:221740827-221740828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184909236	chr1:221740832-221740833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553734551	chr1:221740864-221740865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs57715531	chr1:221740877-221740878	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs546740490	chr1:221740879-221740880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141705842	chr1:221740908-221740909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573872653	chr1:221740920-221740921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190205642	chr1:221740935-221740936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145955279	chr1:221740984-221740985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569581048	chr1:221741058-221741059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182437504	chr1:221741138-221741139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139923831	chr1:221741162-221741163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs925944	chr1:221741182-221741183	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs547619804	chr1:221741207-221741208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534816503	chr1:221741208-221741209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4542216	chr1:221741216-221741217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553251212	chr1:221741242-221741243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143339020	chr1:221741251-221741252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185829155	chr1:221741258-221741259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563569760	chr1:221741264-221741265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs17010290	chr1:221741274-221741275	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs544264775	chr1:221741303-221741304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79290940	chr1:221741438-221741439	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377694425	chr1:221741439-221741440	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546136874	chr1:221741440-221741441	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2009200	chr1:221741449-221741450	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs552251153	chr1:221741479-221741480	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4468168	chr1:221741503-221741504	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373113591	chr1:221741553-221741554	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78626938	chr1:221741586-221741587	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146279419	chr1:221741623-221741624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546676650	chr1:221741653-221741654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75326958	chr1:221741727-221741728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529428924	chr1:221741739-221741740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139218752	chr1:221741757-221741758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191107343	chr1:221741825-221741826	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149955353	chr1:221741885-221741886	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145219856	chr1:221741897-221741898	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570879350	chr1:221741912-221741913	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35809015	chr1:221741923-221741924	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536658500	chr1:221741924-221741925	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552106643	chr1:221741939-221741940	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374843470	chr1:221741982-221741983	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181191944	chr1:221741988-221741989	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	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:70 , 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	chr1:221737000-221741200	Weak transcription	Psoas Muscle	Psoas
4	chr1:221737000-221741600	Enhancers	Fetal Heart	heart
5	chr1:221737200-221741200	Weak transcription	Ovary	ovary
6	chr1:221737200-221741200	Weak transcription	Right Atrium	heart
7	chr1:221737200-221741600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr1:221737400-221740600	Weak transcription	Liver	Liver
9	chr1:221738800-221741400	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr1:221739200-221741000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:221739400-221741000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:221739400-221747000	Weak transcription	Adipose Nuclei	Adipose
13	chr1:221740600-221742000	Enhancers	Liver	Liver
14	chr1:221741000-221741400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:221741000-221741600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr1:221741000-221741600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr1:221741200-221741400	Enhancers	Right Atrium	heart
18	chr1:221741200-221741600	Enhancers	Psoas Muscle	Psoas
19	chr1:221741200-221741600	Enhancers	Right Ventricle	heart
20	chr1:221741200-221741800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:221741200-221741800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr1:221741200-221742400	Enhancers	Ovary	ovary
23	chr1:221741400-221741600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:221741400-221741800	Enhancers	Fetal Lung	lung
25	chr1:221741400-221746600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:221741600-221741800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:221741600-221746600	Weak transcription	Psoas Muscle	Psoas
28	chr1:221741600-221746600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:221741600-221746800	Weak transcription	Fetal Heart	heart
30	chr1:221741800-221742000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:221742000-221742400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:221743600-221744000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:221746600-221746800	Enhancers	Psoas Muscle	Psoas
34	chr1:221746600-221747400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:221746600-221748800	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr1:221746600-221749000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr1:221746800-221747200	Weak transcription	Psoas Muscle	Psoas
38	chr1:221746800-221749600	Enhancers	Fetal Heart	heart
39	chr1:221747000-221747400	Enhancers	Adipose Nuclei	Adipose
40	chr1:221747000-221747600	Enhancers	Stomach Mucosa	stomach
41	chr1:221747200-221747400	Enhancers	Psoas Muscle	Psoas
42	chr1:221747200-221747800	Enhancers	Fetal Muscle Leg	muscle
43	chr1:221747400-221748200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:221747400-221748800	Weak transcription	Psoas Muscle	Psoas
45	chr1:221747800-221748000	Enhancers	Colon Smooth Muscle	Colon
46	chr1:221747800-221748800	Weak transcription	Fetal Muscle Leg	muscle
47	chr1:221748000-221749200	Enhancers	Rectal Smooth Muscle	rectum
48	chr1:221748000-221749400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr1:221748000-221750200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:221748200-221750200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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