Variant report

Variant	nsv826742
Chromosome Location	chr1:220870804-220871633
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220869909..220871487-chr1:220872006..220873594,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544578812	chr1:220870840-220870841	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs57487362	chr1:220870873-220870874	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs559921321	chr1:220870879-220870880	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531945023	chr1:220870908-220870909	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116041055	chr1:220870913-220870914	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141472851	chr1:220871038-220871039	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs337154	chr1:220871123-220871124	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs545704504	chr1:220871152-220871153	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562586184	chr1:220871166-220871167	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371457824	chr1:220871202-220871203	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565588604	chr1:220871203-220871204	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs193241546	chr1:220871204-220871205	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150838453	chr1:220871227-220871228	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs337153	chr1:220871320-220871321	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs546853948	chr1:220871321-220871322	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543126174	chr1:220871372-220871373	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139303801	chr1:220871404-220871405	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539200668	chr1:220871484-220871485	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558919728	chr1:220871504-220871505	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144442301	chr1:220871538-220871539	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538001905	chr1:220871551-220871552	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79758674	chr1:220871574-220871575	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146117059	chr1:220871588-220871589	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534201644	chr1:220871628-220871629	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Pleomorphic liposarcoma	18784837	CNVD
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220865200-220873200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:220865200-220874200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:220865200-220879200	Weak transcription	Ovary	ovary
4	chr1:220865400-220873200	Weak transcription	Fetal Brain Female	brain
5	chr1:220865400-220873800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:220865400-220874400	Weak transcription	Colonic Mucosa	Colon
7	chr1:220865400-220876200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:220866000-220872400	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:220866000-220873400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:220866000-220873600	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:220866600-220872400	Weak transcription	Fetal Brain Male	brain
12	chr1:220866600-220879600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:220868400-220873200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:220868400-220873600	Strong transcription	Fetal Intestine Small	intestine
15	chr1:220869800-220871600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:220869800-220872000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:220869800-220872000	Genic enhancers	Placenta	Placenta
18	chr1:220869800-220872600	Strong transcription	Duodenum Mucosa	Duodenum
19	chr1:220870000-220871000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:220870000-220871400	Strong transcription	Aorta	Aorta
21	chr1:220870000-220871600	Strong transcription	Left Ventricle	heart
22	chr1:220870000-220871600	Strong transcription	Pancreas	Pancrea
23	chr1:220870000-220871800	Strong transcription	Adipose Nuclei	Adipose
24	chr1:220870000-220872000	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr1:220870000-220872600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:220870000-220872800	Genic enhancers	Liver	Liver
27	chr1:220870000-220873600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:220870200-220871000	Strong transcription	HepG2	liver
29	chr1:220870200-220871400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:220870200-220871400	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:220870200-220871600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:220870200-220871600	Strong transcription	Gastric	stomach
33	chr1:220870200-220871600	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr1:220870200-220871800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr1:220870200-220871800	Strong transcription	Spleen	Spleen
36	chr1:220870200-220872000	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:220870400-220872000	Strong transcription	Lung	lung
38	chr1:220870400-220872000	Strong transcription	Right Ventricle	heart
39	chr1:220870400-220873600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr1:220870600-220871800	Strong transcription	Fetal Lung	lung
41	chr1:220870600-220873000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:220870600-220873400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:220870600-220873600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:220870800-220871000	Genic enhancers	Brain Angular Gyrus	brain
45	chr1:220870800-220871400	Enhancers	Brain Anterior Caudate	brain
46	chr1:220870800-220872200	Genic enhancers	Fetal Intestine Large	intestine
47	chr1:220871000-220871600	Strong transcription	Brain Angular Gyrus	brain
48	chr1:220871000-220871600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:220871000-220871800	Genic enhancers	HepG2	liver
50	chr1:220871000-220872000	Strong transcription	Fetal Stomach	stomach

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