Variant report

Variant	esv1004277
Chromosome Location	chr1:213316128-213318195
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	chr1:213306346..213308829-chr1:213315366..213317859,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114502228	chr1:213316210-213316211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs59003653	chr1:213316220-213316221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186485599	chr1:213316310-213316311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115188618	chr1:213316318-213316319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75541057	chr1:213316353-213316354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529753430	chr1:213316385-213316386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536052904	chr1:213316396-213316397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145763661	chr1:213316406-213316407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561360036	chr1:213316409-213316410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191841327	chr1:213316523-213316524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547027091	chr1:213316527-213316528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571973664	chr1:213316529-213316530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10864037	chr1:213316546-213316547	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs61834119	chr1:213316596-213316597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs80017237	chr1:213316692-213316693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184743740	chr1:213316694-213316695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536771231	chr1:213316702-213316703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370170796	chr1:213316799-213316800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546470870	chr1:213316826-213316827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190343151	chr1:213316859-213316860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374509369	chr1:213316869-213316870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558522929	chr1:213316895-213316896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74352331	chr1:213316899-213316900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573914362	chr1:213316970-213316971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs56153721	chr1:213317013-213317014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181675861	chr1:213317014-213317015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375639935	chr1:213317044-213317045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558535170	chr1:213317088-213317089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368589813	chr1:213317126-213317127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540171345	chr1:213317167-213317168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561531673	chr1:213317174-213317175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199840815	chr1:213317185-213317186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528631193	chr1:213317300-213317301	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540832993	chr1:213317324-213317325	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138690333	chr1:213317332-213317333	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572029505	chr1:213317374-213317375	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77628727	chr1:213317424-213317425	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185171982	chr1:213317479-213317480	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530199473	chr1:213317582-213317583	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189480349	chr1:213317614-213317615	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149180174	chr1:213317621-213317622	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181803444	chr1:213317673-213317674	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554658520	chr1:213317714-213317715	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185476915	chr1:213317749-213317750	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368780123	chr1:213317756-213317757	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115373435	chr1:213317796-213317797	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537785922	chr1:213317832-213317833	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574574753	chr1:213317835-213317836	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189842478	chr1:213317865-213317866	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544077201	chr1:213317883-213317884	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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	16750200	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	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
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213261600-213327400	Weak transcription	Aorta	Aorta
2	chr1:213281200-213320400	Weak transcription	Primary T cells from cord blood	blood
3	chr1:213284200-213317200	Weak transcription	Left Ventricle	heart
4	chr1:213284600-213349800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr1:213285400-213317200	Weak transcription	Fetal Kidney	kidney
6	chr1:213292400-213317400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:213294200-213321400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:213297400-213320400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:213301000-213371000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:213301000-213374800	Weak transcription	HSMM	muscle
11	chr1:213302600-213358200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:213302800-213317800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:213306200-213331600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr1:213306600-213323400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:213307200-213319200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:213309600-213329000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:213309600-213336000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:213309800-213317000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:213309800-213317200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr1:213309800-213319600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:213310000-213317200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr1:213310000-213345800	Weak transcription	Lung	lung
23	chr1:213310000-213370400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr1:213310400-213317200	Weak transcription	Fetal Intestine Large	intestine
25	chr1:213310400-213317600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:213310400-213333600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr1:213310400-213345800	Weak transcription	Ovary	ovary
28	chr1:213312000-213340200	Weak transcription	HSMMtube	muscle
29	chr1:213312200-213340000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr1:213312200-213343600	Weak transcription	HepG2	liver
31	chr1:213312400-213322200	Weak transcription	Fetal Lung	lung
32	chr1:213312400-213336000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr1:213312600-213326800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:213312600-213327400	Weak transcription	K562	blood
35	chr1:213313000-213320600	Weak transcription	NHDF-Ad	bronchial
36	chr1:213313000-213320800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:213313400-213322200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:213313800-213336000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:213314000-213320200	Weak transcription	Primary B cells from cord blood	blood
40	chr1:213314600-213317400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr1:213314600-213319200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr1:213314800-213317200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:213315800-213316400	Strong transcription	NH-A	brain
44	chr1:213315800-213317200	Weak transcription	Brain Anterior Caudate	brain
45	chr1:213316000-213317200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:213316000-213340000	Weak transcription	Psoas Muscle	Psoas
47	chr1:213316200-213328400	Weak transcription	Placenta	Placenta
48	chr1:213316400-213320200	Weak transcription	Fetal Muscle Leg	muscle
49	chr1:213316400-213336200	Weak transcription	NH-A	brain
50	chr1:213317000-213317800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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