Variant report

Variant	esv3453769
Chromosome Location	chr1:228431175-228432010
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	chr1:228423250..228427133-chr1:228428508..228431857,5	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11584385	chr1:228431235-228431236	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs542433788	chr1:228431238-228431239	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182876528	chr1:228431252-228431253	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576393016	chr1:228431253-228431254	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545366100	chr1:228431329-228431330	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541271072	chr1:228431330-228431331	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527705011	chr1:228431334-228431335	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35374787	chr1:228431400-228431401	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114051810	chr1:228431416-228431417	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200953438	chr1:228431454-228431455	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561206101	chr1:228431455-228431456	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530248836	chr1:228431475-228431476	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369260652	chr1:228431499-228431500	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10916292	chr1:228431500-228431501	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs12729028	chr1:228431517-228431518	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574410860	chr1:228431578-228431579	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12730203	chr1:228431581-228431582	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12750186	chr1:228431642-228431643	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543496014	chr1:228431643-228431644	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190735497	chr1:228431646-228431647	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552460525	chr1:228431684-228431685	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570875723	chr1:228431685-228431686	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533573488	chr1:228431689-228431690	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559165009	chr1:228431718-228431719	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553756080	chr1:228431724-228431725	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576750159	chr1:228431729-228431730	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545750496	chr1:228431743-228431744	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184074405	chr1:228431748-228431749	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536384638	chr1:228431763-228431764	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187713298	chr1:228431766-228431767	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112259354	chr1:228431786-228431787	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541589719	chr1:228431815-228431816	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545292221	chr1:228431831-228431832	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558916304	chr1:228431837-228431838	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145330710	chr1:228431847-228431848	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541052605	chr1:228431880-228431881	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192258754	chr1:228431919-228431920	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10916293	chr1:228431930-228431931	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs543902007	chr1:228431931-228431932	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200383599	chr1:228431973-228431974	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376144052	chr1:228431974-228431975	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368154901	chr1:228431990-228431991	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371031425	chr1:228432006-228432007	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
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
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
Breast cancer	17603634	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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228417200-228433000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:228418400-228436000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:228422200-228434800	ZNF genes & repeats	Dnd41	blood
4	chr1:228425800-228434200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:228426000-228435200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr1:228426600-228434400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:228427000-228435600	ZNF genes & repeats	Brain Germinal Matrix	brain
8	chr1:228427200-228434600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:228427400-228432000	Weak transcription	Psoas Muscle	Psoas
10	chr1:228428000-228432200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:228428000-228433400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr1:228428200-228433200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr1:228428200-228434200	ZNF genes & repeats	Fetal Lung	lung
14	chr1:228428200-228434600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:228428200-228435000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
16	chr1:228428400-228434000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
17	chr1:228428400-228434400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr1:228428400-228434600	ZNF genes & repeats	Liver	Liver
19	chr1:228428400-228434600	ZNF genes & repeats	Fetal Intestine Large	intestine
20	chr1:228428400-228435200	ZNF genes & repeats	Primary T cells from cord blood	blood
21	chr1:228428400-228436600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
22	chr1:228428600-228433600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:228428600-228434400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
24	chr1:228428600-228434600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
25	chr1:228428600-228434800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
26	chr1:228428600-228435000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
27	chr1:228428600-228435000	ZNF genes & repeats	Fetal Muscle Leg	muscle
28	chr1:228428800-228431400	ZNF genes & repeats	Brain Anterior Caudate	brain
29	chr1:228428800-228434800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
30	chr1:228429000-228431200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:228429000-228434800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
32	chr1:228429000-228439400	Strong transcription	HSMMtube	muscle
33	chr1:228429200-228432000	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:228429400-228431600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr1:228429800-228432200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
36	chr1:228430000-228435200	ZNF genes & repeats	Fetal Kidney	kidney
37	chr1:228430200-228431400	ZNF genes & repeats	Hela-S3	cervix
38	chr1:228430200-228433800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
39	chr1:228430200-228434000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
40	chr1:228430200-228434600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
41	chr1:228430200-228435000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:228430400-228431200	ZNF genes & repeats	Gastric	stomach
43	chr1:228430400-228431200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
44	chr1:228430400-228432200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:228430400-228432400	Weak transcription	Fetal Heart	heart
46	chr1:228430400-228433200	Strong transcription	Placenta Amnion	Placenta Amnion
47	chr1:228430400-228433400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
48	chr1:228430400-228434400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
49	chr1:228430400-228434600	ZNF genes & repeats	Spleen	Spleen
50	chr1:228430400-228434800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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