Variant report

Variant	esv2763101
Chromosome Location	chr2:213248318-213290535
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:213280702..213283541-chr2:213286415..213289040,2	MCF-7	breast:
2	chr2:213280702..213283541-chr2:213286415..213289040,2	MCF-7	breast:
3	chr2:213252657..213254943-chr2:213260775..213262754,2	K562	blood:
4	chr2:213252657..213254943-chr2:213260775..213262754,2	K562	blood:

Extended variants
information (count: 1301 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1301 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139001373	chr2:213248334-213248335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73060366	chr2:213248414-213248415	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs577250351	chr2:213248453-213248454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187895937	chr2:213248463-213248464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562865780	chr2:213248515-213248516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576456818	chr2:213248524-213248525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542152746	chr2:213248532-213248533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561928752	chr2:213248640-213248641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542541172	chr2:213248647-213248648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142160612	chr2:213248651-213248652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547548483	chr2:213248652-213248653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541476555	chr2:213248654-213248655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564060736	chr2:213248655-213248656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533037476	chr2:213248656-213248657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549413833	chr2:213248716-213248717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569315532	chr2:213248723-213248724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550898466	chr2:213248746-213248747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10201484	chr2:213248766-213248767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535044259	chr2:213248779-213248780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573712750	chr2:213248791-213248792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1394781	chr2:213248822-213248823	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs568712070	chr2:213248844-213248845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534160356	chr2:213248847-213248848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554331624	chr2:213248863-213248864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35615764	chr2:213248895-213248896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190934363	chr2:213248939-213248940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539940877	chr2:213248960-213248961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146350794	chr2:213248964-213248965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183259658	chr2:213248974-213248975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542215904	chr2:213249015-213249016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs72933165	chr2:213249038-213249039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188086099	chr2:213249053-213249054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551502882	chr2:213249124-213249125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540909332	chr2:213249129-213249130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113001210	chr2:213249136-213249137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372471942	chr2:213249139-213249140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192095031	chr2:213249140-213249141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532917084	chr2:213249149-213249150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184593744	chr2:213249198-213249199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111706480	chr2:213249224-213249225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13015805	chr2:213249244-213249245	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs374752358	chr2:213249269-213249270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549101193	chr2:213249274-213249275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548550439	chr2:213249298-213249299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs80317640	chr2:213249334-213249335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529698530	chr2:213249346-213249347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187784737	chr2:213249366-213249367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367708150	chr2:213249383-213249384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13016554	chr2:213249384-213249385	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs368187156	chr2:213249385-213249386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Schizophrenia	18990708	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213243400-213248400	Weak transcription	Fetal Heart	heart
2	chr2:213247600-213249400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:213247800-213248600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:213248000-213249200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:213248000-213250000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:213248200-213248600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:213248200-213249000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:213248200-213249400	Enhancers	Fetal Kidney	kidney
9	chr2:213248200-213250400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:213248400-213248800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:213248400-213249000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:213248400-213249200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:213248400-213249400	Enhancers	Fetal Heart	heart
14	chr2:213248400-213250000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:213248600-213250200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:213248800-213249200	Enhancers	Aorta	Aorta
17	chr2:213248800-213249200	Enhancers	Fetal Lung	lung
18	chr2:213249200-213253200	Weak transcription	Aorta	Aorta
19	chr2:213249800-213250200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:213249800-213250800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:213249800-213250800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:213249800-213251200	Enhancers	NHEK	skin
23	chr2:213253200-213253400	Enhancers	Aorta	Aorta
24	chr2:213254800-213255400	Enhancers	Brain Substantia Nigra	brain
25	chr2:213255200-213258000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:213255800-213258000	Enhancers	NHDF-Ad	bronchial
27	chr2:213256600-213257400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:213257000-213257600	Enhancers	Osteobl	bone
29	chr2:213257400-213258000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:213262000-213262200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr2:213262000-213263200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr2:213263200-213263600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:213263200-213263600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr2:213263600-213264600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:213263600-213265000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:213264800-213265000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr2:213265000-213265200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:213266000-213266200	Enhancers	Fetal Heart	heart
39	chr2:213268000-213268800	Enhancers	Fetal Heart	heart
40	chr2:213268800-213270400	Weak transcription	Fetal Heart	heart
41	chr2:213270400-213271600	Enhancers	Fetal Heart	heart
42	chr2:213271600-213273000	Weak transcription	Fetal Heart	heart
43	chr2:213273000-213274600	Enhancers	Fetal Heart	heart
44	chr2:213273200-213275000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:213273200-213275000	Enhancers	NHDF-Ad	bronchial
46	chr2:213274600-213279200	Weak transcription	Fetal Heart	heart
47	chr2:213275000-213278800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:213275000-213278800	Weak transcription	NHDF-Ad	bronchial
49	chr2:213278800-213279400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:213278800-213279400	Enhancers	NHDF-Ad	bronchial

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