Variant report

Variant	esv2763085
Chromosome Location	chr2:213073428-213107281
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	chr2:213087806..213089470-chr2:213104320..213105941,2	MCF-7	breast:
2	chr2:213087806..213089470-chr2:213104320..213105941,2	MCF-7	breast:

Extended variants
information (count: 725 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:725 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568648494	chr2:213087415-213087416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534104868	chr2:213087417-213087418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191681990	chr2:213087431-213087432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577228569	chr2:213087444-213087445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539867864	chr2:213087450-213087451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537680522	chr2:213087471-213087472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556127924	chr2:213087481-213087482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573895639	chr2:213087507-213087508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575965829	chr2:213087512-213087513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79832899	chr2:213087539-213087540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182693467	chr2:213087562-213087563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1915747	chr2:213087563-213087564	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs572219313	chr2:213087575-213087576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540825556	chr2:213087598-213087599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564213524	chr2:213087610-213087611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78698226	chr2:213087617-213087618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549845296	chr2:213087624-213087625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563260909	chr2:213087632-213087633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566859126	chr2:213087640-213087641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1915748	chr2:213087650-213087651	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs548921247	chr2:213087682-213087683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188216797	chr2:213087683-213087684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558758196	chr2:213087710-213087711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs17345590	chr2:213087733-213087734	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs540147047	chr2:213087780-213087781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73062423	chr2:213090617-213090618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2371569	chr2:213090637-213090638	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs10048819	chr2:213090681-213090682	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs2888087	chr2:213090688-213090689	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs538712711	chr2:213090711-213090712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542097509	chr2:213090748-213090749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561688871	chr2:213090758-213090759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371212115	chr2:213090773-213090774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558160610	chr2:213090793-213090794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574917538	chr2:213090795-213090796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537417942	chr2:213090801-213090802	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557240597	chr2:213090802-213090803	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148369096	chr2:213090810-213090811	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs4335895	chr2:213090824-213090825	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs186883060	chr2:213090871-213090872	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10048750	chr2:213090883-213090884	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs532248735	chr2:213090891-213090892	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542443977	chr2:213090933-213090934	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565342975	chr2:213090949-213090950	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533070987	chr2:213090989-213090990	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546707607	chr2:213090990-213090991	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561072726	chr2:213091012-213091013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566718048	chr2:213091047-213091048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77748546	chr2:213091078-213091079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78578954	chr2:213091088-213091089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	17661082	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213087400-213087800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:213090600-213093800	Enhancers	Fetal Heart	heart
3	chr2:213090800-213091000	ZNF genes & repeats	Aorta	Aorta
4	chr2:213090800-213091000	Enhancers	Brain Angular Gyrus	brain
5	chr2:213090800-213091000	Enhancers	Brain Anterior Caudate	brain
6	chr2:213091000-213092000	Weak transcription	Brain Angular Gyrus	brain
7	chr2:213091000-213098800	Weak transcription	Aorta	Aorta
8	chr2:213092000-213092400	Enhancers	Hela-S3	cervix
9	chr2:213092000-213092800	Enhancers	Brain Angular Gyrus	brain
10	chr2:213092000-213093600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:213092200-213092800	Enhancers	Fetal Brain Female	brain
12	chr2:213092200-213094000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:213092200-213094200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:213092400-213092800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:213092400-213092800	Weak transcription	Hela-S3	cervix
16	chr2:213092400-213093000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:213092400-213093800	Enhancers	Osteobl	bone
18	chr2:213092400-213094400	Enhancers	Brain Germinal Matrix	brain
19	chr2:213092600-213092800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr2:213092600-213092800	Enhancers	Fetal Kidney	kidney
21	chr2:213092600-213092800	Flanking Active TSS	Fetal Lung	lung
22	chr2:213092600-213093000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr2:213092600-213093000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr2:213092600-213094000	Enhancers	Brain Substantia Nigra	brain
25	chr2:213092800-213093400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:213092800-213093800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:213092800-213093800	Weak transcription	Fetal Kidney	kidney
28	chr2:213092800-213093800	Enhancers	NHEK	skin
29	chr2:213092800-213094200	Enhancers	Fetal Lung	lung
30	chr2:213092800-213094600	Enhancers	Hela-S3	cervix
31	chr2:213093000-213093400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:213093400-213094000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:213093400-213094000	Enhancers	NHDF-Ad	bronchial
34	chr2:213093400-213094200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr2:213093400-213094400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:213093600-213107400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:213093800-213094000	Enhancers	Fetal Kidney	kidney
38	chr2:213098800-213099000	Enhancers	Aorta	Aorta
39	chr2:213100400-213102600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:213101800-213103000	Enhancers	HepG2	liver
41	chr2:213102000-213102200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr2:213102000-213102200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:213102000-213103200	Enhancers	H9 Cell Line	embryonic stem cell
44	chr2:213102000-213103200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:213102000-213103200	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr2:213102000-213103200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:213102000-213103600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr2:213102200-213102600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:213102200-213102800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr2:213102200-213103200	Enhancers	H1 Cell Line	embryonic stem cell

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