Variant report

Variant	esv1000808
Chromosome Location	chr1:213083340-213087446
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 219 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:219 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556500546	chr1:213083358-213083359	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs575043392	chr1:213083363-213083364	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs36179796	chr1:213083381-213083382	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs190050107	chr1:213083384-213083385	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs386639146	chr1:213083391-213083392	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs36134327	chr1:213083397-213083398	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs36182199	chr1:213083400-213083401	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs112030508	chr1:213083404-213083405	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576133253	chr1:213083406-213083407	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12735579	chr1:213083407-213083408	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs61832374	chr1:213083409-213083410	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
12	rs529122763	chr1:213083423-213083424	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs28433645	chr1:213083449-213083450	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547369691	chr1:213083454-213083455	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559723129	chr1:213083466-213083467	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532914108	chr1:213083530-213083531	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551398221	chr1:213083562-213083563	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs386639147	chr1:213083577-213083578	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs59202785	chr1:213083578-213083579	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12756725	chr1:213083579-213083580	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
21	rs60479340	chr1:213083582-213083583	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12735880	chr1:213083597-213083598	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs60514307	chr1:213083601-213083602	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138991064	chr1:213083603-213083604	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12756874	chr1:213083610-213083611	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12088088	chr1:213083629-213083630	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs12087017	chr1:213083667-213083668	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs554161226	chr1:213083674-213083675	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572416401	chr1:213083680-213083681	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539403875	chr1:213083696-213083697	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562431069	chr1:213083700-213083701	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187429139	chr1:213083705-213083706	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28529876	chr1:213083721-213083722	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs111633509	chr1:213083722-213083723	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562254593	chr1:213083779-213083780	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12087098	chr1:213083809-213083810	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs571795452	chr1:213083839-213083840	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183416654	chr1:213083857-213083858	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200228805	chr1:213083858-213083859	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12087106	chr1:213083882-213083883	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs375153982	chr1:213083893-213083894	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559637900	chr1:213083905-213083906	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193028066	chr1:213083909-213083910	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551361039	chr1:213083917-213083918	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563258709	chr1:213083937-213083938	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144634597	chr1:213084061-213084062	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
47	rs369477557	chr1:213084107-213084108	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372461429	chr1:213084109-213084110	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547807481	chr1:213084117-213084118	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28826102	chr1:213084124-213084125	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Trisomy 5 syndrome	21098271	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

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213073800-213089000	Weak transcription	Pancreas	Pancrea
2	chr1:213076800-213083600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:213079600-213090000	Weak transcription	Right Atrium	heart
4	chr1:213081600-213088000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:213082600-213083600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:213083000-213083400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:213083000-213083400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr1:213083200-213083400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr1:213083200-213084200	Active TSS	H1 Cell Line	embryonic stem cell
10	chr1:213083200-213084200	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr1:213083200-213084200	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr1:213083200-213084200	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr1:213083200-213084200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:213083200-213084600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr1:213083200-213086400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:213083200-213088000	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr1:213083200-213089000	Active TSS	H9 Cell Line	embryonic stem cell
18	chr1:213083400-213084200	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr1:213083400-213088000	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr1:213083600-213084200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:213083600-213084200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:213084200-213084600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr1:213084200-213086200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:213084200-213086400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:213084200-213086400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:213084200-213086400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:213084200-213086400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:213084200-213086400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:213084200-213086400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:213084200-213088600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:213084600-213086200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr1:213084600-213086400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:213086200-213086800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr1:213086200-213088000	Active TSS	H1 Cell Line	embryonic stem cell
35	chr1:213086400-213087200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:213086400-213087400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:213086400-213087800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:213086400-213088000	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr1:213086400-213088000	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr1:213086400-213088000	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr1:213086400-213088000	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr1:213086400-213088000	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr1:213086800-213094400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr1:213087000-213087200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:213087200-213088000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:213087200-213089800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:213087400-213088000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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