Variant report

Variant	esv2761596
Chromosome Location	chr10:54814054-54886345
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	chr10:54834743..54836680-chr10:54837690..54840341,2	K562	blood:
2	chr10:54834743..54836680-chr10:54837690..54840341,2	K562	blood:

Extended variants
information (count: 1744 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1744 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561309611	chr10:54814219-54814220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs386743783	chr10:54814226-54814227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188560522	chr10:54814227-54814228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148529599	chr10:54814256-54814257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370169765	chr10:54814317-54814318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555145278	chr10:54814319-54814320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142629936	chr10:54814341-54814342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551582427	chr10:54814366-54814367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1917203	chr10:54814403-54814404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1917202	chr10:54814413-54814414	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs1917201	chr10:54814453-54814454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1917200	chr10:54814497-54814498	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs535807409	chr10:54814501-54814502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562254541	chr10:54814505-54814506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553270404	chr10:54814524-54814525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1917199	chr10:54814525-54814526	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs192938797	chr10:54814590-54814591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78587923	chr10:54814596-54814597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74953066	chr10:54814600-54814601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572863535	chr10:54829213-54829214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139044190	chr10:54829258-54829259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191005747	chr10:54829259-54829260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569671358	chr10:54829278-54829279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552650679	chr10:54829815-54829816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573265205	chr10:54829858-54829859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7086697	chr10:54829869-54829870	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs139507508	chr10:54829894-54829895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs16937075	chr10:54829901-54829902	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs576853543	chr10:54829946-54829947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568460198	chr10:54829965-54829966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10824876	chr10:54829966-54829967	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs191023505	chr10:54829972-54829973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183286781	chr10:54829992-54829993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531164244	chr10:54830023-54830024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548661313	chr10:54830035-54830036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12773107	chr10:54830087-54830088	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs534298412	chr10:54830089-54830090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539274200	chr10:54830111-54830112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113358218	chr10:54830115-54830116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112973063	chr10:54830116-54830117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201648605	chr10:54830117-54830118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566130922	chr10:54830121-54830122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72802317	chr10:54830143-54830144	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs377240821	chr10:54830167-54830168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199713527	chr10:54830239-54830240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10762917	chr10:54830242-54830243	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs7911206	chr10:54830293-54830294	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs7911207	chr10:54830301-54830302	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs188265938	chr10:54830310-54830311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565244000	chr10:54830323-54830324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54814200-54814600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr10:54829200-54829400	Enhancers	Gastric	stomach
3	chr10:54829800-54830000	Enhancers	Fetal Intestine Small	intestine
4	chr10:54829800-54831000	Weak transcription	Gastric	stomach
5	chr10:54829800-54831600	Enhancers	Liver	Liver
6	chr10:54830000-54831200	Weak transcription	Fetal Intestine Small	intestine
7	chr10:54830600-54832800	Enhancers	Duodenum Mucosa	Duodenum
8	chr10:54830800-54831600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr10:54830800-54832000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr10:54831000-54831400	Enhancers	Gastric	stomach
11	chr10:54831000-54831400	Enhancers	Pancreas	Pancrea
12	chr10:54831000-54831400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr10:54831000-54832000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:54831200-54832000	Enhancers	Primary hematopoietic stem cells	blood
15	chr10:54831200-54832000	Enhancers	Fetal Lung	lung
16	chr10:54831200-54832000	Enhancers	Stomach Mucosa	stomach
17	chr10:54831200-54832800	Enhancers	Fetal Intestine Small	intestine
18	chr10:54832800-54833600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr10:54832800-54833800	Weak transcription	Fetal Intestine Small	intestine
20	chr10:54833600-54833800	Enhancers	Duodenum Mucosa	Duodenum
21	chr10:54833800-54834000	Enhancers	Fetal Intestine Small	intestine
22	chr10:54833800-54834200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr10:54834200-54835200	Enhancers	Duodenum Mucosa	Duodenum
24	chr10:54845200-54865200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr10:54847800-54848800	Enhancers	Fetal Intestine Large	intestine
26	chr10:54848400-54849200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr10:54848600-54849200	Enhancers	Fetal Intestine Small	intestine
28	chr10:54852800-54853200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr10:54867200-54868400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr10:54867800-54868400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr10:54868200-54868600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr10:54871200-54871600	Enhancers	Fetal Thymus	thymus
33	chr10:54871200-54871800	Active TSS	HepG2	liver
34	chr10:54871400-54871800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr10:54871800-54877000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr10:54877000-54877200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr10:54877200-54881000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr10:54877600-54878800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr10:54879800-54880200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr10:54881000-54881200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr10:54881200-54884000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr10:54881400-54881800	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr10:54881400-54883000	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr10:54881800-54882600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr10:54882600-54883200	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr10:54883000-54884000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr10:54883600-54884200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr10:54884000-54884400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr10:54884000-54884400	Enhancers	Primary monocytes fromperipheralblood	blood

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