Variant report

Variant	esv2757385
Chromosome Location	chr10:55108129-55137361
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:55107674..55109690-chr10:55123080..55124587,2	K562	blood:
2	chr10:55107674..55109690-chr10:55123080..55124587,2	K562	blood:
3	chr10:55105553..55107958-chr10:55109358..55111015,2	K562	blood:

Extended variants
information (count: 1256 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1256 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1909426	chr10:55108129-55108130	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560653625	chr10:55108159-55108160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532109386	chr10:55108162-55108163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1909427	chr10:55108196-55108197	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs553747686	chr10:55108197-55108198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562530801	chr10:55108230-55108231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35648504	chr10:55108233-55108234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548379216	chr10:55108243-55108244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191645293	chr10:55108267-55108268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540228559	chr10:55108308-55108309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569948929	chr10:55108389-55108390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184148215	chr10:55108391-55108392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544300423	chr10:55108415-55108416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532583703	chr10:55108445-55108446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372252912	chr10:55108461-55108462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560894870	chr10:55108572-55108573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533781069	chr10:55108602-55108603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142465707	chr10:55108672-55108673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375874681	chr10:55108682-55108683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151318162	chr10:55108716-55108717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190052023	chr10:55108723-55108724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181750898	chr10:55108736-55108737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185549860	chr10:55108807-55108808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376651186	chr10:55108828-55108829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537969733	chr10:55108863-55108864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554830799	chr10:55108896-55108897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115735865	chr10:55108899-55108900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540496341	chr10:55108938-55108939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147737965	chr10:55109055-55109056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560834633	chr10:55109088-55109089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140510990	chr10:55109106-55109107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145616333	chr10:55109127-55109128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562491842	chr10:55109158-55109159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12571715	chr10:55109173-55109174	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs73359420	chr10:55109249-55109250	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs371466328	chr10:55109331-55109332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561658436	chr10:55109383-55109384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116630743	chr10:55109444-55109445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547316876	chr10:55109476-55109477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138202218	chr10:55109485-55109486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369175789	chr10:55109486-55109487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190462829	chr10:55109509-55109510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552124641	chr10:55109563-55109564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10825004	chr10:55109587-55109588	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs375497532	chr10:55109588-55109589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76626871	chr10:55109601-55109602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537880941	chr10:55109615-55109616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555023094	chr10:55109616-55109617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554708535	chr10:55109637-55109638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568505912	chr10:55109654-55109655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55104400-55109400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr10:55104400-55117400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr10:55108000-55108200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr10:55109400-55109600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr10:55115800-55116000	Enhancers	H9 Cell Line	embryonic stem cell
6	chr10:55116000-55116200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr10:55116000-55116400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr10:55116000-55117400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr10:55116000-55118400	Enhancers	HMEC	breast
10	chr10:55116200-55117200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr10:55116400-55116800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr10:55116400-55116800	Enhancers	Fetal Heart	heart
13	chr10:55116400-55118000	Enhancers	NHEK	skin
14	chr10:55116400-55118600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr10:55116600-55117000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr10:55116800-55117200	Weak transcription	Fetal Heart	heart
17	chr10:55116800-55117800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr10:55116800-55117800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr10:55116800-55118000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr10:55116800-55118200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr10:55117000-55117400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr10:55117000-55119400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr10:55117200-55117800	Enhancers	Fetal Heart	heart
24	chr10:55117200-55118400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr10:55117200-55119400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr10:55117200-55119400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr10:55117200-55119600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr10:55117400-55117600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr10:55117400-55118200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr10:55117400-55118600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr10:55117400-55118600	Enhancers	H9 Cell Line	embryonic stem cell
32	chr10:55117400-55118600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr10:55117400-55119400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr10:55117400-55119600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr10:55117600-55119200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr10:55117600-55130000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr10:55118000-55118600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr10:55118600-55119800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr10:55118600-55124600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr10:55119200-55121800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr10:55119400-55120000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr10:55119400-55124600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr10:55119400-55124600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr10:55119600-55124600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr10:55120000-55120200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
46	chr10:55120600-55123600	Enhancers	Liver	Liver
47	chr10:55121200-55122200	Enhancers	HepG2	liver
48	chr10:55121400-55122000	Enhancers	Adipose Nuclei	Adipose
49	chr10:55121800-55122200	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr10:55122200-55124600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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