Variant report

Variant	esv3504840
Chromosome Location	chr10:55117689-55140609
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	chr10:55107674..55109690-chr10:55123080..55124587,2	K562	blood:

Extended variants
information (count: 996 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:996 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186572612	chr10:55117692-55117693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150889979	chr10:55117699-55117700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112295601	chr10:55117718-55117719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11003589	chr10:55117776-55117777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188776239	chr10:55117801-55117802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565319220	chr10:55117828-55117829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534342668	chr10:55117926-55117927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11594435	chr10:55117955-55117956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370434565	chr10:55117970-55117971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531493382	chr10:55117981-55117982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571359392	chr10:55118025-55118026	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536804485	chr10:55118057-55118058	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546648958	chr10:55118076-55118077	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573821584	chr10:55118092-55118093	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570365113	chr10:55118121-55118122	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11003590	chr10:55118155-55118156	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs553334614	chr10:55118180-55118181	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139672742	chr10:55118181-55118182	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181587597	chr10:55118185-55118186	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78793273	chr10:55118190-55118191	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113405350	chr10:55118196-55118197	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368027823	chr10:55118212-55118213	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529135016	chr10:55118219-55118220	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73359437	chr10:55118270-55118271	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs199753348	chr10:55118315-55118316	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543622284	chr10:55118361-55118362	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540333364	chr10:55118381-55118382	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12251771	chr10:55118404-55118405	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs537580085	chr10:55118413-55118414	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12266915	chr10:55118441-55118442	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs528067696	chr10:55118442-55118443	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550971658	chr10:55118445-55118446	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553485020	chr10:55118531-55118532	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571227042	chr10:55118597-55118598	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186144448	chr10:55118607-55118608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190805180	chr10:55118639-55118640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567434145	chr10:55118768-55118769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370392124	chr10:55118796-55118797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12252041	chr10:55118816-55118817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12245300	chr10:55118824-55118825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533567506	chr10:55118840-55118841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573187493	chr10:55118850-55118851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534971194	chr10:55118864-55118865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558202970	chr10:55118909-55118910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560556162	chr10:55118910-55118911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11003591	chr10:55118969-55118970	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs111868231	chr10:55118979-55118980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563657057	chr10:55119022-55119023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149759534	chr10:55119036-55119037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12266888	chr10:55119042-55119043	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:66)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55116000-55118400	Enhancers	HMEC	breast
2	chr10:55116400-55118000	Enhancers	NHEK	skin
3	chr10:55116400-55118600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr10:55116800-55117800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr10:55116800-55117800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr10:55116800-55118000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr10:55116800-55118200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr10:55117000-55119400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr10:55117200-55117800	Enhancers	Fetal Heart	heart
10	chr10:55117200-55118400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr10:55117200-55119400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr10:55117200-55119400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr10:55117200-55119600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr10:55117400-55118200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr10:55117400-55118600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr10:55117400-55118600	Enhancers	H9 Cell Line	embryonic stem cell
17	chr10:55117400-55118600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr10:55117400-55119400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr10:55117400-55119600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr10:55117600-55119200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr10:55117600-55130000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr10:55118000-55118600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr10:55118600-55119800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr10:55118600-55124600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr10:55119200-55121800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr10:55119400-55120000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr10:55119400-55124600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr10:55119400-55124600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr10:55119600-55124600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr10:55120000-55120200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
31	chr10:55120600-55123600	Enhancers	Liver	Liver
32	chr10:55121200-55122200	Enhancers	HepG2	liver
33	chr10:55121400-55122000	Enhancers	Adipose Nuclei	Adipose
34	chr10:55121800-55122200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr10:55122200-55124600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr10:55124400-55124800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr10:55124600-55124800	Enhancers	H9 Cell Line	embryonic stem cell
38	chr10:55124600-55125000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr10:55124600-55125000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr10:55124600-55125000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr10:55124600-55125200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr10:55124600-55125400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr10:55125000-55130000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr10:55129800-55130000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr10:55130000-55130400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr10:55130000-55130400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
47	chr10:55130000-55130800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr10:55130400-55136800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr10:55130800-55141400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr10:55139600-55140200	Enhancers	Fetal Intestine Small	intestine

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