Variant report

Variant	esv1848219
Chromosome Location	chr10:50897864-50903035
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 145 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1025740	chr10:50897864-50897865	Bivalent Enhancer Bivalent/Poised TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545058767	chr10:50897869-50897870	Bivalent Enhancer Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376687728	chr10:50897895-50897896	Bivalent Enhancer Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs55959413	chr10:50897900-50897901	Bivalent Enhancer Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1153790	chr10:50897901-50897902	Bivalent Enhancer Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1153791	chr10:50897909-50897910	Bivalent Enhancer Bivalent/Poised TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs556976073	chr10:50897931-50897932	Bivalent Enhancer Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570685585	chr10:50897964-50897965	Bivalent Enhancer Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139372900	chr10:50897990-50897991	Bivalent Enhancer Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191919963	chr10:50898038-50898039	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530009281	chr10:50898131-50898132	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560701400	chr10:50898132-50898133	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529649908	chr10:50898137-50898138	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs71500281	chr10:50898138-50898139	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35169341	chr10:50898147-50898148	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539077713	chr10:50898152-50898153	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548101251	chr10:50898153-50898154	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115061758	chr10:50898166-50898167	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533518282	chr10:50898167-50898168	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1025741	chr10:50898187-50898188	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs143282052	chr10:50898191-50898192	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537070896	chr10:50898209-50898210	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147517277	chr10:50898224-50898225	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567304148	chr10:50898269-50898270	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1153792	chr10:50898300-50898301	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs552842662	chr10:50898304-50898305	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368474144	chr10:50898320-50898321	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577427565	chr10:50898329-50898330	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1025742	chr10:50898359-50898360	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs184349409	chr10:50898410-50898411	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187874658	chr10:50898414-50898415	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575327332	chr10:50898525-50898526	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375008206	chr10:50898648-50898649	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542343731	chr10:50898687-50898688	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560980006	chr10:50898729-50898730	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572873104	chr10:50898731-50898732	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570589352	chr10:50898805-50898806	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543955447	chr10:50898806-50898807	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560046821	chr10:50898864-50898865	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563846348	chr10:50898914-50898915	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533581047	chr10:50898945-50898946	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192977546	chr10:50898951-50898952	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112155043	chr10:50898954-50898955	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184222728	chr10:50898955-50898956	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1153793	chr10:50898969-50898970	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs567367634	chr10:50898979-50898980	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534650936	chr10:50899031-50899032	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189644290	chr10:50899053-50899054	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571182203	chr10:50899080-50899081	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538538043	chr10:50899116-50899117	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Cancer	21183584	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
Chronic lymphocytic leukemia	21546498	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Schizophrenia	23813976	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	21948486	CNVD
cleft palate	21948486	CNVD
Encephalopathy	21948486	CNVD
Lung cancer	18438408	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Non-syndromic sensorineural hearing loss	17122850	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
XY gonadal dysgenesis	20685758	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50896000-50899200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr10:50897000-50900200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
3	chr10:50897200-50898000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
4	chr10:50897600-50898600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr10:50897600-50898600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:50897800-50898000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
7	chr10:50897800-50898200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
8	chr10:50897800-50898200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
9	chr10:50897800-50898600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr10:50898000-50898200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr10:50898000-50898200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
12	chr10:50898000-50898400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:50898000-50898400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
14	chr10:50898200-50898400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
15	chr10:50898200-50898600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr10:50898200-50898600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr10:50898200-50899400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr10:50898200-50899600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
19	chr10:50898400-50898600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
20	chr10:50898400-50898600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
21	chr10:50898400-50899200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
22	chr10:50898600-50898800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr10:50898600-50898800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr10:50898600-50899000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
25	chr10:50898600-50899000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
26	chr10:50898600-50899200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
27	chr10:50898600-50899400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
28	chr10:50898600-50899400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
29	chr10:50898600-50899600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
30	chr10:50898600-50900200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
31	chr10:50898800-50899000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr10:50898800-50899000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr10:50898800-50899000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
34	chr10:50898800-50899000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr10:50898800-50899000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr10:50898800-50900000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr10:50899000-50899400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr10:50899000-50900000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
39	chr10:50899000-50900000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
40	chr10:50899000-50900200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
41	chr10:50899000-50900200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr10:50899200-50899600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
43	chr10:50899400-50899600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
44	chr10:50899400-50899600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
45	chr10:50899400-50900200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
46	chr10:50899600-50899800	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
47	chr10:50899600-50899800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
48	chr10:50899600-50899800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
49	chr10:50899600-50900200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
50	chr10:50899600-50900400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell

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