Variant report

Variant	esv3361331
Chromosome Location	chr10:50312806-50313247
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	chr10:50304348..50306100-chr10:50311387..50313034,2	K562	blood:
2	chr10:50308627..50310723-chr10:50311028..50313744,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59609177	chr10:50312806-50312807	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188380217	chr10:50312807-50312808	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554505423	chr10:50312815-50312816	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544425179	chr10:50312841-50312842	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201955659	chr10:50312846-50312847	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10572483	chr10:50312850-50312851	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77597111	chr10:50312853-50312854	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562989564	chr10:50312865-50312866	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144023297	chr10:50312876-50312877	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530093856	chr10:50312904-50312905	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78567731	chr10:50312905-50312906	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560355815	chr10:50312906-50312907	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61848382	chr10:50312914-50312915	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10572484	chr10:50312932-50312933	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61031564	chr10:50312933-50312934	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374401829	chr10:50312943-50312944	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143283207	chr10:50313008-50313009	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs58170936	chr10:50313009-50313010	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs60509810	chr10:50313011-50313012	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369134330	chr10:50313032-50313033	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141563757	chr10:50313044-50313045	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150604755	chr10:50313054-50313055	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7069441	chr10:50313055-50313056	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs11415295	chr10:50313079-50313080	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371115394	chr10:50313080-50313081	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116670902	chr10:50313112-50313113	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541179689	chr10:50313157-50313158	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561379251	chr10:50313166-50313167	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533413017	chr10:50313174-50313175	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148246973	chr10:50313205-50313206	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs58965887	chr10:50313210-50313211	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong 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
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
T-cell primary immunodeficiency	21948486	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	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
Hypotonia	21948486	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50290800-50315400	Weak transcription	Fetal Intestine Small	intestine
2	chr10:50298600-50314400	Weak transcription	NHDF-Ad	bronchial
3	chr10:50299600-50314400	Weak transcription	HSMMtube	muscle
4	chr10:50300800-50314600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:50303200-50314600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr10:50303400-50313600	Weak transcription	Brain Substantia Nigra	brain
7	chr10:50303400-50314400	Weak transcription	Brain Anterior Caudate	brain
8	chr10:50303600-50314400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr10:50303600-50314400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr10:50303800-50314600	Weak transcription	Esophagus	oesophagus
11	chr10:50304000-50314400	Weak transcription	Brain Angular Gyrus	brain
12	chr10:50304600-50314400	Weak transcription	Liver	Liver
13	chr10:50304800-50317600	Weak transcription	Fetal Heart	heart
14	chr10:50305400-50314400	Weak transcription	NHLF	lung
15	chr10:50305800-50313600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr10:50306400-50314600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr10:50307400-50314200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:50307400-50314400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr10:50310200-50314400	Weak transcription	Adipose Nuclei	Adipose
20	chr10:50310600-50313200	Enhancers	Brain Hippocampus Middle	brain
21	chr10:50310800-50314400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr10:50311600-50313600	Enhancers	Right Atrium	heart
23	chr10:50311800-50317800	Weak transcription	Fetal Intestine Large	intestine
24	chr10:50312000-50314400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr10:50312200-50320400	Enhancers	Colon Smooth Muscle	Colon
26	chr10:50312400-50313400	Enhancers	Right Ventricle	heart
27	chr10:50312400-50313600	Enhancers	Ovary	ovary
28	chr10:50312400-50315600	Enhancers	Brain Germinal Matrix	brain
29	chr10:50312400-50316200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr10:50312600-50313400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
31	chr10:50312600-50313600	Enhancers	Fetal Lung	lung
32	chr10:50312600-50314600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr10:50312600-50314600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr10:50312600-50314600	Weak transcription	Lung	lung
35	chr10:50312600-50316400	Weak transcription	K562	blood
36	chr10:50312600-50317000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr10:50312600-50322800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr10:50312800-50313400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
39	chr10:50312800-50313600	Strong transcription	Fetal Muscle Leg	muscle
40	chr10:50312800-50314000	Enhancers	Fetal Stomach	stomach
41	chr10:50312800-50314400	Weak transcription	Left Ventricle	heart
42	chr10:50312800-50314600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr10:50312800-50315000	Weak transcription	Aorta	Aorta
44	chr10:50313200-50314400	Weak transcription	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links