Variant report

Variant	esv3341340
Chromosome Location	chr10:50239946-50244344
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:50243019..50245477-chr10:50248832..50250712,2	MCF-7	breast:
2	chr10:50235643..50238061-chr10:50238727..50242186,3	K562	blood:
3	chr10:50239471..50243603-chr10:50247127..50250365,5	K562	blood:
4	chr10:50238868..50241425-chr10:50375110..50377223,2	K562	blood:
5	chr10:50242711..50245111-chr10:50261545..50265168,4	MCF-7	breast:
6	chr10:50240413..50242966-chr10:50247127..50249363,2	K562	blood:
7	chr10:50229481..50231907-chr10:50238016..50240371,2	K562	blood:
8	chr10:50219935..50221949-chr10:50243957..50245901,2	K562	blood:

No data

Extended variants
information (count: 204 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186698777	chr10:50239995-50239996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12769016	chr10:50239997-50239998	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs193014909	chr10:50240004-50240005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113519196	chr10:50240019-50240020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537394271	chr10:50240104-50240105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555359980	chr10:50240124-50240125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373515766	chr10:50240127-50240128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2466750	chr10:50240165-50240166	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs527604243	chr10:50240176-50240177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2466749	chr10:50240208-50240209	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs141777588	chr10:50240219-50240220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146250054	chr10:50240240-50240241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185711659	chr10:50240276-50240277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79553893	chr10:50240279-50240280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61850676	chr10:50240309-50240310	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs189986646	chr10:50240314-50240315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2254151	chr10:50240339-50240340	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs561826382	chr10:50240355-50240356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139269139	chr10:50240361-50240362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367675520	chr10:50240387-50240388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182163302	chr10:50240427-50240428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533297158	chr10:50240469-50240470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551454871	chr10:50240538-50240539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569869696	chr10:50240540-50240541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545620408	chr10:50240550-50240551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114399424	chr10:50240562-50240563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184111816	chr10:50240569-50240570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549135313	chr10:50240572-50240573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188791906	chr10:50240573-50240574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149379782	chr10:50240575-50240576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553048420	chr10:50240598-50240599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571253827	chr10:50240617-50240618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373533051	chr10:50240660-50240661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72783181	chr10:50240672-50240673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538773602	chr10:50240694-50240695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556757584	chr10:50240716-50240717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530194741	chr10:50240764-50240765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575270836	chr10:50240800-50240801	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74566826	chr10:50240812-50240813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371377211	chr10:50240825-50240826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375670353	chr10:50240838-50240839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570342161	chr10:50240845-50240846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370287553	chr10:50240883-50240884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78838278	chr10:50240907-50240908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs137995320	chr10:50240918-50240919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74622742	chr10:50240923-50240924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377027500	chr10:50240937-50240938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574254277	chr10:50240948-50240949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114961398	chr10:50240954-50240955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559364150	chr10:50240969-50240970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50222800-50279000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr10:50223000-50254200	Weak transcription	NHDF-Ad	bronchial
3	chr10:50224400-50258200	Weak transcription	Brain Anterior Caudate	brain
4	chr10:50224600-50244800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:50227800-50243200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr10:50232200-50241800	Weak transcription	Fetal Kidney	kidney
7	chr10:50232400-50279200	Weak transcription	Brain Hippocampus Middle	brain
8	chr10:50232600-50245000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr10:50232800-50242000	Weak transcription	Brain Substantia Nigra	brain
10	chr10:50232800-50247800	Weak transcription	Right Atrium	heart
11	chr10:50232800-50255400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr10:50233000-50266000	Weak transcription	Colon Smooth Muscle	Colon
13	chr10:50233400-50241600	Weak transcription	Fetal Lung	lung
14	chr10:50233800-50247000	Weak transcription	Right Ventricle	heart
15	chr10:50233800-50261400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr10:50233800-50261400	Weak transcription	Spleen	Spleen
17	chr10:50234000-50249000	Strong transcription	Fetal Muscle Leg	muscle
18	chr10:50234000-50254200	Weak transcription	Left Ventricle	heart
19	chr10:50234200-50246800	Weak transcription	Fetal Intestine Small	intestine
20	chr10:50234800-50240800	Strong transcription	Fetal Muscle Trunk	muscle
21	chr10:50235200-50243000	Weak transcription	Lung	lung
22	chr10:50236200-50240800	Strong transcription	Ovary	ovary
23	chr10:50236600-50240600	Strong transcription	Adipose Nuclei	Adipose
24	chr10:50237400-50240800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr10:50237400-50240800	Strong transcription	Fetal Stomach	stomach
26	chr10:50237400-50244200	Strong transcription	Stomach Smooth Muscle	stomach
27	chr10:50237600-50240600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr10:50237600-50248800	Weak transcription	Liver	Liver
29	chr10:50238200-50240600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr10:50238600-50241600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr10:50238800-50241600	Weak transcription	Aorta	Aorta
32	chr10:50239200-50240200	Weak transcription	HSMMtube	muscle
33	chr10:50239800-50240600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:50240200-50240600	Strong transcription	HSMMtube	muscle
35	chr10:50240600-50244000	Weak transcription	Adipose Nuclei	Adipose
36	chr10:50240600-50244800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr10:50240600-50246600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr10:50240600-50247200	Weak transcription	HSMMtube	muscle
39	chr10:50240600-50247400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr10:50240800-50243000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr10:50240800-50243000	Weak transcription	Fetal Stomach	stomach
42	chr10:50240800-50243000	Weak transcription	Ovary	ovary
43	chr10:50240800-50246600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr10:50241600-50242000	Strong transcription	Aorta	Aorta
45	chr10:50241600-50242400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr10:50241600-50242400	Strong transcription	Fetal Lung	lung
47	chr10:50241600-50263200	Weak transcription	NHLF	lung
48	chr10:50241800-50242400	ZNF genes & repeats	Fetal Kidney	kidney
49	chr10:50242000-50242400	Strong transcription	Brain Substantia Nigra	brain
50	chr10:50242000-50243000	Weak transcription	Aorta	Aorta

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