Variant report

Variant	esv1001778
Chromosome Location	chr10:49418866-49429648
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:49414468..49418793-chr10:49423679..49426769,3	K562	blood:
2	chr10:49423127..49424126-chr10:49497102..49498218,5	MCF-7	breast:
3	chr10:49414750..49417091-chr10:49417343..49420422,3	K562	blood:
4	chr10:49423548..49424230-chr10:49863873..49864448,2	K562	blood:
5	chr10:49419791..49421477-chr10:49492128..49494569,2	K562	blood:
6	chr10:49423588..49424151-chr10:49714065..49715162,3	MCF-7	breast:
7	chr10:49423310..49424126-chr10:49540299..49540827,2	MCF-7	breast:
8	chr10:49414468..49419005-chr10:49423679..49427949,4	K562	blood:
9	chr10:49414468..49419005-chr10:49423679..49427949,4	K562	blood:
10	chr10:49423481..49424232-chr10:49497847..49498349,2	K562	blood:
11	chr10:49423144..49424160-chr10:49497116..49498379,10	MCF-7	breast:
12	chr10:49422440..49425186-chr10:49494550..49500073,5	MCF-7	breast:
13	chr10:49423270..49424166-chr10:49714289..49715192,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000128805	chromatin interactions

Extended variants
information (count: 439 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:439 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559205411	chr10:49418882-49418883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372619885	chr10:49418986-49418987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533018053	chr10:49418996-49418997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551548548	chr10:49419117-49419118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369460004	chr10:49419136-49419137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570859878	chr10:49419153-49419154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114468861	chr10:49419156-49419157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72792228	chr10:49419164-49419165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139639899	chr10:49419172-49419173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535833804	chr10:49419197-49419198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73294220	chr10:49419220-49419221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs17011003	chr10:49419249-49419250	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs146551504	chr10:49419250-49419251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148710329	chr10:49419266-49419267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376870396	chr10:49419275-49419276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576069565	chr10:49419283-49419284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181979206	chr10:49419315-49419316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142460773	chr10:49419334-49419335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184286732	chr10:49419335-49419336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113263235	chr10:49419365-49419366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs151316269	chr10:49419384-49419385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533207993	chr10:49419425-49419426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17011006	chr10:49419429-49419430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs563463736	chr10:49419450-49419451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs280617	chr10:49419466-49419467	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs548449311	chr10:49419477-49419478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181087544	chr10:49419481-49419482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186588493	chr10:49419507-49419508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568556511	chr10:49419547-49419548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535329953	chr10:49419548-49419549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61840043	chr10:49419563-49419564	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs547764560	chr10:49419637-49419638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191335935	chr10:49419643-49419644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140600847	chr10:49419697-49419698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558087553	chr10:49419698-49419699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375946736	chr10:49419715-49419716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4838400	chr10:49419748-49419749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537234710	chr10:49419780-49419781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555085806	chr10:49419818-49419819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs180858993	chr10:49419847-49419848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76831801	chr10:49419861-49419862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77730269	chr10:49419870-49419871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185421524	chr10:49419875-49419876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35326779	chr10:49419880-49419881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34151240	chr10:49419889-49419890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs17770021	chr10:49419975-49419976	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs563419371	chr10:49419981-49419982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370424608	chr10:49419998-49419999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1864345	chr10:49420008-49420009	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs142425834	chr10:49420026-49420027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Acute myeloid leukemia	19651601	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Rett syndrome	21593744	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49396000-49420800	Weak transcription	Brain Anterior Caudate	brain
2	chr10:49415200-49423800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr10:49417200-49432000	Weak transcription	Right Atrium	heart
4	chr10:49418000-49421200	Weak transcription	Brain Angular Gyrus	brain
5	chr10:49419800-49420000	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr10:49419800-49423200	Weak transcription	Fetal Brain Male	brain
7	chr10:49420000-49421000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr10:49420400-49421200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr10:49420800-49421400	Enhancers	Brain Anterior Caudate	brain
10	chr10:49420800-49421800	Enhancers	Brain Substantia Nigra	brain
11	chr10:49421000-49421400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr10:49421000-49421400	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr10:49421000-49421400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr10:49421000-49421800	Enhancers	Brain Cingulate Gyrus	brain
15	chr10:49421000-49422200	Enhancers	Brain Hippocampus Middle	brain
16	chr10:49421200-49421400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr10:49421200-49421600	Enhancers	Brain Angular Gyrus	brain
18	chr10:49421400-49422800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr10:49421400-49423200	Weak transcription	Brain Anterior Caudate	brain
20	chr10:49421600-49422800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr10:49421800-49423400	Weak transcription	Brain Substantia Nigra	brain
22	chr10:49422800-49423200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr10:49422800-49423400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr10:49423200-49423600	Enhancers	Brain Anterior Caudate	brain
25	chr10:49423200-49423600	Enhancers	Fetal Brain Male	brain
26	chr10:49423200-49423600	Enhancers	GM12878-XiMat	blood
27	chr10:49423400-49423600	Enhancers	Brain Substantia Nigra	brain
28	chr10:49423600-49426400	Weak transcription	Brain Anterior Caudate	brain
29	chr10:49423800-49424400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr10:49423800-49424800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr10:49423800-49424800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr10:49423800-49424800	Enhancers	NHEK	skin
33	chr10:49423800-49425000	Enhancers	HMEC	breast
34	chr10:49423800-49426200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr10:49426200-49430800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr10:49426400-49426800	Strong transcription	Brain Anterior Caudate	brain
37	chr10:49426800-49430400	Weak transcription	Brain Anterior Caudate	brain

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