Variant report

Variant	esv2762859
Chromosome Location	chr10:44193509-44200087
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:44185266..44187745-chr10:44193521..44195078,2	MCF-7	breast:
2	chr10:44185584..44187183-chr10:44191790..44193996,2	K562	blood:
3	chr10:44193644..44194206-chr10:44668785..44669607,2	MCF-7	breast:
4	chr10:44185602..44188536-chr10:44195679..44198454,2	MCF-7	breast:

Extended variants
information (count: 280 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10899859	chr10:44193509-44193510	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs187366633	chr10:44193517-44193518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150312003	chr10:44193612-44193613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562186036	chr10:44193686-44193687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544443839	chr10:44193763-44193764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556066337	chr10:44193767-44193768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79170249	chr10:44193785-44193786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566212348	chr10:44193799-44193800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138127972	chr10:44193866-44193867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75802378	chr10:44193867-44193868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564132467	chr10:44193894-44193895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575815136	chr10:44193898-44193899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537708235	chr10:44193902-44193903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10899860	chr10:44193912-44193913	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs117576870	chr10:44193937-44193938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535631453	chr10:44193939-44193940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17154150	chr10:44193949-44193950	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs10899861	chr10:44193976-44193977	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs546185642	chr10:44194121-44194122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142139551	chr10:44194122-44194123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74740088	chr10:44194130-44194131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543810211	chr10:44194189-44194190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562020875	chr10:44194260-44194261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193198621	chr10:44194303-44194304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114659188	chr10:44194400-44194401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559835078	chr10:44194448-44194449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540233084	chr10:44194481-44194482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183377684	chr10:44194549-44194550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374281882	chr10:44194550-44194551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11238635	chr10:44194578-44194579	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs146217628	chr10:44194594-44194595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531332745	chr10:44194605-44194606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549842176	chr10:44194606-44194607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568328907	chr10:44194611-44194612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10508869	chr10:44194617-44194618	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs553964970	chr10:44194618-44194619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566191342	chr10:44194622-44194623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs61405658	chr10:44194638-44194639	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs57137545	chr10:44194656-44194657	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs17154164	chr10:44194697-44194698	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs17154168	chr10:44194700-44194701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189180530	chr10:44194740-44194741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75020331	chr10:44194773-44194774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs193051321	chr10:44194781-44194782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559480020	chr10:44194822-44194823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533902879	chr10:44194829-44194830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138910983	chr10:44194847-44194848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184544444	chr10:44194849-44194850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188133544	chr10:44194896-44194897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531224480	chr10:44195011-44195012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Lung cancer	18438408	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
Mental retardation	21062444	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	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
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44188000-44194600	Weak transcription	Ovary	ovary
2	chr10:44188000-44195000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr10:44188000-44196800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:44189600-44195400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr10:44191800-44196400	Enhancers	Fetal Heart	heart
6	chr10:44191800-44197000	Enhancers	Right Ventricle	heart
7	chr10:44192000-44193800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr10:44192200-44193600	Weak transcription	Spleen	Spleen
9	chr10:44192400-44194600	Enhancers	Adipose Nuclei	Adipose
10	chr10:44192400-44195400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr10:44192600-44195800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:44192600-44196000	Weak transcription	Fetal Kidney	kidney
13	chr10:44192600-44196600	Enhancers	Fetal Muscle Trunk	muscle
14	chr10:44192800-44194600	Enhancers	Lung	lung
15	chr10:44192800-44196000	Enhancers	Left Ventricle	heart
16	chr10:44193000-44196000	Enhancers	Right Atrium	heart
17	chr10:44193400-44194600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr10:44193400-44194600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr10:44193600-44194000	Enhancers	Primary hematopoietic stem cells	blood
20	chr10:44193600-44194200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr10:44193600-44194400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr10:44193600-44194800	Enhancers	Spleen	Spleen
23	chr10:44193800-44195000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr10:44193800-44196000	Enhancers	Fetal Lung	lung
25	chr10:44193800-44196200	Enhancers	HSMMtube	muscle
26	chr10:44194400-44196400	Enhancers	Fetal Muscle Leg	muscle
27	chr10:44194400-44196400	Enhancers	Fetal Stomach	stomach
28	chr10:44194600-44195200	Enhancers	Fetal Brain Female	brain
29	chr10:44194600-44195800	Enhancers	Ovary	ovary
30	chr10:44194600-44196200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr10:44194800-44197800	Weak transcription	Spleen	Spleen
32	chr10:44195000-44195200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr10:44195000-44195200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr10:44195200-44195400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
35	chr10:44195400-44196400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr10:44195400-44196400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr10:44195600-44195800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr10:44195600-44196200	Enhancers	Osteobl	bone
39	chr10:44195600-44196400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr10:44195600-44196800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr10:44195800-44196000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr10:44195800-44196000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr10:44195800-44196200	Enhancers	NHDF-Ad	bronchial
44	chr10:44195800-44196800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr10:44195800-44203200	Weak transcription	Ovary	ovary
46	chr10:44196000-44196200	Enhancers	Fetal Kidney	kidney
47	chr10:44196000-44198800	Weak transcription	Left Ventricle	heart
48	chr10:44196000-44203800	Weak transcription	Right Atrium	heart
49	chr10:44196200-44196400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr10:44196200-44196800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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