Variant report

Variant	esv3421111
Chromosome Location	chr10:49590046-49592144
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49584866..49587796-chr10:49589937..49592814,2	MCF-7	breast:
2	chr10:49590873..49596805-chr10:49597234..49602162,8	K562	blood:
3	chr10:49587453..49590173-chr10:49593697..49595801,2	K562	blood:
4	chr10:49589540..49591381-chr10:49641567..49643143,2	K562	blood:
5	chr10:49584975..49587441-chr10:49590002..49593282,3	K562	blood:
6	chr10:49584988..49587799-chr10:49588143..49591502,3	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533516449	chr10:49590086-49590087	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs549659965	chr10:49590096-49590097	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs553366696	chr10:49590135-49590136	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs191541834	chr10:49590226-49590227	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs184907625	chr10:49590236-49590237	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs532112451	chr10:49590307-49590308	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs189620523	chr10:49590475-49590476	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs573360430	chr10:49590598-49590599	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs527240951	chr10:49590614-49590615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145757427	chr10:49590655-49590656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542315884	chr10:49590657-49590658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138933194	chr10:49590659-49590660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1978998	chr10:49590756-49590757	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs550827784	chr10:49590783-49590784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142863547	chr10:49590796-49590797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4838589	chr10:49590931-49590932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146988093	chr10:49590941-49590942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4838406	chr10:49590951-49590952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs181635312	chr10:49590965-49590966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141088649	chr10:49590983-49590984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34562966	chr10:49590984-49590985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145457029	chr10:49590993-49590994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397845095	chr10:49590994-49590995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201235335	chr10:49590995-49590996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199599481	chr10:49590997-49590998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572969099	chr10:49591037-49591038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540407633	chr10:49591041-49591042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569298661	chr10:49591067-49591068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559619192	chr10:49591091-49591092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186778881	chr10:49591118-49591119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201000293	chr10:49591137-49591138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533475286	chr10:49591160-49591161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551527355	chr10:49591209-49591210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370242597	chr10:49591212-49591213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138053595	chr10:49591277-49591278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369071694	chr10:49591338-49591339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189746666	chr10:49591341-49591342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567942492	chr10:49591368-49591369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528704475	chr10:49591371-49591372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547166533	chr10:49591413-49591414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546978726	chr10:49591448-49591449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2463960	chr10:49591456-49591457	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs17770615	chr10:49591537-49591538	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs181337375	chr10:49591586-49591587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144758997	chr10:49591616-49591617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535811704	chr10:49591648-49591649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2698761	chr10:49591718-49591719	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs573072934	chr10:49591733-49591734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568944600	chr10:49591740-49591741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368181019	chr10:49591765-49591766	Enhancers 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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49573600-49591200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:49585200-49591200	Weak transcription	Fetal Heart	heart
3	chr10:49586200-49591200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr10:49586400-49592400	Weak transcription	Fetal Kidney	kidney
5	chr10:49586400-49592600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr10:49587600-49599600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr10:49589200-49591200	Weak transcription	K562	blood
8	chr10:49589600-49591200	Weak transcription	HSMM	muscle
9	chr10:49589600-49592000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:49589800-49590200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
11	chr10:49589800-49590200	ZNF genes & repeats	Aorta	Aorta
12	chr10:49589800-49590200	ZNF genes & repeats	Fetal Lung	lung
13	chr10:49589800-49590200	ZNF genes & repeats	Left Ventricle	heart
14	chr10:49589800-49590200	ZNF genes & repeats	Pancreas	Pancrea
15	chr10:49589800-49590200	Enhancers	A549	lung
16	chr10:49589800-49590400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:49589800-49590400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
18	chr10:49589800-49590600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr10:49590000-49590200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr10:49590000-49590200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr10:49590000-49590200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr10:49590000-49590200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr10:49590000-49590200	ZNF genes & repeats	Fetal Muscle Leg	muscle
24	chr10:49590000-49590200	ZNF genes & repeats	Ovary	ovary
25	chr10:49590000-49590200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
26	chr10:49590000-49590200	ZNF genes & repeats	HSMMtube	muscle
27	chr10:49590000-49590400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
28	chr10:49590200-49590400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr10:49590200-49591200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr10:49590200-49591600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr10:49590200-49591600	Weak transcription	Fetal Muscle Leg	muscle
32	chr10:49590200-49592000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr10:49590200-49592000	Weak transcription	Ovary	ovary
34	chr10:49590200-49592600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr10:49590200-49592600	Weak transcription	Fetal Lung	lung
36	chr10:49590200-49592800	Weak transcription	HSMMtube	muscle
37	chr10:49590200-49596400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr10:49590200-49596800	Weak transcription	Left Ventricle	heart
39	chr10:49590200-49598400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr10:49590200-49598800	Weak transcription	A549	lung
41	chr10:49590200-49599600	Weak transcription	Pancreas	Pancrea
42	chr10:49590400-49591200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr10:49590400-49591200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr10:49590400-49598600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr10:49590400-49599000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr10:49590600-49591800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr10:49591000-49591600	Enhancers	NHEK	skin
48	chr10:49591000-49592000	Enhancers	HUVEC	blood vessel
49	chr10:49591000-49592800	Enhancers	HMEC	breast
50	chr10:49591000-49593400	Enhancers	Fetal Intestine Large	intestine

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