Variant report

Variant	nsv1066099
Chromosome Location	chr21:41302668-41341072
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:41318272..41319886-chr21:41334706..41336966,2	MCF-7	breast:
2	chr21:41301717..41304496-chr21:41311264..41313673,2	MCF-7	breast:
3	chr21:41301717..41304496-chr21:41311264..41313673,2	MCF-7	breast:
4	chr21:41318272..41319886-chr21:41334706..41336966,2	MCF-7	breast:

Extended variants
information (count: 1653 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1653 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538135211	chr21:41302674-41302675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551027700	chr21:41302675-41302676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570824527	chr21:41302729-41302730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149791810	chr21:41302741-41302742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75553894	chr21:41302780-41302781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562306248	chr21:41302781-41302782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111474699	chr21:41302840-41302841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78490877	chr21:41302905-41302906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145770283	chr21:41302907-41302908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375755110	chr21:41302919-41302920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140470963	chr21:41302947-41302948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192089082	chr21:41302972-41302973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563758438	chr21:41302980-41302981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12152099	chr21:41303073-41303074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs145638852	chr21:41303114-41303115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560152253	chr21:41303126-41303127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528973163	chr21:41303128-41303129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2837296	chr21:41303134-41303135	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs548746284	chr21:41303135-41303136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548234327	chr21:41303179-41303180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2837297	chr21:41303181-41303182	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs79068485	chr21:41303233-41303234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551673015	chr21:41303234-41303235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570861127	chr21:41303251-41303252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184226724	chr21:41303276-41303277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546665254	chr21:41303296-41303297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187056597	chr21:41303322-41303323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535554341	chr21:41303360-41303361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551975941	chr21:41303366-41303367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555577857	chr21:41303383-41303384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550056314	chr21:41303434-41303435	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs369140588	chr21:41303457-41303458	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs538171569	chr21:41303486-41303487	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs13052281	chr21:41303539-41303540	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs541451409	chr21:41303568-41303569	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs146515600	chr21:41303581-41303582	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs374338829	chr21:41303605-41303606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76494003	chr21:41303611-41303612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192714965	chr21:41303627-41303628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2837298	chr21:41303640-41303641	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs79539349	chr21:41303700-41303701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575598534	chr21:41303740-41303741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2837299	chr21:41303762-41303763	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs2837300	chr21:41303778-41303779	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs545331396	chr21:41303779-41303780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141153186	chr21:41303823-41303824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184140988	chr21:41303832-41303833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143122103	chr21:41303865-41303866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2837301	chr21:41303876-41303877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs2837302	chr21:41303895-41303896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:71)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41292000-41303600	Weak transcription	Brain Anterior Caudate	brain
2	chr21:41299800-41323600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:41300400-41303400	Weak transcription	Pancreas	Pancrea
4	chr21:41303400-41303600	ZNF genes & repeats	Pancreas	Pancrea
5	chr21:41303600-41303800	Enhancers	Brain Anterior Caudate	brain
6	chr21:41303600-41310200	Weak transcription	Pancreas	Pancrea
7	chr21:41304000-41304200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
8	chr21:41310000-41310200	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr21:41310000-41310600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr21:41310000-41310600	Enhancers	Colon Smooth Muscle	Colon
11	chr21:41310200-41310400	Enhancers	Pancreas	Pancrea
12	chr21:41310200-41310600	Enhancers	Brain Hippocampus Middle	brain
13	chr21:41310200-41310600	Enhancers	Fetal Brain Female	brain
14	chr21:41310200-41310800	Enhancers	Stomach Smooth Muscle	stomach
15	chr21:41310600-41311600	Weak transcription	Fetal Brain Female	brain
16	chr21:41311600-41312000	Enhancers	Fetal Brain Female	brain
17	chr21:41313200-41313400	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr21:41318200-41318600	Enhancers	Fetal Stomach	stomach
19	chr21:41318200-41319200	Enhancers	Fetal Muscle Leg	muscle
20	chr21:41318800-41319800	Enhancers	Fetal Stomach	stomach
21	chr21:41319200-41322200	Weak transcription	Fetal Muscle Leg	muscle
22	chr21:41321600-41322800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr21:41322000-41322800	Enhancers	Rectal Smooth Muscle	rectum
24	chr21:41322200-41322400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr21:41322200-41322800	Enhancers	Fetal Muscle Leg	muscle
26	chr21:41322200-41325600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr21:41322400-41323400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
28	chr21:41322400-41323400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr21:41322600-41322800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr21:41322800-41323000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
31	chr21:41322800-41323200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
32	chr21:41322800-41323200	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr21:41322800-41324000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr21:41322800-41327400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr21:41323000-41323200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
36	chr21:41323000-41324200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr21:41323000-41324400	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr21:41323000-41324400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
39	chr21:41323200-41323400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
40	chr21:41323200-41323800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr21:41323200-41323800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr21:41323200-41324200	Enhancers	Fetal Brain Male	brain
43	chr21:41323200-41324400	Enhancers	Placenta	Placenta
44	chr21:41323400-41323800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr21:41323400-41323800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr21:41323400-41324800	Enhancers	H1 Cell Line	embryonic stem cell
47	chr21:41323400-41325200	Enhancers	H9 Cell Line	embryonic stem cell
48	chr21:41323600-41324000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr21:41323600-41324000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr21:41323600-41324200	Enhancers	Fetal Brain Female	brain

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