Variant report

Variant	esv1833464
Chromosome Location	chr21:41383329-41419524
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:41383706..41385692-chr21:41388800..41391393,3	MCF-7	breast:
2	chr21:41402040..41404933-chr21:41440004..41442834,2	MCF-7	breast:
3	chr21:41415165..41415979-chr21:41492540..41493376,2	MCF-7	breast:
4	chr21:41416823..41418330-chr21:41423023..41425873,2	MCF-7	breast:
5	chr21:41414031..41416656-chr21:41419101..41422098,2	MCF-7	breast:
6	chr21:41383706..41385692-chr21:41388800..41391393,3	MCF-7	breast:
7	chr21:41413934..41415711-chr21:41758526..41760794,2	MCF-7	breast:
8	chr21:41414849..41415999-chr21:41492535..41493201,5	MCF-7	breast:
9	chr21:41239028..41239891-chr21:41414967..41415856,2	MCF-7	breast:
10	chr21:41238980..41239748-chr21:41415610..41416415,2	MCF-7	breast:
11	chr21:41414031..41416656-chr21:41419101..41422098,2	MCF-7	breast:
12	chr21:41365105..41367239-chr21:41382662..41384193,2	MCF-7	breast:
13	chr21:41417842..41420544-chr21:41423404..41426332,2	MCF-7	breast:
14	chr21:41159977..41160541-chr21:41415064..41415828,3	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	DSCAM	hsa-miR-196b-5p	chr21:41384899-41384921

Variant related genes	Relation type
ENSG00000183036	chromatin interactions

Extended variants
information (count: 1622 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1622 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563870465	chr21:41383382-41383383	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141835760	chr21:41383386-41383387	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546435025	chr21:41383410-41383411	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4818107	chr21:41383412-41383413	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
5	rs150624375	chr21:41383416-41383417	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2837372	chr21:41383468-41383469	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs190459878	chr21:41383515-41383516	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546508622	chr21:41383525-41383526	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74926034	chr21:41383540-41383541	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10706289	chr21:41383541-41383542	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192444994	chr21:41383559-41383560	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550984744	chr21:41383560-41383561	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571005435	chr21:41383612-41383613	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539895590	chr21:41383670-41383671	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138906967	chr21:41383703-41383704	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573324880	chr21:41383719-41383720	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536171154	chr21:41383728-41383729	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184511414	chr21:41383753-41383754	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575882032	chr21:41383755-41383756	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188861113	chr21:41383780-41383781	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4818108	chr21:41383783-41383784	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs577319955	chr21:41383787-41383788	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181312478	chr21:41383788-41383789	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75871317	chr21:41383806-41383807	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs368901084	chr21:41383809-41383810	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs551046084	chr21:41383839-41383840	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs567671735	chr21:41383840-41383841	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs75216349	chr21:41383841-41383842	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs73221333	chr21:41383937-41383938	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs199680607	chr21:41384000-41384001	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs369073384	chr21:41384003-41384004	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs397746605	chr21:41384009-41384010	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs567880992	chr21:41384022-41384023	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs550998885	chr21:41384024-41384025	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs570820639	chr21:41384028-41384029	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs142855365	chr21:41384033-41384034	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs547089501	chr21:41384037-41384038	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs374620979	chr21:41384076-41384077	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs377633579	chr21:41384087-41384088	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs186370640	chr21:41384090-41384091	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs147433368	chr21:41384091-41384092	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs139616155	chr21:41384123-41384124	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs575309612	chr21:41384142-41384143	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs189261487	chr21:41384204-41384205	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544385922	chr21:41384247-41384248	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs180684073	chr21:41384259-41384260	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185916386	chr21:41384264-41384265	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191213760	chr21:41384306-41384307	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372785678	chr21:41384330-41384331	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570126800	chr21:41384341-41384342	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Lymphoma	21487021	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41378200-41383800	Weak transcription	Fetal Brain Female	brain
2	chr21:41381400-41390800	Weak transcription	Brain Germinal Matrix	brain
3	chr21:41381600-41383400	Enhancers	Adipose Nuclei	Adipose
4	chr21:41381600-41386400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr21:41382000-41383800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr21:41382200-41386200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr21:41383000-41384000	Enhancers	Rectal Smooth Muscle	rectum
8	chr21:41383000-41384200	Enhancers	Fetal Stomach	stomach
9	chr21:41383000-41384400	Enhancers	Colon Smooth Muscle	Colon
10	chr21:41383200-41383600	Enhancers	Fetal Muscle Leg	muscle
11	chr21:41383800-41384200	Strong transcription	Fetal Brain Female	brain
12	chr21:41383800-41384200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr21:41383800-41385800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr21:41384200-41385000	Weak transcription	Fetal Brain Female	brain
15	chr21:41384400-41386800	Weak transcription	Colon Smooth Muscle	Colon
16	chr21:41385000-41386000	Strong transcription	Fetal Brain Female	brain
17	chr21:41385200-41388200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr21:41385800-41413400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr21:41386000-41414000	Weak transcription	Fetal Brain Female	brain
20	chr21:41386200-41387000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr21:41386400-41386600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr21:41386800-41387200	Enhancers	Colon Smooth Muscle	Colon
23	chr21:41387000-41388800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr21:41387800-41388800	Enhancers	Brain Anterior Caudate	brain
25	chr21:41388800-41391200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr21:41390800-41391200	Enhancers	Brain Germinal Matrix	brain
27	chr21:41391200-41392600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr21:41392600-41397800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr21:41397800-41398000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr21:41398000-41400600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr21:41398400-41403000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr21:41399200-41424600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr21:41400000-41418000	Weak transcription	Brain Hippocampus Middle	brain
34	chr21:41400400-41400800	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr21:41400600-41405400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr21:41400800-41404800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr21:41401400-41401600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr21:41401600-41421000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr21:41402600-41413800	Weak transcription	Fetal Muscle Leg	muscle
40	chr21:41403000-41403800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr21:41403200-41405600	Weak transcription	Fetal Brain Male	brain
42	chr21:41403800-41421600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr21:41404800-41405000	Enhancers	H9 Cell Line	embryonic stem cell
44	chr21:41404800-41405000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr21:41404800-41405000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr21:41404800-41405000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr21:41404800-41405200	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr21:41404800-41405600	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr21:41404800-41405600	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr21:41405000-41405400	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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