Variant report

Variant	esv2751930
Chromosome Location	chr21:39917180-39956061
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:15)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:39928305..39930106-chr21:39932003..39933679,2	K562	blood:
2	chr21:39927283..39929950-chr21:39938124..39940095,2	MCF-7	breast:
3	chr21:39949761..39951330-chr21:39954291..39955884,2	K562	blood:
4	chr21:39949761..39951330-chr21:39954291..39955884,2	K562	blood:
5	chr21:39918506..39921305-chr21:39921863..39924114,3	MCF-7	breast:
6	chr21:39938475..39940465-chr21:39941181..39943748,2	MCF-7	breast:
7	chr21:39936720..39939586-chr21:39955260..39957011,2	MCF-7	breast:
8	chr21:39938475..39940465-chr21:39941181..39943748,2	MCF-7	breast:
9	chr21:39928305..39930106-chr21:39932003..39933679,2	K562	blood:
10	chr21:39952017..39953838-chr21:39962654..39965463,2	MCF-7	breast:
11	chr21:39927283..39929950-chr21:39938124..39940095,2	MCF-7	breast:
12	chr21:39951537..39953214-chr21:39954870..39957459,2	K562	blood:
13	chr21:39932487..39936262-chr21:39938528..39942043,3	MCF-7	breast:
14	chr21:39932487..39936262-chr21:39938528..39942043,3	MCF-7	breast:
15	chr21:39918506..39921305-chr21:39921863..39924114,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DSCR4-16	chr21:39947586-39947671	NONHSAT082106

No data

Variant related genes	Relation type
ENSG00000157554	chromatin interactions

Extended variants
information (count: 1629 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1629 , 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	rs2836502	chr21:39917180-39917181	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546255703	chr21:39917201-39917202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376355099	chr21:39917226-39917227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528465121	chr21:39917259-39917260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541960817	chr21:39917279-39917280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2836503	chr21:39917284-39917285	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs372319096	chr21:39917313-39917314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529888433	chr21:39917318-39917319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79921033	chr21:39917432-39917433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10483046	chr21:39917436-39917437	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs190165361	chr21:39917484-39917485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375418031	chr21:39917561-39917562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565341737	chr21:39917566-39917567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534572072	chr21:39917570-39917571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117015294	chr21:39917607-39917608	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs149363809	chr21:39917670-39917671	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs542450326	chr21:39917676-39917677	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs182108294	chr21:39917718-39917719	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs557515824	chr21:39917730-39917731	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs28536009	chr21:39917735-39917736	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs186662518	chr21:39917762-39917763	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs575670055	chr21:39917768-39917769	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs553654282	chr21:39917781-39917782	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs75212529	chr21:39917791-39917792	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs542196960	chr21:39917822-39917823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562087780	chr21:39917827-39917828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531009312	chr21:39917836-39917837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543284405	chr21:39917837-39917838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554433399	chr21:39917870-39917871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563156166	chr21:39917926-39917927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2836504	chr21:39917948-39917949	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs192328246	chr21:39917972-39917973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143658820	chr21:39918009-39918010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185710190	chr21:39918013-39918014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370388227	chr21:39918078-39918079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188635511	chr21:39918141-39918142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148076733	chr21:39918179-39918180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141901174	chr21:39918198-39918199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376509071	chr21:39918245-39918246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571058698	chr21:39918260-39918261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192954186	chr21:39918272-39918273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146083769	chr21:39918273-39918274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139934706	chr21:39918280-39918281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545471311	chr21:39918283-39918284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563801769	chr21:39918313-39918314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575708567	chr21:39918341-39918342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575513779	chr21:39918357-39918358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377362995	chr21:39918390-39918391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544713438	chr21:39918391-39918392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543086813	chr21:39918416-39918417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Breast cancer	21364760	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
Acute myeloid leukemia	17237825	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
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
Prostate cancer	20562851	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39911200-39935200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr21:39913000-39917600	Weak transcription	Aorta	Aorta
3	chr21:39915800-39918200	Enhancers	Fetal Stomach	stomach
4	chr21:39916600-39917600	Enhancers	HepG2	liver
5	chr21:39917600-39917800	Bivalent Enhancer	Fetal Lung	lung
6	chr21:39917600-39918000	Enhancers	Aorta	Aorta
7	chr21:39918000-39918800	Weak transcription	Aorta	Aorta
8	chr21:39918800-39919200	Strong transcription	Aorta	Aorta
9	chr21:39919200-39928400	Weak transcription	Aorta	Aorta
10	chr21:39921800-39922200	Enhancers	Gastric	stomach
11	chr21:39922000-39922200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr21:39928400-39929000	Enhancers	Aorta	Aorta
13	chr21:39929000-39929600	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr21:39929000-39946800	Weak transcription	Aorta	Aorta
15	chr21:39930000-39930600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr21:39932000-39932400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr21:39932000-39932400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr21:39932200-39932400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr21:39932200-39932400	Enhancers	Fetal Muscle Trunk	muscle
20	chr21:39932200-39932400	ZNF genes & repeats	Lung	lung
21	chr21:39932200-39932800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr21:39932200-39940600	Weak transcription	Gastric	stomach
23	chr21:39932400-39932600	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr21:39932400-39938800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr21:39932800-39933800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr21:39932800-39935200	Enhancers	HepG2	liver
27	chr21:39933800-39934600	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr21:39934200-39934800	Enhancers	Fetal Muscle Leg	muscle
29	chr21:39934400-39934600	Enhancers	Fetal Muscle Trunk	muscle
30	chr21:39934600-39939000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr21:39935200-39937800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr21:39937400-39938800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr21:39937800-39939000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr21:39938600-39939000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr21:39938600-39940000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr21:39938600-39940000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr21:39938600-39940000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr21:39938800-39939000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr21:39938800-39939000	Bivalent Enhancer	Brain Hippocampus Middle	brain
40	chr21:39938800-39939200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr21:39938800-39939200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr21:39938800-39939200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr21:39938800-39939400	Enhancers	Fetal Muscle Leg	muscle
44	chr21:39938800-39939600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr21:39938800-39939600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr21:39938800-39939600	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr21:39938800-39939600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr21:39938800-39940000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
49	chr21:39938800-39940200	Bivalent/Poised TSS	NHDF-Ad	bronchial
50	chr21:39939000-39939200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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