Variant report

Variant	nsv913413
Chromosome Location	chr21:16537728-16621859
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:211)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:211 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr21:16559200..16562028-chr21:16613543..16615271,2	MCF-7	breast:
2	chr21:16582323..16583272-chr21:16816273..16817233,8	MCF-7	breast:
3	chr21:16571818..16572996-chr21:16582415..16583526,5	MCF-7	breast:
4	chr21:16584909..16587844-chr21:16591132..16593725,3	K562	blood:
5	chr21:16568438..16570001-chr21:16571756..16574334,2	MCF-7	breast:
6	chr21:16545079..16546143-chr21:16581995..16583288,32	MCF-7	breast:
7	chr21:16377732..16380502-chr21:16580282..16582809,3	MCF-7	breast:
8	chr21:16545419..16546002-chr21:16714667..16715382,2	MCF-7	breast:
9	chr21:16577448..16580419-chr21:16741231..16743015,2	MCF-7	breast:
10	chr21:16582189..16583291-chr21:16958890..16959931,32	MCF-7	breast:
11	chr21:16545227..16545859-chr21:16572042..16572900,4	MCF-7	breast:
12	chr21:16610914..16614586-chr21:16614591..16617971,5	K562	blood:
13	chr21:16543825..16546494-chr21:16577749..16579512,2	MCF-7	breast:
14	chr21:16570410..16572952-chr21:16744868..16746614,2	MCF-7	breast:
15	chr21:16570442..16572661-chr21:16665803..16668621,2	MCF-7	breast:
16	chr21:16614350..16617291-chr21:16618922..16620794,2	K562	blood:
17	chr21:16507551..16509625-chr21:16582039..16584912,2	MCF-7	breast:
18	chr21:16234850..16238981-chr21:16579060..16583340,5	MCF-7	breast:
19	chr21:16537078..16539945-chr21:16540563..16542447,2	MCF-7	breast:
20	chr21:16545028..16546143-chr21:16581995..16583350,24	MCF-7	breast:
21	chr21:16549985..16551510-chr21:16570529..16573382,2	MCF-7	breast:
22	chr21:16586904..16589804-chr21:16590773..16592275,2	K562	blood:
23	chr21:16614264..16614942-chr21:16855573..16856106,2	MCF-7	breast:
24	chr21:16545692..16547442-chr21:16556635..16559222,2	MCF-7	breast:
25	chr21:16582092..16583222-chr21:16714611..16715771,13	MCF-7	breast:
26	chr21:16545130..16546031-chr21:16816305..16817187,2	MCF-7	breast:
27	chr21:16375433..16376422-chr21:16582096..16583242,10	MCF-7	breast:
28	chr21:16592572..16594145-chr21:16598966..16600657,2	MCF-7	breast:
29	chr21:16545273..16546244-chr21:16571963..16572719,3	MCF-7	breast:
30	chr21:16377360..16378259-chr21:16579926..16580621,2	MCF-7	breast:
31	chr21:16545692..16547442-chr21:16556635..16559222,2	MCF-7	breast:
32	chr21:16434158..16440207-chr21:16535498..16546791,27	MCF-7	breast:
33	chr21:16582273..16583140-chr21:16628406..16628952,2	MCF-7	breast:
34	chr21:16377411..16378027-chr21:16572053..16572593,2	MCF-7	breast:
35	chr21:16559200..16562028-chr21:16613543..16615271,2	MCF-7	breast:
36	chr21:16582221..16583302-chr21:16958882..16959791,8	MCF-7	breast:
37	chr21:16504838..16505677-chr21:16545069..16545649,2	MCF-7	breast:
38	chr21:16614000..16614891-chr21:16959269..16959857,2	MCF-7	breast:
39	chr21:16571993..16572516-chr21:16816311..16817165,2	MCF-7	breast:
40	chr21:16538318..16540321-chr21:16546089..16547766,2	MCF-7	breast:
41	chr21:16235013..16237732-chr21:16570965..16574658,5	MCF-7	breast:
42	chr21:15678271..15679097-chr21:16582211..16583261,3	MCF-7	breast:
43	chr21:16492732..16495693-chr21:16564937..16568393,3	MCF-7	breast:
44	chr21:16580067..16580933-chr21:16958897..16959756,2	MCF-7	breast:
45	chr21:16249809..16250331-chr21:16582564..16583189,2	MCF-7	breast:
46	chr21:16573205..16576058-chr21:16615561..16617551,2	MCF-7	breast:
47	chr21:16578858..16581806-chr21:16778065..16780066,2	MCF-7	breast:
48	chr21:16377430..16378305-chr21:16571594..16572768,4	MCF-7	breast:
49	chr21:16545227..16545859-chr21:16572042..16572900,4	MCF-7	breast:
50	chr21:16545419..16546006-chr21:16714667..16715382,3	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NRIP1-5	chr21:16582725-16583011	NONHSAT081196
2	lnc-NRIP1-5	chr21:16588147-16588197	NONHSAT081196

No data

Variant related genes	Relation type
ENSG00000180530	chromatin interactions
ENSG00000136813	chromatin interactions
ENSG00000235609	chromatin interactions
ENSG00000236471	chromatin interactions

Extended variants
information (count: 3489 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:3489 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2823109	chr21:16537728-16537729	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185633955	chr21:16537732-16537733	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs373122266	chr21:16537742-16537743	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs79073905	chr21:16537746-16537747	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs566399648	chr21:16537747-16537748	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs376897598	chr21:16537792-16537793	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs535317364	chr21:16537813-16537814	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs554643211	chr21:16537824-16537825	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs189126280	chr21:16537826-16537827	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs543551146	chr21:16537830-16537831	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs556784251	chr21:16537847-16537848	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs148588286	chr21:16537856-16537857	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs545694325	chr21:16537878-16537879	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs181535951	chr21:16537892-16537893	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs568836467	chr21:16537973-16537974	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs142960571	chr21:16537998-16537999	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs541705706	chr21:16538007-16538008	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs560984980	chr21:16538011-16538012	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs187413884	chr21:16538014-16538015	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs191830919	chr21:16538097-16538098	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs570058909	chr21:16538145-16538146	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs534036378	chr21:16538147-16538148	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs532612599	chr21:16538180-16538181	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs552527166	chr21:16538186-16538187	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs566264537	chr21:16538193-16538194	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs537744837	chr21:16538206-16538207	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs990302	chr21:16538239-16538240	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs184025102	chr21:16538259-16538260	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs571451237	chr21:16538276-16538277	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs377246484	chr21:16538280-16538281	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs147723368	chr21:16538290-16538291	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs556883103	chr21:16538352-16538353	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs576885848	chr21:16538391-16538392	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs142521073	chr21:16538399-16538400	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs552783313	chr21:16538416-16538417	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs377681025	chr21:16538462-16538463	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs73894919	chr21:16538484-16538485	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs556407664	chr21:16538554-16538555	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs541765406	chr21:16538557-16538558	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs78247416	chr21:16538575-16538576	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs530791290	chr21:16538589-16538590	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs370641537	chr21:16538610-16538611	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs543476079	chr21:16538666-16538667	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs375061923	chr21:16538695-16538696	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs563679705	chr21:16538710-16538711	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs532534735	chr21:16538831-16538832	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs185257168	chr21:16538835-16538836	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs569697545	chr21:16538836-16538837	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs534005295	chr21:16538862-16538863	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs554032076	chr21:16538968-16538969	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
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
T-cell lymphomas	19863542	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
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
Epilepsy	20502679	CNVD
22q11.2 microdeletion syndrome	19750312	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20409316	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:713 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16536600-16537800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:16536600-16538000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr21:16536600-16538400	Enhancers	HepG2	liver
4	chr21:16536800-16537800	Enhancers	Fetal Heart	heart
5	chr21:16536800-16537800	Enhancers	Hela-S3	cervix
6	chr21:16536800-16538000	Enhancers	HMEC	breast
7	chr21:16537200-16537800	Enhancers	Fetal Intestine Large	intestine
8	chr21:16537400-16538000	Enhancers	Fetal Intestine Small	intestine
9	chr21:16537400-16546000	Weak transcription	Pancreas	Pancrea
10	chr21:16537800-16542600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr21:16542600-16543600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr21:16542800-16543200	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr21:16542800-16543600	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr21:16542800-16543600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr21:16542800-16544000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr21:16542800-16544000	Enhancers	Primary T cells from cord blood	blood
17	chr21:16545000-16546200	Enhancers	HepG2	liver
18	chr21:16545400-16546000	Enhancers	Fetal Intestine Small	intestine
19	chr21:16545400-16546200	Enhancers	Fetal Intestine Large	intestine
20	chr21:16545600-16546600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr21:16546000-16546600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr21:16546000-16546600	Enhancers	Pancreas	Pancrea
23	chr21:16546200-16547200	Weak transcription	HepG2	liver
24	chr21:16546600-16548200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr21:16547200-16547800	Enhancers	HepG2	liver
26	chr21:16548200-16548400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr21:16548400-16548600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr21:16551200-16555200	Weak transcription	Fetal Heart	heart
29	chr21:16555200-16557200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr21:16555200-16557200	Enhancers	Fetal Heart	heart
31	chr21:16555400-16557400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr21:16555800-16557400	Enhancers	HMEC	breast
33	chr21:16555800-16557400	Enhancers	NHEK	skin
34	chr21:16556200-16556600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr21:16556200-16556600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr21:16556200-16557000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr21:16556600-16559800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr21:16556600-16568000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr21:16557200-16564200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr21:16559800-16560000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr21:16560200-16560600	Enhancers	Placenta	Placenta
42	chr21:16563000-16563200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr21:16563000-16563400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr21:16563200-16563600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr21:16563400-16564800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr21:16564200-16564800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr21:16564200-16564800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr21:16564200-16564800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr21:16564200-16564800	Enhancers	Fetal Intestine Large	intestine
50	chr21:16564200-16564800	Enhancers	Hela-S3	cervix

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