Variant report

Variant	nsv528246
Chromosome Location	chr21:16935888-16980039
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:40)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:16614000..16614891-chr21:16959269..16959857,2	MCF-7	breast:
2	chr21:16377414..16378299-chr21:16958983..16959853,8	MCF-7	breast:
3	chr21:16931419..16933182-chr21:16935241..16937836,2	MCF-7	breast:
4	chr21:16932624..16935111-chr21:16937107..16938655,2	K562	blood:
5	chr21:16940802..16942430-chr21:16945970..16948560,2	MCF-7	breast:
6	chr21:16938516..16940926-chr21:16955755..16957266,2	MCF-7	breast:
7	chr21:16628320..16628906-chr21:16959312..16959827,2	MCF-7	breast:
8	chr21:16545059..16545679-chr21:16959234..16959876,3	MCF-7	breast:
9	chr21:16579850..16580693-chr21:16958976..16959754,3	MCF-7	breast:
10	chr21:16714657..16715283-chr21:16959040..16959755,2	MCF-7	breast:
11	chr21:16907370..16908917-chr21:16935643..16937758,2	K562	blood:
12	chr21:16919633..16920412-chr21:16959232..16959914,4	MCF-7	breast:
13	chr21:16235383..16236247-chr21:16959008..16959755,5	MCF-7	breast:
14	chr21:16936242..16938072-chr21:16938632..16941243,2	MCF-7	breast:
15	chr21:16504814..16505341-chr21:16958945..16959492,2	MCF-7	breast:
16	chr21:16582221..16583302-chr21:16958882..16959791,8	MCF-7	breast:
17	chr21:16545107..16545912-chr21:16958930..16959648,3	MCF-7	breast:
18	chr21:16580067..16580933-chr21:16958897..16959756,2	MCF-7	breast:
19	chr21:16930194..16932868-chr21:16938815..16941325,2	K562	blood:
20	chr21:16375495..16376174-chr21:16958877..16959820,3	MCF-7	breast:
21	chr21:16377414..16378279-chr21:16958983..16959803,3	MCF-7	breast:
22	chr21:16582204..16583291-chr21:16958900..16960163,20	MCF-7	breast:
23	chr21:16919601..16920251-chr21:16958950..16959914,3	MCF-7	breast:
24	chr21:16582189..16583291-chr21:16958890..16959931,32	MCF-7	breast:
25	chr21:16940802..16942430-chr21:16945970..16948560,2	MCF-7	breast:
26	chr21:16816289..16817284-chr21:16958965..16959779,4	MCF-7	breast:
27	chr21:16545107..16545924-chr21:16958930..16959783,5	MCF-7	breast:
28	chr21:16628032..16628906-chr21:16958977..16959827,3	MCF-7	breast:
29	chr21:16936242..16938072-chr21:16938632..16941243,2	MCF-7	breast:
30	chr21:16571579..16572982-chr21:16958893..16959825,7	MCF-7	breast:
31	chr21:16436298..16438931-chr21:16935444..16937657,2	MCF-7	breast:
32	chr21:16377371..16378318-chr21:16958890..16959802,6	MCF-7	breast:
33	chr21:16964321..16967062-chr21:17101437..17103786,2	MCF-7	breast:
34	chr21:16816198..16817284-chr21:16958851..16959824,9	MCF-7	breast:
35	chr21:16959176..16959732-chr21:17011225..17011757,2	MCF-7	breast:
36	chr21:16714657..16715579-chr21:16959040..16959762,3	MCF-7	breast:
37	chr21:16919441..16920015-chr21:16959232..16959755,2	MCF-7	breast:
38	chr21:16938516..16940926-chr21:16955755..16957266,2	MCF-7	breast:
39	chr21:16580047..16580567-chr21:16959256..16959831,2	MCF-7	breast:
40	chr21:16504869..16505637-chr21:16958997..16959745,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NRIP1-7	chr21:16947589-16947729	NONHSAT081206
2	lnc-NRIP1-7	chr21:16943559-16943675	NONHSAT081206

No data

Variant related genes	Relation type
ENSG00000180530	chromatin interactions
ENSG00000155313	chromatin interactions

Extended variants
information (count: 909 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:909 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6517490	chr21:16935888-16935889	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs112198654	chr21:16935909-16935910	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs547497550	chr21:16935924-16935925	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs564229037	chr21:16935938-16935939	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs180863667	chr21:16935950-16935951	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs536291988	chr21:16935957-16935958	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs113783552	chr21:16935979-16935980	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs569927203	chr21:16936043-16936044	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs538951863	chr21:16936064-16936065	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs558759022	chr21:16936078-16936079	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs371914347	chr21:16936129-16936130	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs114068701	chr21:16936195-16936196	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs78564320	chr21:16936220-16936221	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs9980104	chr21:16936221-16936222	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs184185268	chr21:16936234-16936235	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs542563563	chr21:16936238-16936239	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs7279322	chr21:16936263-16936264	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs576292538	chr21:16936276-16936277	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs150528372	chr21:16936277-16936278	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs7282804	chr21:16936282-16936283	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs16986812	chr21:16936316-16936317	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs372679115	chr21:16936387-16936388	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs540766247	chr21:16936394-16936395	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs2242843	chr21:16936395-16936396	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs529762774	chr21:16936447-16936448	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs549771472	chr21:16936506-16936507	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs569692797	chr21:16936537-16936538	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs532428453	chr21:16936554-16936555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs139477903	chr21:16936601-16936602	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs188509093	chr21:16936611-16936612	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs2242844	chr21:16936629-16936630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs535347239	chr21:16936637-16936638	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs377414067	chr21:16936648-16936649	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs181645668	chr21:16936652-16936653	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs567708880	chr21:16936685-16936686	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs536361083	chr21:16936686-16936687	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs186848259	chr21:16936688-16936689	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs576056730	chr21:16936693-16936694	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs11702005	chr21:16936701-16936702	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs191485438	chr21:16936710-16936711	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs79323619	chr21:16936755-16936756	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs147441994	chr21:16936802-16936803	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs571083270	chr21:16936803-16936804	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs74677611	chr21:16936832-16936833	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs539625501	chr21:16936849-16936850	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs553186697	chr21:16936853-16936854	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs529787120	chr21:16936870-16936871	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs182572424	chr21:16936897-16936898	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs377651367	chr21:16936940-16936941	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs187182008	chr21:16936941-16936942	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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	20409316	CNVD
Autism	20841430	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16932600-16936600	Weak transcription	Fetal Intestine Large	intestine
2	chr21:16933000-16937200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr21:16933200-16936800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr21:16933200-16937200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr21:16933600-16937200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr21:16933800-16937200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr21:16934000-16937200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr21:16934400-16937200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr21:16935400-16936600	Weak transcription	Fetal Intestine Small	intestine
10	chr21:16936600-16937000	Enhancers	Placenta	Placenta
11	chr21:16936600-16937800	Enhancers	Fetal Intestine Large	intestine
12	chr21:16936600-16937800	Enhancers	Fetal Intestine Small	intestine
13	chr21:16936800-16937400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr21:16936800-16937400	Enhancers	Stomach Mucosa	stomach
15	chr21:16936800-16937600	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr21:16937200-16937600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr21:16937200-16937600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr21:16937200-16937600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr21:16937200-16937600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr21:16937200-16937800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr21:16937200-16937800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr21:16937200-16937800	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr21:16937200-16938000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr21:16937200-16939800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr21:16937800-16940200	Weak transcription	Fetal Intestine Large	intestine
26	chr21:16940200-16941400	Enhancers	Fetal Intestine Large	intestine
27	chr21:16944400-16944800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr21:16958200-16960800	Enhancers	Fetal Intestine Small	intestine
29	chr21:16958200-16961000	Enhancers	Fetal Intestine Large	intestine
30	chr21:16958800-16959400	Enhancers	Placenta Amnion	Placenta Amnion
31	chr21:16959000-16959800	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr21:16959400-16960000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr21:16959400-16960000	Enhancers	Placenta	Placenta
34	chr21:16960000-16961000	Weak transcription	Placenta	Placenta
35	chr21:16960600-16961400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr21:16961000-16961200	Enhancers	Placenta	Placenta
37	chr21:16961000-16963400	Weak transcription	Fetal Intestine Large	intestine
38	chr21:16961600-16961800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr21:16961600-16961800	Enhancers	Colon Smooth Muscle	Colon
40	chr21:16963400-16964600	Enhancers	Fetal Intestine Large	intestine
41	chr21:16963600-16964000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr21:16964800-16965600	Enhancers	A549	lung
43	chr21:16973200-16976200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr21:16975800-16977800	Enhancers	Fetal Heart	heart
45	chr21:16976200-16977000	Enhancers	H1 Cell Line	embryonic stem cell
46	chr21:16976200-16977000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr21:16976200-16977000	Enhancers	H9 Cell Line	embryonic stem cell
48	chr21:16976200-16977000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr21:16976200-16977200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr21:16976200-16977200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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