Variant report

Variant	nsv3460
Chromosome Location	chr21:16741994-16760719
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:16577448..16580419-chr21:16741231..16743015,2	MCF-7	breast:
2	chr21:16714501..16715255-chr21:16742984..16743509,2	MCF-7	breast:
3	chr21:16742966..16743867-chr21:16816332..16816950,2	MCF-7	breast:
4	chr21:16737684..16740114-chr21:16747406..16749944,2	K562	blood:
5	chr21:16732191..16734558-chr21:16742882..16744836,2	MCF-7	breast:
6	chr21:16743337..16743867-chr21:16816332..16817195,2	MCF-7	breast:
7	chr21:16437416..16439848-chr21:16743121..16745374,3	MCF-7	breast:
8	chr21:16742888..16745845-chr21:16814324..16816904,2	MCF-7	breast:
9	chr21:16570410..16572952-chr21:16744868..16746614,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236471	chromatin interactions

Extended variants
information (count: 742 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:742 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185050649	chr21:16742063-16742064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116204088	chr21:16742071-16742072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542937856	chr21:16742125-16742126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138303329	chr21:16742219-16742220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576545397	chr21:16742261-16742262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370544676	chr21:16742284-16742285	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572118933	chr21:16742320-16742321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545626429	chr21:16742327-16742328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564830024	chr21:16742388-16742389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527385694	chr21:16742394-16742395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7279326	chr21:16742442-16742443	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs560881204	chr21:16742447-16742448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529986346	chr21:16742621-16742622	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550075532	chr21:16742665-16742666	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540378334	chr21:16742692-16742693	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73892484	chr21:16742701-16742702	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs568192718	chr21:16742702-16742703	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532198594	chr21:16742728-16742729	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371327514	chr21:16742766-16742767	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189381035	chr21:16742792-16742793	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141275738	chr21:16742818-16742819	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs80249321	chr21:16742829-16742830	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201546640	chr21:16742841-16742842	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571602899	chr21:16742874-16742875	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115235196	chr21:16742875-16742876	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181073845	chr21:16742876-16742877	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185922805	chr21:16742890-16742891	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149618162	chr21:16742903-16742904	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556430519	chr21:16742924-16742925	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367770497	chr21:16742949-16742950	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs17275065	chr21:16742975-16742976	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191467649	chr21:16742983-16742984	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73346504	chr21:16742993-16742994	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs559116943	chr21:16743010-16743011	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572013401	chr21:16743025-16743026	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541147369	chr21:16743066-16743067	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568192758	chr21:16743100-16743101	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529695042	chr21:16743104-16743105	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147291082	chr21:16743142-16743143	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs563431771	chr21:16743177-16743178	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs35541448	chr21:16743245-16743246	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs398036087	chr21:16743246-16743247	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs375875911	chr21:16743269-16743270	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs532438086	chr21:16743292-16743293	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs181112734	chr21:16743312-16743313	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs187068107	chr21:16743315-16743316	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs138048981	chr21:16743330-16743331	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs17275072	chr21:16743349-16743350	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs567462027	chr21:16743378-16743379	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs200409319	chr21:16743390-16743391	Enhancers Weak transcription Strong 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	22522925	CNVD
Breast cancer	20409316	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16738600-16747600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr21:16740000-16742600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr21:16740600-16742800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr21:16740800-16743400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr21:16742600-16743400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr21:16742600-16743600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr21:16742800-16743200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr21:16742800-16743400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr21:16742800-16745000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr21:16743400-16745200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr21:16743600-16752000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr21:16745000-16746800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr21:16745200-16745400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr21:16745200-16745800	Enhancers	Dnd41	blood
15	chr21:16745400-16745600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr21:16745600-16745800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr21:16745800-16747400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr21:16746200-16746600	Enhancers	Fetal Kidney	kidney
19	chr21:16746800-16747400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr21:16747000-16747600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr21:16747400-16747600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr21:16747400-16748800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr21:16747600-16748600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr21:16747600-16748600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr21:16747600-16748800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr21:16748600-16750600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr21:16748600-16751600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr21:16748600-16753400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr21:16748800-16752200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr21:16748800-16753200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr21:16751400-16752400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr21:16751600-16753000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr21:16752000-16752800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr21:16752000-16753200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr21:16752200-16752800	Strong transcription	Primary hematopoietic stem cells	blood
36	chr21:16752800-16753000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr21:16753000-16753800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr21:16753000-16753800	Enhancers	Esophagus	oesophagus
39	chr21:16753000-16758600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr21:16753200-16753800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr21:16753400-16753800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr21:16753400-16753800	Enhancers	Gastric	stomach
43	chr21:16753800-16755600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr21:16753800-16758000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr21:16753800-16759200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr21:16755600-16757000	Strong transcription	Primary hematopoietic stem cells	blood
47	chr21:16755800-16756200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr21:16757000-16758800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr21:16758000-16759800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr21:16758600-16759400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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