Variant report

Variant	nsv527611
Chromosome Location	chr21:16382148-16399980
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:16383232..16385485-chr21:16435985..16437706,2	MCF-7	breast:
2	chr21:16381268..16384536-chr21:16390453..16394487,3	MCF-7	breast:
3	chr21:16391286..16392945-chr21:16436833..16439609,2	MCF-7	breast:
4	chr21:16395914..16397790-chr21:16432209..16434496,2	MCF-7	breast:
5	chr21:16376288..16378441-chr21:16386178..16387873,2	MCF-7	breast:
6	chr21:16389368..16391133-chr21:16479000..16481220,2	K562	blood:
7	chr21:16377426..16379495-chr21:16381579..16384387,2	MCF-7	breast:
8	chr21:16384405..16386106-chr21:16392542..16394997,2	K562	blood:
9	chr21:16390155..16392486-chr21:16399376..16401448,2	MCF-7	breast:
10	chr21:16384405..16386106-chr21:16392542..16394997,2	K562	blood:
11	chr21:16394934..16397671-chr21:16408444..16410714,3	MCF-7	breast:
12	chr21:16397947..16400507-chr21:16406341..16409146,2	MCF-7	breast:
13	chr21:16395351..16397728-chr21:16427292..16429201,2	MCF-7	breast:
14	chr21:16381268..16384536-chr21:16390453..16394487,3	MCF-7	breast:
15	chr21:16397267..16399986-chr21:16410765..16412488,2	K562	blood:
16	chr21:16390155..16392486-chr21:16399376..16401448,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236471	chromatin interactions
ENSG00000180530	chromatin interactions

Extended variants
information (count: 642 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:642 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1018353	chr21:16382148-16382149	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561118391	chr21:16382180-16382181	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77651038	chr21:16382232-16382233	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192767483	chr21:16382253-16382254	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372272170	chr21:16382316-16382317	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114101411	chr21:16382383-16382384	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532537146	chr21:16382385-16382386	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144845680	chr21:16382414-16382415	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540795054	chr21:16382437-16382438	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183514432	chr21:16382455-16382456	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376405009	chr21:16382456-16382457	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548214402	chr21:16382459-16382460	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112765792	chr21:16382503-16382504	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs60109042	chr21:16382539-16382540	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs537158638	chr21:16382554-16382555	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550369613	chr21:16382571-16382572	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554670810	chr21:16382610-16382611	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148583931	chr21:16382641-16382642	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188638037	chr21:16382733-16382734	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553189606	chr21:16382742-16382743	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73172388	chr21:16382751-16382752	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs181046357	chr21:16382792-16382793	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112120692	chr21:16382815-16382816	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574704419	chr21:16382826-16382827	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543915456	chr21:16382829-16382830	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563526031	chr21:16382847-16382848	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368232936	chr21:16382951-16382952	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13050746	chr21:16383017-16383018	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs116214415	chr21:16383030-16383031	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559516641	chr21:16383039-16383040	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369324340	chr21:16383095-16383096	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528762250	chr21:16383203-16383204	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548557963	chr21:16383204-16383205	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141098636	chr21:16383227-16383228	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546009599	chr21:16383254-16383255	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs184371025	chr21:16383257-16383258	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs561738787	chr21:16383279-16383280	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs201378878	chr21:16383411-16383412	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs530397094	chr21:16383493-16383494	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs550529681	chr21:16383538-16383539	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs113424541	chr21:16383549-16383550	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs555900788	chr21:16383565-16383566	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs539532514	chr21:16383572-16383573	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs546864679	chr21:16383573-16383574	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs62220718	chr21:16383608-16383609	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs181717198	chr21:16383611-16383612	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs187593113	chr21:16383612-16383613	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs575471282	chr21:16383635-16383636	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs529993592	chr21:16383655-16383656	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs549810910	chr21:16383656-16383657	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 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
Sudden cardiac death	19188705	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
Breast cancer	20409316	CNVD
Autism	18414403	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

Chromatin state (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16341200-16388600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr21:16360400-16402600	Weak transcription	Placenta	Placenta
3	chr21:16362200-16385800	Weak transcription	K562	blood
4	chr21:16363400-16383000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr21:16364800-16423000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr21:16368600-16414600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr21:16370200-16383600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr21:16374200-16383400	Genic enhancers	HSMM	muscle
9	chr21:16374800-16394600	Weak transcription	GM12878-XiMat	blood
10	chr21:16374800-16423200	Weak transcription	Colonic Mucosa	Colon
11	chr21:16375800-16387000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr21:16376200-16383000	Weak transcription	Pancreas	Pancrea
13	chr21:16376200-16392200	Weak transcription	Lung	lung
14	chr21:16376200-16401600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr21:16376600-16401800	Weak transcription	Fetal Muscle Leg	muscle
16	chr21:16377000-16382600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr21:16378000-16383200	Weak transcription	Fetal Brain Male	brain
18	chr21:16378000-16383400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr21:16378000-16387400	Weak transcription	HMEC	breast
20	chr21:16378000-16387400	Weak transcription	NHEK	skin
21	chr21:16378000-16388600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr21:16378200-16382400	Weak transcription	Fetal Brain Female	brain
23	chr21:16378200-16382800	Weak transcription	Fetal Stomach	stomach
24	chr21:16378200-16383200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr21:16378200-16383400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr21:16378200-16387400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr21:16378200-16390600	Weak transcription	Brain Substantia Nigra	brain
28	chr21:16378400-16400600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr21:16378600-16383400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr21:16378600-16398200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr21:16378800-16388800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr21:16378800-16390600	Weak transcription	Colon Smooth Muscle	Colon
33	chr21:16378800-16406000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr21:16379000-16400400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr21:16379200-16383800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr21:16379400-16382800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr21:16379400-16386800	Weak transcription	Brain Angular Gyrus	brain
38	chr21:16379400-16386800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr21:16379400-16390800	Weak transcription	Brain Anterior Caudate	brain
40	chr21:16379400-16400800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr21:16379400-16401200	Weak transcription	Small Intestine	intestine
42	chr21:16379600-16382200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr21:16379600-16383000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr21:16379600-16384000	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr21:16379600-16384000	Weak transcription	Aorta	Aorta
46	chr21:16379600-16384600	Weak transcription	Brain Hippocampus Middle	brain
47	chr21:16379600-16388200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr21:16379600-16388400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr21:16379600-16388400	Weak transcription	HUVEC	blood vessel
50	chr21:16379600-16393200	Weak transcription	Thymus	Thymus

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