Variant report

Variant	nsv834053
Chromosome Location	chr21:18369514-18500929
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:8)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:18457208..18458728-chr21:18460355..18463294,2	K562	blood:
2	chr21:18417207..18417875-chr21:18518633..18519255,2	MCF-7	breast:
3	chr21:18490806..18491416-chr21:18500441..18501206,2	MCF-7	breast:
4	chr21:18422543..18424545-chr21:18477061..18478975,2	MCF-7	breast:
5	chr21:18422543..18424545-chr21:18477061..18478975,2	MCF-7	breast:
6	chr21:18490806..18491416-chr21:18500441..18501206,2	MCF-7	breast:
7	chr21:18457208..18458728-chr21:18460355..18463294,2	K562	blood:
8	chr21:18314784..18315706-chr21:18417520..18418311,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BTG3-2	chr21:18386480-18386536	NONHSAT081269
2	lnc-BTG3-2	chr21:18382324-18382639	XLOC_014010
3	lnc-BTG3-2	chr21:18382323-18382639	NONHSAT081269
4	lnc-BTG3-2	chr21:18386481-18386536	XLOC_014010

No data

Variant related genes	Relation type
PGAM4	miRNA target sites
ARID1B	miRNA target sites

Extended variants
information (count: 3086 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:3086 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577033638	chr21:18370029-18370030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539758119	chr21:18370030-18370031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540979493	chr21:18370038-18370039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553161138	chr21:18370048-18370049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117104213	chr21:18370058-18370059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541940064	chr21:18370071-18370072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561670022	chr21:18370102-18370103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376268830	chr21:18370131-18370132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs71317689	chr21:18370144-18370145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552981686	chr21:18370154-18370155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184856797	chr21:18370180-18370181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572858297	chr21:18370205-18370206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs57511918	chr21:18370218-18370219	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs11088606	chr21:18370357-18370358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552462495	chr21:18370369-18370370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73193498	chr21:18370412-18370413	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs188687986	chr21:18370433-18370434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180767681	chr21:18370443-18370444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9979378	chr21:18370485-18370486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs369123231	chr21:18370488-18370489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11702071	chr21:18370513-18370514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs76469533	chr21:18370519-18370520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62224064	chr21:18370535-18370536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190760858	chr21:18370543-18370544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539695381	chr21:18370599-18370600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553349009	chr21:18370618-18370619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs36087381	chr21:18370630-18370631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs397944117	chr21:18370638-18370639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2205428	chr21:18370713-18370714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182428937	chr21:18370768-18370769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11701551	chr21:18370801-18370802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs148543936	chr21:18370910-18370911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372443724	chr21:18370913-18370914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371469665	chr21:18370924-18370925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200732366	chr21:18370995-18370996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186545453	chr21:18370999-18371000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557429541	chr21:18371001-18371002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2824164	chr21:18371006-18371007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs570614258	chr21:18371091-18371092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546086108	chr21:18371103-18371104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559660894	chr21:18371127-18371128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375575785	chr21:18371179-18371180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191824603	chr21:18371182-18371183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539216220	chr21:18371228-18371229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562321771	chr21:18371273-18371274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144762614	chr21:18371292-18371293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530867932	chr21:18371298-18371299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183597670	chr21:18371302-18371303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188196206	chr21:18371309-18371310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62224065	chr21:18371319-18371320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
abnormal development	18461090	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
Breast cancer	22522925	CNVD
Acute myeloid leukemia	19651600	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:348 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:18370000-18370200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr21:18370200-18375600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr21:18371400-18375400	Weak transcription	Ovary	ovary
4	chr21:18372000-18372600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr21:18372200-18372800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr21:18372400-18372600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr21:18372400-18375200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr21:18372600-18372800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr21:18372600-18374000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr21:18372600-18374600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr21:18372800-18374200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr21:18372800-18374200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr21:18373000-18377000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr21:18373200-18373400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr21:18373200-18374200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr21:18373200-18376600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr21:18373400-18374200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr21:18374000-18375000	Enhancers	Dnd41	blood
19	chr21:18374000-18376600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr21:18374000-18376800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr21:18374200-18374400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr21:18374200-18374800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr21:18374200-18376000	Enhancers	HSMMtube	muscle
24	chr21:18374200-18376200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr21:18374200-18376200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr21:18374200-18376200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr21:18374200-18376400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr21:18374400-18374800	Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr21:18374600-18375800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr21:18374800-18375000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr21:18374800-18375200	Enhancers	NH-A	brain
32	chr21:18374800-18375400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr21:18374800-18375400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr21:18374800-18375400	Enhancers	Osteobl	bone
35	chr21:18374800-18376000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr21:18374800-18376000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr21:18374800-18376000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr21:18374800-18376200	Enhancers	HSMM	muscle
39	chr21:18375000-18375200	Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr21:18375000-18376000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr21:18375000-18376000	Enhancers	NHDF-Ad	bronchial
42	chr21:18375000-18376200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr21:18375000-18376400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr21:18375000-18376400	Enhancers	Fetal Lung	lung
45	chr21:18375000-18376800	Flanking Active TSS	Dnd41	blood
46	chr21:18375200-18375400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr21:18375200-18375400	Enhancers	Rectal Smooth Muscle	rectum
48	chr21:18375200-18375600	Enhancers	Fetal Thymus	thymus
49	chr21:18375200-18375600	Enhancers	A549	lung
50	chr21:18375200-18375800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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