Variant report

Variant	nsv913967
Chromosome Location	chr21:46249752-46279505
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:124)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:124 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr21:46265614..46266477-chr21:46331218..46332210,2	MCF-7	breast:
2	chr21:46220066..46223506-chr21:46264882..46267873,4	MCF-7	breast:
3	chr21:46274377..46276734-chr21:46492349..46494888,2	K562	blood:
4	chr21:46236941..46239715-chr21:46273416..46275344,2	MCF-7	breast:
5	chr21:46263369..46266030-chr21:46361753..46363305,2	MCF-7	breast:
6	chr21:46267198..46269183-chr21:46277821..46280408,2	K562	blood:
7	chr21:46249596..46252365-chr21:46286693..46288889,2	K562	blood:
8	chr21:46251390..46253275-chr21:46253661..46255396,2	MCF-7	breast:
9	chr21:46249127..46251241-chr21:46258421..46260126,2	K562	blood:
10	chr21:46235456..46240061-chr21:46274213..46277506,6	K562	blood:
11	chr21:46257986..46260009-chr21:46368345..46370493,2	MCF-7	breast:
12	chr21:46274905..46276457-chr21:46283894..46285475,2	K562	blood:
13	chr21:46274218..46276249-chr21:46318911..46322162,3	K562	blood:
14	chr21:46221046..46221667-chr21:46265594..46266366,4	MCF-7	breast:
15	chr21:46264572..46266878-chr21:46303088..46304857,2	K562	blood:
16	chr21:46221083..46222067-chr21:46265530..46266149,2	MCF-7	breast:
17	chr21:46266013..46268902-chr21:46273662..46275301,2	MCF-7	breast:
18	chr21:46235456..46237470-chr21:46274330..46277506,4	K562	blood:
19	chr21:46231737..46233290-chr21:46275941..46278575,2	K562	blood:
20	chr21:46219335..46222066-chr21:46273401..46276470,3	K562	blood:
21	chr21:46254339..46258988-chr21:46290950..46295113,5	MCF-7	breast:
22	chr21:46275572..46279404-chr21:46280486..46283691,4	MCF-7	breast:
23	chr21:46236115..46238070-chr21:46276155..46279056,5	MCF-7	breast:
24	chr21:46248817..46250532-chr21:46493872..46495816,2	K562	blood:
25	chr21:46240414..46242423-chr21:46276915..46278463,2	MCF-7	breast:
26	chr21:46248831..46250391-chr21:46259257..46261068,2	K562	blood:
27	chr21:46238188..46240407-chr21:46273187..46276498,3	K562	blood:
28	chr21:46258726..46260888-chr21:46358730..46361569,2	MCF-7	breast:
29	chr21:46218586..46220158-chr21:46274953..46276818,2	K562	blood:
30	chr21:46247392..46250185-chr21:46286804..46289409,3	MCF-7	breast:
31	chr21:46220501..46225374-chr21:46254982..46260084,8	K562	blood:
32	chr21:46272154..46279111-chr21:46289852..46295619,12	K562	blood:
33	chr21:46256501..46259929-chr21:46346281..46348601,3	MCF-7	breast:
34	chr21:46265002..46266574-chr21:46269754..46272322,2	MCF-7	breast:
35	chr17:56708400..56710403-chr21:46274610..46277048,2	MCF-7	breast:
36	chr21:46220969..46223089-chr21:46268593..46270821,2	K562	blood:
37	chr21:46273548..46279979-chr21:46290137..46294261,8	K562	blood:
38	chr21:46244628..46247469-chr21:46269469..46271474,2	MCF-7	breast:
39	chr21:46264845..46266495-chr21:46291044..46293226,2	MCF-7	breast:
40	chr21:46264887..46267295-chr21:46268362..46270043,2	K562	blood:
41	chr21:46256405..46259532-chr21:46270974..46273137,3	K562	blood:
42	chr21:46220004..46222694-chr21:46265684..46268092,3	K562	blood:
43	chr21:46235858..46241119-chr21:46254955..46260994,15	MCF-7	breast:
44	chr21:46265637..46266395-chr21:46369378..46370023,2	MCF-7	breast:
45	chr21:46247527..46250917-chr21:46254935..46257168,7	K562	blood:
46	chr21:46248831..46250391-chr21:46259257..46261068,2	K562	blood:
47	chr21:46272684..46279612-chr21:46286573..46290125,9	K562	blood:
48	chr21:46263030..46264697-chr21:46282813..46284320,2	MCF-7	breast:
49	chr21:46253846..46255702-chr21:46270188..46272414,2	MCF-7	breast:
50	chr21:46266013..46268902-chr21:46273662..46275301,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM207A-8	chr21:46269504-46270003	NONHSAT082883

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PTTG1IP	hsa-miR-124-3p	chr21:46269557-46269550
2	PTTG1IP	hsa-miR-124-3p	chr21:46269551-46269570

Variant related genes	Relation type
ENSG00000183255	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000160256	chromatin interactions
ENSG00000197381	chromatin interactions
ENSG00000183250	chromatin interactions
ENSG00000160255	chromatin interactions
ENSG00000268856	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000184787	chromatin interactions
ENSG00000184900	chromatin interactions
ENSG00000236519	chromatin interactions
ENSG00000235374	chromatin interactions

Extended variants
information (count: 1584 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1584 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs235343	chr21:46249752-46249753	Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570931214	chr21:46249756-46249757	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs116467249	chr21:46249797-46249798	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs181980573	chr21:46249959-46249960	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs531045580	chr21:46249965-46249966	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs531069205	chr21:46249968-46249969	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs8133972	chr21:46249983-46249984	Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs76249670	chr21:46250113-46250114	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs528534110	chr21:46250114-46250115	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs34343086	chr21:46250120-46250121	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs546973233	chr21:46250126-46250127	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs76529084	chr21:46250138-46250139	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs532527934	chr21:46250155-46250156	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs144502779	chr21:46250240-46250241	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs186155055	chr21:46250243-46250244	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs537264668	chr21:46250287-46250288	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs190192	chr21:46250289-46250290	Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs567366584	chr21:46250338-46250339	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs191099419	chr21:46250339-46250340	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs189286	chr21:46250344-46250345	Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs577608548	chr21:46250361-46250362	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs538232891	chr21:46250381-46250382	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs370457156	chr21:46250405-46250406	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs557262619	chr21:46250412-46250413	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs575497227	chr21:46250446-46250447	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs542819643	chr21:46250449-46250450	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs574088348	chr21:46250457-46250458	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs180724071	chr21:46250465-46250466	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs571625266	chr21:46250522-46250523	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs573379329	chr21:46250527-46250528	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs540412433	chr21:46250533-46250534	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs565364568	chr21:46250539-46250540	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs532578232	chr21:46250551-46250552	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs28815785	chr21:46250611-46250612	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs34641268	chr21:46250647-46250648	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs397731812	chr21:46250649-46250650	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs34944243	chr21:46250667-46250668	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs141750387	chr21:46250820-46250821	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs150588965	chr21:46250821-46250822	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs549203128	chr21:46250853-46250854	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs78111364	chr21:46250886-46250887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78459988	chr21:46250914-46250915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111666102	chr21:46250980-46250981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571300887	chr21:46251008-46251009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553842832	chr21:46251023-46251024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545705668	chr21:46251038-46251039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538271469	chr21:46251045-46251046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553477577	chr21:46251052-46251053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556497149	chr21:46251135-46251136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575533842	chr21:46251172-46251173	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
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 lymphoblastic leukemia	20435627	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
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	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
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Lymphoma	21487021	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1129 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46249000-46250400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr21:46249400-46250000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr21:46250000-46251400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr21:46250200-46253200	Enhancers	Primary hematopoietic stem cells	blood
5	chr21:46250600-46251400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr21:46250600-46252000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr21:46251000-46251600	Enhancers	Primary T cells from cord blood	blood
8	chr21:46251000-46251600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr21:46251000-46251600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr21:46251000-46251600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr21:46251000-46251800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr21:46251000-46252000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr21:46251000-46252200	Enhancers	Primary B cells from peripheral blood	blood
14	chr21:46251200-46251600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr21:46251200-46251600	Enhancers	Fetal Thymus	thymus
16	chr21:46251200-46251600	Enhancers	Thymus	Thymus
17	chr21:46251200-46251600	Enhancers	K562	blood
18	chr21:46251400-46251600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr21:46251400-46252200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr21:46251400-46252400	Enhancers	Primary B cells from cord blood	blood
21	chr21:46251600-46251800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr21:46251600-46252000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr21:46251600-46254800	Weak transcription	K562	blood
24	chr21:46251600-46256400	Weak transcription	Fetal Thymus	thymus
25	chr21:46251800-46252000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr21:46252000-46253200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr21:46252000-46256400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr21:46252200-46253200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr21:46253200-46254200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr21:46253200-46256600	Weak transcription	Right Atrium	heart
31	chr21:46253400-46256800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr21:46254000-46255400	Enhancers	Spleen	Spleen
33	chr21:46254000-46256400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr21:46254200-46254400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr21:46254200-46254400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr21:46254200-46254600	Enhancers	Pancreas	Pancrea
37	chr21:46254400-46255400	Enhancers	Gastric	stomach
38	chr21:46254400-46255800	Enhancers	Stomach Mucosa	stomach
39	chr21:46254400-46256600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr21:46254600-46256400	Weak transcription	Pancreas	Pancrea
41	chr21:46254800-46256400	Enhancers	K562	blood
42	chr21:46255000-46255800	Bivalent Enhancer	HepG2	liver
43	chr21:46255000-46256600	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr21:46255200-46255400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr21:46255200-46255400	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr21:46255200-46255800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
47	chr21:46255200-46257200	Enhancers	Right Ventricle	heart
48	chr21:46255200-46257600	Enhancers	Duodenum Mucosa	Duodenum
49	chr21:46255400-46255600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
50	chr21:46255400-46256400	Weak transcription	Gastric	stomach

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