Variant report

Variant	nsv913411
Chromosome Location	chr21:16380025-16424421
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:50)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr21:16410559..16414183-chr21:16436121..16439359,3	MCF-7	breast:
2	chr21:16390155..16392486-chr21:16399376..16401448,2	MCF-7	breast:
3	chr21:16406540..16409317-chr21:16411969..16415649,3	MCF-7	breast:
4	chr21:16421628..16424109-chr21:16426147..16427828,2	K562	blood:
5	chr21:16381268..16384536-chr21:16390453..16394487,3	MCF-7	breast:
6	chr21:16413029..16416695-chr21:16417733..16422719,4	MCF-7	breast:
7	chr21:16376288..16378441-chr21:16386178..16387873,2	MCF-7	breast:
8	chr21:16422646..16426145-chr21:16428439..16434126,5	K562	blood:
9	chr21:16379403..16381413-chr21:16433127..16435083,2	MCF-7	breast:
10	chr21:16394934..16397671-chr21:16408444..16410714,3	MCF-7	breast:
11	chr21:16381268..16384536-chr21:16390453..16394487,3	MCF-7	breast:
12	chr21:16418230..16420135-chr21:16421562..16423323,2	K562	blood:
13	chr21:16395351..16397728-chr21:16427292..16429201,2	MCF-7	breast:
14	chr21:16328394..16330725-chr21:16408190..16411070,2	MCF-7	breast:
15	chr21:16397267..16399986-chr21:16410765..16412488,2	K562	blood:
16	chr21:16415623..16417157-chr21:16436047..16437880,2	MCF-7	breast:
17	chr21:16401518..16403961-chr21:16435811..16437558,2	MCF-7	breast:
18	chr21:16383232..16385485-chr21:16435985..16437706,2	MCF-7	breast:
19	chr21:16413029..16416695-chr21:16417733..16422719,4	MCF-7	breast:
20	chr21:16397947..16400507-chr21:16406341..16409146,2	MCF-7	breast:
21	chr21:16409943..16411760-chr21:16414362..16416923,2	MCF-7	breast:
22	chr21:16407642..16409317-chr21:16733549..16735698,2	MCF-7	breast:
23	chr21:16418230..16420135-chr21:16421562..16423323,2	K562	blood:
24	chr21:16423927..16426073-chr21:16428028..16429939,3	K562	blood:
25	chr21:16375307..16377965-chr21:16378343..16380044,2	K562	blood:
26	chr21:16377426..16379495-chr21:16381579..16384387,2	MCF-7	breast:
27	chr21:16401281..16403693-chr21:16405918..16408150,2	MCF-7	breast:
28	chr21:16402301..16404920-chr21:16410116..16411661,2	MCF-7	breast:
29	chr21:16402301..16404920-chr21:16410116..16411661,2	MCF-7	breast:
30	chr21:16250231..16252006-chr21:16422414..16424250,2	MCF-7	breast:
31	chr21:16405692..16408928-chr21:16436445..16439316,3	MCF-7	breast:
32	chr21:16409943..16411760-chr21:16414362..16416923,2	MCF-7	breast:
33	chr21:16389368..16391133-chr21:16479000..16481220,2	K562	blood:
34	chr21:16377732..16380502-chr21:16580282..16582809,3	MCF-7	breast:
35	chr21:16413139..16415983-chr21:16435318..16439452,4	MCF-7	breast:
36	chr21:16384405..16386106-chr21:16392542..16394997,2	K562	blood:
37	chr21:16390155..16392486-chr21:16399376..16401448,2	MCF-7	breast:
38	chr21:16423642..16425341-chr21:16436698..16438268,2	K562	blood:
39	chr21:16401281..16403693-chr21:16405918..16408150,2	MCF-7	breast:
40	chr21:16421439..16423697-chr21:16426275..16428108,2	MCF-7	breast:
41	chr21:16384405..16386106-chr21:16392542..16394997,2	K562	blood:
42	chr21:16397267..16399986-chr21:16410765..16412488,2	K562	blood:
43	chr21:16395914..16397790-chr21:16432209..16434496,2	MCF-7	breast:
44	chr21:16404641..16407621-chr21:16410737..16413727,2	K562	blood:
45	chr21:16394934..16397671-chr21:16408444..16410714,3	MCF-7	breast:
46	chr21:16404641..16407621-chr21:16410737..16413727,2	K562	blood:
47	chr21:16234362..16237223-chr21:16420995..16422874,2	MCF-7	breast:
48	chr21:16397947..16400507-chr21:16406341..16409146,2	MCF-7	breast:
49	chr21:16391286..16392945-chr21:16436833..16439609,2	MCF-7	breast:
50	chr21:16406540..16409317-chr21:16411969..16415649,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236471	chromatin interactions
ENSG00000180530	chromatin interactions

Extended variants
information (count: 1687 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1687 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2823004	chr21:16380025-16380026	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534277459	chr21:16380057-16380058	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs552931983	chr21:16380080-16380081	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs368191508	chr21:16380087-16380088	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs548056800	chr21:16380088-16380089	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs141284491	chr21:16380152-16380153	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs146982749	chr21:16380170-16380171	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs556782755	chr21:16380181-16380182	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs575970783	chr21:16380219-16380220	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs80182704	chr21:16380255-16380256	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs558117515	chr21:16380273-16380274	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs571851046	chr21:16380287-16380288	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs529978515	chr21:16380295-16380296	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs550071301	chr21:16380307-16380308	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs567356365	chr21:16380329-16380330	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs182491291	chr21:16380343-16380344	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs373606680	chr21:16380378-16380379	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs543370528	chr21:16380395-16380396	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs2823005	chr21:16380429-16380430	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs79592311	chr21:16380473-16380474	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs187300238	chr21:16380519-16380520	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs138418406	chr21:16380535-16380536	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs527789110	chr21:16380554-16380555	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs75925217	chr21:16380620-16380621	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs375563050	chr21:16380651-16380652	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs190103804	chr21:16380661-16380662	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs147111105	chr21:16380677-16380678	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs532772005	chr21:16380683-16380684	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs183109081	chr21:16380687-16380688	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs187365781	chr21:16380718-16380719	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs9985093	chr21:16380738-16380739	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs532302598	chr21:16380741-16380742	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs193104906	chr21:16380752-16380753	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs185837894	chr21:16380756-16380757	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs552354055	chr21:16380839-16380840	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527820617	chr21:16380887-16380888	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74606402	chr21:16380967-16380968	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143905777	chr21:16380991-16380992	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2823006	chr21:16380994-16380995	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs147263030	chr21:16380995-16380996	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556867701	chr21:16381033-16381034	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577113105	chr21:16381034-16381035	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546072532	chr21:16381042-16381043	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565289385	chr21:16381063-16381064	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35106453	chr21:16381110-16381111	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374965574	chr21:16381126-16381127	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536667718	chr21:16381159-16381160	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188756707	chr21:16381184-16381185	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139703694	chr21:16381217-16381218	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561462787	chr21:16381218-16381219	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	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:1337 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16341200-16388600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr21:16360400-16380200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr21:16360400-16402600	Weak transcription	Placenta	Placenta
4	chr21:16362200-16385800	Weak transcription	K562	blood
5	chr21:16363400-16383000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr21:16364800-16423000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr21:16368600-16414600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr21:16370200-16383600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr21:16374200-16383400	Genic enhancers	HSMM	muscle
10	chr21:16374600-16381400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr21:16374800-16394600	Weak transcription	GM12878-XiMat	blood
12	chr21:16374800-16423200	Weak transcription	Colonic Mucosa	Colon
13	chr21:16375800-16387000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr21:16376200-16380400	Weak transcription	Gastric	stomach
15	chr21:16376200-16383000	Weak transcription	Pancreas	Pancrea
16	chr21:16376200-16392200	Weak transcription	Lung	lung
17	chr21:16376200-16401600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr21:16376600-16401800	Weak transcription	Fetal Muscle Leg	muscle
19	chr21:16377000-16381800	Weak transcription	Spleen	Spleen
20	chr21:16377000-16382600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr21:16377600-16380400	Genic enhancers	A549	lung
22	chr21:16378000-16383200	Weak transcription	Fetal Brain Male	brain
23	chr21:16378000-16383400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr21:16378000-16387400	Weak transcription	HMEC	breast
25	chr21:16378000-16387400	Weak transcription	NHEK	skin
26	chr21:16378000-16388600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr21:16378200-16380200	Enhancers	Osteobl	bone
28	chr21:16378200-16382400	Weak transcription	Fetal Brain Female	brain
29	chr21:16378200-16382800	Weak transcription	Fetal Stomach	stomach
30	chr21:16378200-16383200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr21:16378200-16383400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr21:16378200-16387400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr21:16378200-16390600	Weak transcription	Brain Substantia Nigra	brain
34	chr21:16378400-16400600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr21:16378600-16380200	Enhancers	Liver	Liver
36	chr21:16378600-16380200	Weak transcription	Fetal Kidney	kidney
37	chr21:16378600-16383400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr21:16378600-16398200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr21:16378800-16380400	Enhancers	Dnd41	blood
40	chr21:16378800-16388800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr21:16378800-16390600	Weak transcription	Colon Smooth Muscle	Colon
42	chr21:16378800-16406000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr21:16379000-16380200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
44	chr21:16379000-16381000	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr21:16379000-16381000	Genic enhancers	HepG2	liver
46	chr21:16379000-16381800	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr21:16379000-16400400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr21:16379200-16380200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr21:16379200-16380200	Weak transcription	HSMMtube	muscle
50	chr21:16379200-16380600	Genic enhancers	Duodenum Mucosa	Duodenum

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