Variant report

Variant	nsv873178
Chromosome Location	chr1:216714314-216813244
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:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:216527475..216530440-chr1:216773266..216776037,2	MCF-7	breast:
2	chr1:216774056..216774839-chr1:216915422..216916227,3	MCF-7	breast:
3	chr1:216740049..216740610-chr1:217507843..217508439,2	MCF-7	breast:
4	chr1:216765465..216768393-chr1:216768731..216771064,2	MCF-7	breast:
5	chr1:216779274..216782113-chr1:216794475..216796920,2	MCF-7	breast:
6	chr1:216739850..216740707-chr1:216769423..216770025,2	MCF-7	breast:
7	chr1:216768575..216772450-chr1:216772804..216775706,3	MCF-7	breast:
8	chr1:216734438..216737180-chr1:216741885..216744740,3	MCF-7	breast:
9	chr1:216765465..216768393-chr1:216768731..216771064,2	MCF-7	breast:
10	chr1:216801298..216803605-chr1:216804434..216807072,2	K562	blood:
11	chr1:216722054..216724356-chr1:216727051..216729733,2	K562	blood:
12	chr1:216483926..216484436-chr1:216740017..216740785,2	MCF-7	breast:
13	chr1:216773881..216776068-chr2:18058093..18060883,2	MCF-7	breast:
14	chr1:216772875..216776991-chr1:216777748..216786237,10	MCF-7	breast:
15	chr1:216739850..216740707-chr1:216769423..216770025,2	MCF-7	breast:
16	chr1:216772875..216776991-chr1:216777748..216786237,10	MCF-7	breast:
17	chr1:216764221..216767085-chr1:216773070..216774787,2	MCF-7	breast:
18	chr1:216779274..216782113-chr1:216794475..216796920,2	MCF-7	breast:
19	chr1:216734438..216737180-chr1:216741885..216744740,3	MCF-7	breast:
20	chr1:216722054..216724356-chr1:216727051..216729733,2	K562	blood:
21	chr1:216739958..216740765-chr1:216915802..216916535,2	MCF-7	breast:
22	chr1:216801298..216803605-chr1:216804434..216807072,2	K562	blood:
23	chr1:216710901..216713537-chr1:216715491..216718215,2	MCF-7	breast:
24	chr1:216739906..216740741-chr1:216915729..216916621,3	MCF-7	breast:
25	chr1:216480349..216481313-chr1:216739870..216740593,2	MCF-7	breast:
26	chr1:216778086..216780767-chr1:216784639..216786517,2	MCF-7	breast:
27	chr1:216778086..216780767-chr1:216784639..216786517,2	MCF-7	breast:
28	chr1:216705301..216708105-chr1:216716452..216719098,3	MCF-7	breast:
29	chr1:216479663..216480513-chr1:216739675..216740627,3	MCF-7	breast:
30	chr1:216755828..216757414-chr1:216760890..216762450,2	MCF-7	breast:
31	chr1:216483841..216485069-chr1:216739823..216740961,7	MCF-7	breast:
32	chr1:216755828..216757414-chr1:216760890..216762450,2	MCF-7	breast:
33	chr1:216768575..216772450-chr1:216772804..216775706,3	MCF-7	breast:
34	chr1:216764221..216767085-chr1:216773070..216774787,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000170745	chromatin interactions

Extended variants
information (count: 3761 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:3761 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17042779	chr1:216714314-216714315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182672023	chr1:216714335-216714336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186646499	chr1:216714344-216714345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552905049	chr1:216714366-216714367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74705665	chr1:216714377-216714378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533246737	chr1:216714385-216714386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573061123	chr1:216714403-216714404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545050828	chr1:216714430-216714431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7542009	chr1:216714461-216714462	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs191107019	chr1:216714495-216714496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538504359	chr1:216714508-216714509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77451339	chr1:216714554-216714555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111981103	chr1:216714648-216714649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544321032	chr1:216714734-216714735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560917800	chr1:216714736-216714737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561771970	chr1:216714855-216714856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529762875	chr1:216714877-216714878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540788090	chr1:216714880-216714881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35069005	chr1:216714904-216714905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560542150	chr1:216714919-216714920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375354202	chr1:216714930-216714931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146342165	chr1:216714945-216714946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs397814646	chr1:216714948-216714949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75546283	chr1:216714950-216714951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200200344	chr1:216714953-216714954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113359291	chr1:216715013-216715014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79800319	chr1:216715082-216715083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568904902	chr1:216715096-216715097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182897040	chr1:216715118-216715119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548182453	chr1:216715141-216715142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568505042	chr1:216715161-216715162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534054159	chr1:216715180-216715181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138102880	chr1:216715193-216715194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188651439	chr1:216715213-216715214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143754934	chr1:216715256-216715257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568404058	chr1:216715295-216715296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147210167	chr1:216715299-216715300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575612189	chr1:216715306-216715307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537801594	chr1:216715318-216715319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138839681	chr1:216715348-216715349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535960059	chr1:216715378-216715379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142779994	chr1:216715383-216715384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4253964	chr1:216715408-216715409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12751540	chr1:216715413-216715414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542148144	chr1:216715415-216715416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560465143	chr1:216715419-216715420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527314580	chr1:216715420-216715421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552189046	chr1:216715422-216715423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564039590	chr1:216715423-216715424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs3040899	chr1:216715450-216715451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:602 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216705000-216714400	Weak transcription	Gastric	stomach
2	chr1:216705400-216721000	Weak transcription	Pancreas	Pancrea
3	chr1:216705400-216734800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:216708800-216744600	Weak transcription	Left Ventricle	heart
5	chr1:216709600-216714600	Weak transcription	Fetal Heart	heart
6	chr1:216714400-216715000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:216714600-216714800	Enhancers	Fetal Heart	heart
8	chr1:216717600-216723200	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:216721800-216774000	Weak transcription	Placenta	Placenta
10	chr1:216722400-216723000	Enhancers	Fetal Heart	heart
11	chr1:216723000-216723200	Flanking Active TSS	Fetal Heart	heart
12	chr1:216723200-216723400	Enhancers	Fetal Heart	heart
13	chr1:216723200-216723400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr1:216723200-216724000	Enhancers	Fetal Lung	lung
15	chr1:216723200-216724000	Enhancers	Fetal Muscle Leg	muscle
16	chr1:216723400-216723600	Flanking Active TSS	Fetal Heart	heart
17	chr1:216723400-216723600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr1:216723600-216723800	Enhancers	Fetal Heart	heart
19	chr1:216723600-216723800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr1:216723800-216724000	Flanking Active TSS	Fetal Heart	heart
21	chr1:216723800-216724200	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr1:216724000-216726600	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:216724000-216726800	Enhancers	Fetal Heart	heart
24	chr1:216725000-216725400	Enhancers	Fetal Brain Male	brain
25	chr1:216726200-216726800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr1:216726400-216726800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:216726400-216726800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:216726400-216727000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr1:216726600-216726800	Enhancers	Fetal Muscle Leg	muscle
30	chr1:216728000-216729200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:216728400-216729400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:216729200-216733800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:216729400-216733800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:216732600-216732800	Weak transcription	Fetal Heart	heart
35	chr1:216732800-216735800	Enhancers	Fetal Heart	heart
36	chr1:216733800-216734200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:216733800-216734400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:216733800-216734600	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr1:216733800-216734800	Enhancers	Stomach Mucosa	stomach
40	chr1:216734000-216734400	Active TSS	Duodenum Mucosa	Duodenum
41	chr1:216734000-216734400	Active TSS	Right Ventricle	heart
42	chr1:216734200-216736600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:216734600-216735000	Enhancers	Duodenum Mucosa	Duodenum
44	chr1:216735800-216738800	Weak transcription	Fetal Heart	heart
45	chr1:216735800-216755000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:216736400-216736600	Weak transcription	Fetal Muscle Leg	muscle
47	chr1:216736600-216736800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:216736600-216736800	Enhancers	Fetal Muscle Leg	muscle
49	chr1:216736800-216743400	Weak transcription	Fetal Muscle Leg	muscle
50	chr1:216736800-216744400	Weak transcription	Psoas Muscle	Psoas

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