Variant report

Variant	nsv872889
Chromosome Location	chr1:194857420-195018786
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:194828434..194829987-chr1:194856393..194858664,2	K562	blood:
2	chr1:194975514..194978503-chr1:194979065..194981637,2	MCF-7	breast:
3	chr1:194883565..194884392-chr3:64008754..64009520,2	MCF-7	breast:
4	chr1:194894090..194896590-chr1:194908541..194910307,2	MCF-7	breast:
5	chr1:194864008..194866177-chr1:194870859..194873394,2	K562	blood:
6	chr1:195005563..195007915-chr1:195009562..195011162,2	K562	blood:
7	chr1:194927782..194929413-chr1:194932247..194935027,2	MCF-7	breast:
8	chr1:194956938..194959266-chr1:194974594..194976244,2	K562	blood:
9	chr1:195005563..195007915-chr1:195009562..195011162,2	K562	blood:
10	chr1:194975514..194978503-chr1:194979065..194981637,2	MCF-7	breast:
11	chr1:194820017..194822446-chr1:194943208..194945267,2	K562	blood:
12	chr1:194894090..194896590-chr1:194908541..194910307,2	MCF-7	breast:
13	chr1:194976691..194979568-chr1:194983292..194986112,2	K562	blood:
14	chr1:194940992..194943005-chr1:194943083..194945420,2	MCF-7	breast:
15	chr1:194927782..194929413-chr1:194932247..194935027,2	MCF-7	breast:
16	chr1:194839665..194841497-chr1:194856335..194858376,2	K562	blood:
17	chr1:194976691..194979568-chr1:194983292..194986112,2	K562	blood:
18	chr1:194956938..194959266-chr1:194974594..194976244,2	K562	blood:
19	chr1:194827292..194830199-chr1:194885354..194888376,3	K562	blood:
20	chr1:194864008..194866177-chr1:194870859..194873394,2	K562	blood:
21	chr1:194940992..194943005-chr1:194943083..194945420,2	MCF-7	breast:
22	chr1:194830443..194832725-chr1:194885679..194888143,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163636	chromatin interactions

Extended variants
information (count: 707 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:707 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2479677	chr1:194857420-194857421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542356813	chr1:194857486-194857487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146803336	chr1:194857488-194857489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535804433	chr1:194857526-194857527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567494585	chr1:194857590-194857591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540099190	chr1:194857597-194857598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139531543	chr1:194857667-194857668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2479676	chr1:194857770-194857771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs111462772	chr1:194857777-194857778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190863305	chr1:194857839-194857840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2479675	chr1:194857879-194857880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs2479674	chr1:194857932-194857933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs151030674	chr1:194857949-194857950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529773259	chr1:194858013-194858014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140410910	chr1:194858028-194858029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs180889425	chr1:194858055-194858056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540726701	chr1:194858188-194858189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562955721	chr1:194858245-194858246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186138530	chr1:194858308-194858309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552049381	chr1:194858319-194858320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570441291	chr1:194858362-194858363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150373192	chr1:194858379-194858380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560636429	chr1:194858387-194858388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546493455	chr1:194858397-194858398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191030294	chr1:194858399-194858400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371753476	chr1:194858430-194858431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs377313596	chr1:194858484-194858485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs145032755	chr1:194858493-194858494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs368409372	chr1:194858521-194858522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs142118862	chr1:194858533-194858534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs539871120	chr1:194858552-194858553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs558476035	chr1:194858562-194858563	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs339632	chr1:194858580-194858581	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs145879210	chr1:194858608-194858609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs555686237	chr1:194858617-194858618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs552410248	chr1:194858645-194858646	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs368960616	chr1:194858671-194858672	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs182863468	chr1:194858756-194858757	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs12057605	chr1:194858762-194858763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs188854058	chr1:194858806-194858807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138704620	chr1:194858837-194858838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545427822	chr1:194858932-194858933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191603661	chr1:194858937-194858938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs59378119	chr1:194858990-194858991	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs546727112	chr1:194859012-194859013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35953442	chr1:194859038-194859039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568170546	chr1:194859042-194859043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529126937	chr1:194859064-194859065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562875056	chr1:194859066-194859067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550777105	chr1:194859075-194859076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	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
Hepatocellular carcinoma	18803288	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Medulloblastoma	21163964	CNVD
Maculopathy	22022419	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Maculopathy	22355348	CNVD
Schizophrenia	21346763	CNVD
early-passage human iPS cells	21368824	CNVD
Recurrent pregnancy loss	19789632	CNVD
Autism	21865298	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Ollier disease	21235737	CNVD
Maculopathy	21850184	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194852800-194858400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:194858400-194858800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:194858400-194858800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:194858400-194858800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:194858400-194858800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:194858400-194858800	ZNF genes & repeats	Gastric	stomach
7	chr1:194858400-194858800	ZNF genes & repeats	Right Atrium	heart
8	chr1:194858800-194859400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:194858800-194860800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:194860800-194861000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:194886600-194887200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:194886800-194887200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:194887200-194888200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:194887200-194888200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:194888000-194888800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr1:194888200-194888600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:194888200-194888800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr1:194888400-194888600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:194888400-194888800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr1:194898400-194899400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:194899400-194900200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:194900200-194900400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:194908600-194910800	Enhancers	Fetal Brain Male	brain
24	chr1:194908800-194910000	Enhancers	Fetal Brain Female	brain
25	chr1:194910000-194910400	Weak transcription	Fetal Brain Female	brain
26	chr1:194910400-194910800	Enhancers	Fetal Brain Female	brain
27	chr1:194921200-194921800	Enhancers	Brain Germinal Matrix	brain
28	chr1:194934800-194936400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:194937400-194937800	Enhancers	Brain Germinal Matrix	brain
30	chr1:194951400-194951600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:194976800-194977800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr1:194976800-194977800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr1:194977800-194980000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:194977800-194980200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:194980000-194980800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr1:194980200-194980600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr1:194980200-194980800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:194988600-194989000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr1:194988600-194989000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr1:194988800-194989200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr1:194999600-195000200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:195005000-195005400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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