Variant report

Variant	nsv825942
Chromosome Location	chr1:195820864-195821597
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:195815546..195818437-chr1:195820213..195822021,2	K562	blood:
2	chr1:195817026..195821248-chr1:195822021..195827460,5	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542814459	chr1:195820868-195820869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34266824	chr1:195820889-195820890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555150507	chr1:195820899-195820900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532728229	chr1:195820935-195820936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373388680	chr1:195820941-195820942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114503823	chr1:195820984-195820985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6428305	chr1:195821035-195821036	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs6428306	chr1:195821064-195821065	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs6428307	chr1:195821071-195821072	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs541049031	chr1:195821116-195821117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12116610	chr1:195821118-195821119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559552725	chr1:195821129-195821130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs193286916	chr1:195821130-195821131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548857467	chr1:195821146-195821147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10604763	chr1:195821203-195821204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185469509	chr1:195821210-195821211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148129238	chr1:195821234-195821235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6428308	chr1:195821256-195821257	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs78777499	chr1:195821267-195821268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs68116742	chr1:195821268-195821269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7534294	chr1:195821275-195821276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544556539	chr1:195821281-195821282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6428309	chr1:195821284-195821285	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs35515018	chr1:195821402-195821403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10921957	chr1:195821403-195821404	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs536396547	chr1:195821412-195821413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548450828	chr1:195821452-195821453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187669692	chr1:195821457-195821458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201192179	chr1:195821465-195821466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35035491	chr1:195821468-195821469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201983697	chr1:195821469-195821470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116200490	chr1:195821473-195821474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540985297	chr1:195821482-195821483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200799362	chr1:195821504-195821505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574833120	chr1:195821510-195821511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10921958	chr1:195821551-195821552	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs141892701	chr1:195821582-195821583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192116691	chr1:195821587-195821588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195817400-195821200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr1:195818000-195821200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr1:195818000-195825400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:195818000-195826000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:195818200-195821400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:195818200-195821600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr1:195818400-195821400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:195820200-195821200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:195820200-195823400	Enhancers	HMEC	breast
10	chr1:195820400-195821200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:195820800-195821200	Enhancers	H9 Cell Line	embryonic stem cell
12	chr1:195820800-195821600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:195820800-195823800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:195821400-195823200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:195821400-195823400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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