Variant report

Variant	nsv945340
Chromosome Location	chr1:227758923-227760558
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227753749..227755890-chr1:227756873..227759865,3	K562	blood:
2	chr1:227751815..227753395-chr1:227758245..227760827,2	K562	blood:
3	chr1:227747468..227754046-chr1:227756230..227762193,11	K562	blood:
4	chr1:227758119..227760802-chr16:33923322..33925835,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181450	chromatin interactions
ENSG00000202264	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111600946	chr1:227758936-227758937	Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs79940846	chr1:227758952-227758953	Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs78170754	chr1:227758958-227758959	Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs74592065	chr1:227758999-227759000	Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs112224511	chr1:227759002-227759003	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs74492285	chr1:227759032-227759033	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs79578157	chr1:227759037-227759038	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs16847956	chr1:227759060-227759061	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs186351869	chr1:227759061-227759062	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs202132061	chr1:227759100-227759101	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs190748949	chr1:227759106-227759107	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs183707185	chr1:227759120-227759121	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs531217902	chr1:227759185-227759186	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs146193099	chr1:227759245-227759246	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs186537663	chr1:227759247-227759248	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs559496241	chr1:227759251-227759252	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs574735506	chr1:227759284-227759285	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs111247823	chr1:227759294-227759295	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs542030771	chr1:227759311-227759312	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs538626664	chr1:227759314-227759315	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs77652649	chr1:227759325-227759326	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs552227563	chr1:227759330-227759331	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs1874371	chr1:227759356-227759357	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs75570701	chr1:227759359-227759360	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs78460876	chr1:227759393-227759394	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs76823511	chr1:227759408-227759409	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs116590853	chr1:227759413-227759414	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs200761018	chr1:227759420-227759421	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs571946502	chr1:227759424-227759425	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs80108149	chr1:227759443-227759444	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs552256989	chr1:227759460-227759461	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs191817177	chr1:227759513-227759514	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs528374544	chr1:227759514-227759515	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs1874372	chr1:227759526-227759527	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs568253286	chr1:227759539-227759540	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs535604462	chr1:227759548-227759549	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs187111252	chr1:227759570-227759571	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs191548193	chr1:227759612-227759613	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs539533952	chr1:227759615-227759616	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs373880879	chr1:227759633-227759634	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs557451759	chr1:227759692-227759693	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs566155428	chr1:227759695-227759696	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs534980262	chr1:227759697-227759698	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs182167097	chr1:227759708-227759709	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs187956397	chr1:227759724-227759725	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs542032240	chr1:227759738-227759739	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs534065631	chr1:227759755-227759756	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs12080590	chr1:227759771-227759772	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs369747767	chr1:227759789-227759790	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs202132989	chr1:227759798-227759799	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
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
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
Breast cancer	17603634	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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227752000-227759800	Weak transcription	Left Ventricle	heart
2	chr1:227752000-227760000	Weak transcription	Esophagus	oesophagus
3	chr1:227752000-227766800	Weak transcription	Ovary	ovary
4	chr1:227752200-227760000	Weak transcription	Fetal Intestine Large	intestine
5	chr1:227752200-227763200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:227752200-227774400	Weak transcription	Aorta	Aorta
7	chr1:227752400-227759600	Weak transcription	Primary T cells from cord blood	blood
8	chr1:227752400-227759800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:227752400-227759800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:227752400-227759800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:227752400-227760000	Weak transcription	Fetal Kidney	kidney
12	chr1:227752400-227760000	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:227752400-227760000	Weak transcription	NHEK	skin
14	chr1:227752400-227760200	Weak transcription	Fetal Heart	heart
15	chr1:227752400-227760200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr1:227752400-227763000	Weak transcription	Stomach Mucosa	stomach
17	chr1:227752400-227763800	Weak transcription	HSMMtube	muscle
18	chr1:227752400-227766800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:227752400-227780600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:227752600-227759800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:227752600-227760000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr1:227752600-227760000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:227752600-227760000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:227752800-227759400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:227753200-227760000	Weak transcription	Small Intestine	intestine
26	chr1:227753600-227763000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:227754000-227759800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr1:227754200-227760000	Weak transcription	Thymus	Thymus
29	chr1:227754400-227759800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:227754400-227760000	Weak transcription	Fetal Stomach	stomach
31	chr1:227754400-227783600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:227755800-227760000	Weak transcription	HSMM	muscle
33	chr1:227756800-227759800	Weak transcription	K562	blood
34	chr1:227756800-227760000	Weak transcription	Right Ventricle	heart
35	chr1:227756800-227760000	Weak transcription	Spleen	Spleen
36	chr1:227756800-227760200	Weak transcription	Psoas Muscle	Psoas
37	chr1:227756800-227760400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr1:227756800-227762400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr1:227757000-227760000	Weak transcription	Gastric	stomach
40	chr1:227758000-227760000	Weak transcription	Pancreas	Pancrea
41	chr1:227758200-227759800	Weak transcription	Fetal Lung	lung
42	chr1:227758400-227759400	Weak transcription	Osteobl	bone
43	chr1:227758400-227760000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:227758400-227761400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:227758600-227759800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:227758800-227759000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr1:227759400-227761000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
48	chr1:227759600-227760400	ZNF genes & repeats	Primary T cells from cord blood	blood
49	chr1:227759800-227760000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
50	chr1:227759800-227760200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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