Variant report

Variant	nsv947073
Chromosome Location	chr1:227755113-227760558
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:227751815..227753395-chr1:227758245..227760827,2	K562	blood:
2	chr1:227751959..227755569-chr1:227762720..227764448,3	MCF-7	breast:
3	chr1:227754198..227755750-chr1:227920040..227921876,2	K562	blood:
4	chr1:227753836..227756057-chr1:227770854..227772985,2	K562	blood:
5	chr1:227753749..227755890-chr1:227756873..227759865,3	K562	blood:
6	chr1:227758119..227760802-chr16:33923322..33925835,2	MCF-7	breast:
7	chr1:227747468..227754046-chr1:227756230..227762193,11	K562	blood:
8	chr1:227753749..227755890-chr1:227756873..227759865,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000202264	chromatin interactions
ENSG00000181450	chromatin interactions

Extended variants
information (count: 294 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:294 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531290280	chr1:227755214-227755215	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182855234	chr1:227755282-227755283	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564722447	chr1:227755295-227755296	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532173009	chr1:227755355-227755356	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547216977	chr1:227755386-227755387	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560370917	chr1:227755397-227755398	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186979984	chr1:227755404-227755405	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532715585	chr1:227755412-227755413	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567104695	chr1:227755418-227755419	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141534963	chr1:227755453-227755454	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73090985	chr1:227755464-227755465	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs10799424	chr1:227755475-227755476	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs568880819	chr1:227755488-227755489	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537885236	chr1:227755505-227755506	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79569347	chr1:227755569-227755570	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556660451	chr1:227755580-227755581	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115507373	chr1:227755591-227755592	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571565707	chr1:227755595-227755596	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561653545	chr1:227755597-227755598	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553901089	chr1:227755651-227755652	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs139453286	chr1:227755666-227755667	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs542547275	chr1:227755725-227755726	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs560726551	chr1:227755748-227755749	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs2313245	chr1:227755767-227755768	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs543140563	chr1:227755792-227755793	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs564951473	chr1:227755804-227755805	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs368260579	chr1:227755810-227755811	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs532108881	chr1:227755843-227755844	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs547339186	chr1:227755895-227755896	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs372721768	chr1:227755908-227755909	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs191402359	chr1:227755915-227755916	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs78646314	chr1:227755959-227755960	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs3033456	chr1:227756014-227756015	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs56242411	chr1:227756015-227756016	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397793497	chr1:227756025-227756026	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567851944	chr1:227756052-227756053	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200042789	chr1:227756104-227756105	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35920210	chr1:227756106-227756107	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375325569	chr1:227756107-227756108	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35928670	chr1:227756108-227756109	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369858127	chr1:227756116-227756117	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550112264	chr1:227756132-227756133	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536325458	chr1:227756144-227756145	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571687329	chr1:227756180-227756181	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538772470	chr1:227756238-227756239	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs554121117	chr1:227756244-227756245	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs76281409	chr1:227756252-227756253	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs185056312	chr1:227756280-227756281	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs189389105	chr1:227756287-227756288	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs193177435	chr1:227756321-227756322	Weak transcription Enhancers ZNF genes & repeats Strong transcription	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:213 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227751800-227756400	Weak transcription	Spleen	Spleen
2	chr1:227752000-227755600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:227752000-227756200	Weak transcription	Gastric	stomach
4	chr1:227752000-227756400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:227752000-227756400	Weak transcription	Lung	lung
6	chr1:227752000-227757400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:227752000-227759800	Weak transcription	Left Ventricle	heart
8	chr1:227752000-227760000	Weak transcription	Esophagus	oesophagus
9	chr1:227752000-227766800	Weak transcription	Ovary	ovary
10	chr1:227752200-227755600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:227752200-227756200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:227752200-227756400	Weak transcription	Right Ventricle	heart
13	chr1:227752200-227758200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:227752200-227758800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:227752200-227760000	Weak transcription	Fetal Intestine Large	intestine
16	chr1:227752200-227763200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:227752200-227774400	Weak transcription	Aorta	Aorta
18	chr1:227752400-227755200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:227752400-227755400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:227752400-227755600	Weak transcription	HSMM	muscle
21	chr1:227752400-227755800	Weak transcription	NHLF	lung
22	chr1:227752400-227756000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:227752400-227756200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:227752400-227756600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:227752400-227756600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:227752400-227757000	Weak transcription	NHDF-Ad	bronchial
27	chr1:227752400-227757400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr1:227752400-227757600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:227752400-227757800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:227752400-227758000	Weak transcription	Osteobl	bone
31	chr1:227752400-227758200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:227752400-227759600	Weak transcription	Primary T cells from cord blood	blood
33	chr1:227752400-227759800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:227752400-227759800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:227752400-227759800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr1:227752400-227760000	Weak transcription	Fetal Kidney	kidney
37	chr1:227752400-227760000	Weak transcription	Fetal Muscle Leg	muscle
38	chr1:227752400-227760000	Weak transcription	NHEK	skin
39	chr1:227752400-227760200	Weak transcription	Fetal Heart	heart
40	chr1:227752400-227760200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:227752400-227763000	Weak transcription	Stomach Mucosa	stomach
42	chr1:227752400-227763800	Weak transcription	HSMMtube	muscle
43	chr1:227752400-227766800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:227752400-227780600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr1:227752600-227755600	Weak transcription	Fetal Brain Female	brain
46	chr1:227752600-227755800	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr1:227752600-227756200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:227752600-227756200	Weak transcription	Pancreas	Pancrea
49	chr1:227752600-227756600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:227752600-227757800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links