Variant report

Variant	esv3453491
Chromosome Location	chr1:227462942-227482283
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:28)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:227468539..227470129-chr1:227473158..227475443,2	K562	blood:
2	chr1:227477234..227482232-chr1:227484947..227488828,5	K562	blood:
3	chr1:227472633..227474570-chr1:227477067..227478764,2	K562	blood:
4	chr1:227451075..227453118-chr1:227462471..227464273,2	K562	blood:
5	chr1:227477181..227481565-chr1:227505488..227508633,5	MCF-7	breast:
6	chr1:227480336..227482044-chr1:227483405..227484935,2	K562	blood:
7	chr1:227461718..227464574-chr1:227466542..227468149,2	K562	blood:
8	chr1:227474282..227476737-chr1:227504672..227506541,2	K562	blood:
9	chr1:227472633..227474570-chr1:227477067..227478764,2	K562	blood:
10	chr1:227468377..227470578-chr1:227471178..227474571,3	K562	blood:
11	chr1:227480441..227495625-chr1:227496855..227507828,32	K562	blood:
12	chr1:227461159..227463186-chr1:227466378..227468211,2	MCF-7	breast:
13	chr1:227461159..227463186-chr1:227466378..227468211,2	MCF-7	breast:
14	chr1:227468539..227470129-chr1:227473158..227475443,2	K562	blood:
15	chr1:227461391..227464005-chr1:227469962..227472348,2	K562	blood:
16	chr1:227472840..227475102-chr1:227475698..227478764,3	K562	blood:
17	chr1:227339177..227341705-chr1:227470311..227471926,2	K562	blood:
18	chr1:227465837..227468311-chr1:227473296..227476222,2	K562	blood:
19	chr1:227465837..227468311-chr1:227473296..227476222,2	K562	blood:
20	chr1:227454247..227456630-chr1:227461574..227463571,2	K562	blood:
21	chr1:227472187..227474714-chr1:227565582..227567693,2	K562	blood:
22	chr1:227461391..227464005-chr1:227469962..227472348,2	K562	blood:
23	chr1:227472840..227475102-chr1:227475698..227478764,3	K562	blood:
24	chr1:227461718..227464574-chr1:227466542..227468149,2	K562	blood:
25	chr1:227371203..227372814-chr1:227466811..227469363,2	K562	blood:
26	chr1:227445055..227447131-chr1:227475888..227477429,2	K562	blood:
27	chr1:227468377..227470578-chr1:227471178..227474571,3	K562	blood:
28	chr1:227453182..227454826-chr1:227468013..227470218,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF678-5	chr1:227469373-227472002	l_204_chr1:227466302-227471954_brain
2	lnc-ZNF678-5	chr1:227466303-227468235	l_204_chr1:227466302-227471954_brain

No data

Variant related genes	Relation type
ENSG00000236636	chromatin interactions
ENSG00000143776	chromatin interactions

Extended variants
information (count: 792 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:792 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536548486	chr1:227463000-227463001	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs548912101	chr1:227463043-227463044	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs543572044	chr1:227463074-227463075	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs182063065	chr1:227463092-227463093	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs531698790	chr1:227463102-227463103	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs142517252	chr1:227463118-227463119	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs200649120	chr1:227463123-227463124	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs368041761	chr1:227463142-227463143	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs187917078	chr1:227463179-227463180	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs542114014	chr1:227463232-227463233	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs201781562	chr1:227463236-227463237	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs397983086	chr1:227463242-227463243	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs371144525	chr1:227463292-227463293	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs578115073	chr1:227463293-227463294	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs12759363	chr1:227463310-227463311	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs537669917	chr1:227463321-227463322	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs193041540	chr1:227463352-227463353	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs577429147	chr1:227463356-227463357	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs185790641	chr1:227463368-227463369	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs189931802	chr1:227463376-227463377	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs148826437	chr1:227463429-227463430	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs541746283	chr1:227463451-227463452	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs563632712	chr1:227463456-227463457	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs575077152	chr1:227463484-227463485	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs373274894	chr1:227463502-227463503	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs115319671	chr1:227463506-227463507	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs563805401	chr1:227463511-227463512	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs12745095	chr1:227463518-227463519	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs12741049	chr1:227463533-227463534	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs12759688	chr1:227463538-227463539	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs12741056	chr1:227463544-227463545	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs12759692	chr1:227463551-227463552	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs539797450	chr1:227463552-227463553	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs12758553	chr1:227463556-227463557	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs374529016	chr1:227463562-227463563	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs111554325	chr1:227463574-227463575	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs528924228	chr1:227463593-227463594	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs548585561	chr1:227463605-227463606	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs192323137	chr1:227463649-227463650	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs571062993	chr1:227463652-227463653	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs367790129	chr1:227463653-227463654	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs112282634	chr1:227463672-227463673	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs146120251	chr1:227463685-227463686	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs10916111	chr1:227463696-227463697	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs188504732	chr1:227463702-227463703	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs141328040	chr1:227463781-227463782	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs535116714	chr1:227463832-227463833	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs553470327	chr1:227463833-227463834	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs568344461	chr1:227463843-227463844	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs538016702	chr1:227463874-227463875	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227431600-227486200	Weak transcription	NHDF-Ad	bronchial
2	chr1:227433000-227469000	Weak transcription	Aorta	Aorta
3	chr1:227434600-227468800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:227443400-227474000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:227447200-227473600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:227449600-227473600	Weak transcription	NH-A	brain
7	chr1:227449800-227465200	Weak transcription	K562	blood
8	chr1:227452800-227463800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:227453000-227468600	Weak transcription	Lung	lung
10	chr1:227454200-227470400	Weak transcription	Ovary	ovary
11	chr1:227456600-227468800	Weak transcription	Left Ventricle	heart
12	chr1:227458600-227469400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:227458800-227472200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:227459400-227469400	Weak transcription	NHEK	skin
15	chr1:227459600-227465800	Weak transcription	A549	lung
16	chr1:227461400-227464000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:227461800-227465000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr1:227462600-227473600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:227462600-227500200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:227463000-227473000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:227463800-227464400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:227463800-227464800	Weak transcription	Brain Substantia Nigra	brain
23	chr1:227464000-227464400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
24	chr1:227464000-227464400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:227464000-227464400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:227464400-227468000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:227464400-227469000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:227464400-227472800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr1:227464400-227472800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:227464600-227468600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:227464600-227468600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:227464600-227469400	Weak transcription	Gastric	stomach
33	chr1:227465000-227465400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
34	chr1:227465000-227465400	Enhancers	Brain Substantia Nigra	brain
35	chr1:227465400-227465600	Weak transcription	Brain Substantia Nigra	brain
36	chr1:227465400-227465800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:227465400-227472200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr1:227465600-227466000	Enhancers	Brain Substantia Nigra	brain
39	chr1:227465600-227468600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:227465800-227466000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:227465800-227466200	Enhancers	A549	lung
42	chr1:227466000-227468600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:227466000-227468800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:227466200-227473200	Weak transcription	A549	lung
45	chr1:227466600-227467000	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr1:227466800-227468600	Weak transcription	K562	blood
47	chr1:227466800-227472400	Weak transcription	Fetal Intestine Large	intestine
48	chr1:227467000-227468600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr1:227467000-227472600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr1:227467200-227485800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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