Variant report

Variant	esv17562
Chromosome Location	chr1:224074599-224112449
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:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:224061505..224063787-chr1:224074137..224075680,2	K562	blood:
2	chr1:223900030..223900536-chr1:224108678..224109196,2	K562	blood:
3	chr1:224064879..224067819-chr1:224073518..224075866,3	K562	blood:
4	chr1:224070627..224072910-chr1:224076240..224077802,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PARP1-3	chr1:224098433-224099085	expRegAs_chr1_21128_-
2	lnc-PARP1-4	chr1:224096672-224097019	expRegAs_chr1_21127_-

No data

Variant related genes	Relation type
ENSG00000162909	chromatin interactions

Extended variants
information (count: 682 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:682 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34029161	chr1:224074635-224074636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572709756	chr1:224074673-224074674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369918756	chr1:224074721-224074722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527494439	chr1:224074726-224074727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78553312	chr1:224074738-224074739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79101389	chr1:224074739-224074740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73116451	chr1:224074744-224074745	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs576347051	chr1:224074768-224074769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543470380	chr1:224074769-224074770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10915948	chr1:224074773-224074774	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs191153424	chr1:224074803-224074804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140388177	chr1:224074868-224074869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559906805	chr1:224074869-224074870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527529296	chr1:224074873-224074874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549016245	chr1:224074877-224074878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150388462	chr1:224074903-224074904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183359258	chr1:224074911-224074912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529215938	chr1:224074928-224074929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138000458	chr1:224074940-224074941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11803593	chr1:224074946-224074947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539321125	chr1:224074978-224074979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372301793	chr1:224074990-224074991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116777150	chr1:224075009-224075010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566234326	chr1:224075010-224075011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552444478	chr1:224075013-224075014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12747926	chr1:224075046-224075047	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs111911545	chr1:224075059-224075060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374881804	chr1:224075060-224075061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs58841573	chr1:224075091-224075092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35247859	chr1:224075092-224075093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555015026	chr1:224075096-224075097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576482685	chr1:224075097-224075098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537581583	chr1:224075107-224075108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558664555	chr1:224075113-224075114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576867809	chr1:224075127-224075128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12028220	chr1:224075128-224075129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146461030	chr1:224075158-224075159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115659745	chr1:224075167-224075168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571867211	chr1:224075172-224075173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542472222	chr1:224075233-224075234	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs12743534	chr1:224075299-224075300	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs12031089	chr1:224075336-224075337	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs113165146	chr1:224075340-224075341	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs543535000	chr1:224075341-224075342	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs564862815	chr1:224075357-224075358	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs115524929	chr1:224075403-224075404	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs548072395	chr1:224075440-224075441	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs10915950	chr1:224075483-224075484	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs12031127	chr1:224075502-224075503	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs12032570	chr1:224075538-224075539	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:98)

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
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	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
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Cancer	17060936	CNVD
Ewing''s sarcoma	19144156	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224072200-224076000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:224072200-224077000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr1:224072400-224076000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:224073000-224077400	Enhancers	Liver	Liver
5	chr1:224073400-224075000	Enhancers	HepG2	liver
6	chr1:224073600-224076200	Enhancers	Psoas Muscle	Psoas
7	chr1:224074000-224075400	Enhancers	Hela-S3	cervix
8	chr1:224074200-224074600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr1:224074200-224075200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:224074200-224075400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr1:224074200-224075400	Enhancers	A549	lung
12	chr1:224074200-224076200	Enhancers	Fetal Muscle Leg	muscle
13	chr1:224074400-224074800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:224074400-224075000	Enhancers	NHEK	skin
15	chr1:224074400-224075200	Enhancers	HSMMtube	muscle
16	chr1:224074400-224075400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:224074400-224075400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:224074400-224075400	Enhancers	NHLF	lung
19	chr1:224074400-224075600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr1:224074400-224076200	Enhancers	Right Atrium	heart
21	chr1:224074400-224079200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:224074600-224075400	Enhancers	NH-A	brain
23	chr1:224074600-224075800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:224074600-224076000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:224074800-224075600	Enhancers	Left Ventricle	heart
26	chr1:224074800-224075800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:224075000-224075400	Weak transcription	NHEK	skin
28	chr1:224075000-224075600	Enhancers	Fetal Heart	heart
29	chr1:224075000-224075600	Enhancers	HSMM	muscle
30	chr1:224075000-224075600	Enhancers	NHDF-Ad	bronchial
31	chr1:224075000-224075600	Enhancers	Osteobl	bone
32	chr1:224075000-224075800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr1:224075000-224075800	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr1:224075200-224075400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:224075200-224075400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:224075200-224075400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr1:224075200-224075400	Flanking Active TSS	HSMMtube	muscle
38	chr1:224075200-224075600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:224075200-224075600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:224075200-224075600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr1:224075200-224075800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:224075200-224076200	Enhancers	Fetal Stomach	stomach
43	chr1:224075400-224075800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:224075400-224075800	Flanking Active TSS	NH-A	brain
45	chr1:224075400-224075800	Flanking Active TSS	NHLF	lung
46	chr1:224075400-224076000	Active TSS	Stomach Smooth Muscle	stomach
47	chr1:224075400-224076000	Active TSS	HSMMtube	muscle
48	chr1:224075400-224076200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:224075400-224076400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:224075400-224076400	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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