Variant report

Variant	esv2434057
Chromosome Location	chr1:224246472-224248330
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:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:224237229..224240186-chr1:224247839..224250746,3	K562	blood:
2	chr1:223958981..223961667-chr1:224244026..224246906,2	K562	blood:
3	chr1:224247694..224250426-chr1:224266425..224268055,2	K562	blood:
4	chr1:224247719..224250710-chr1:224272098..224273883,2	K562	blood:
5	chr1:224233420..224235277-chr1:224246228..224248630,2	K562	blood:
6	chr1:224244471..224246198-chr1:224247592..224249226,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXO28-3	chr1:224247660-224247846	NONHSAT009770
2	lnc-FBXO28-3	chr1:224246570-224246652	NONHSAT009770

No data

Extended variants
information (count: 53 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537390771	chr1:224246529-224246530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145298246	chr1:224246638-224246639	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs185690010	chr1:224246647-224246648	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs147853979	chr1:224246678-224246679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534904188	chr1:224246679-224246680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553023277	chr1:224246687-224246688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149197655	chr1:224246730-224246731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112282021	chr1:224246731-224246732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557118937	chr1:224246745-224246746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6663154	chr1:224246746-224246747	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs369667290	chr1:224246754-224246755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115986245	chr1:224246764-224246765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530070360	chr1:224246772-224246773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs117130149	chr1:224246810-224246811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189214613	chr1:224246857-224246858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577375423	chr1:224246870-224246871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548165513	chr1:224246914-224246915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562929614	chr1:224247078-224247079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113906684	chr1:224247118-224247119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111514702	chr1:224247119-224247120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112302206	chr1:224247122-224247123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2404613	chr1:224247138-224247139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576607784	chr1:224247576-224247577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545354664	chr1:224247578-224247579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs137929215	chr1:224247629-224247630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376605153	chr1:224247638-224247639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74146304	chr1:224247663-224247664	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs115721791	chr1:224247682-224247683	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs180891330	chr1:224247723-224247724	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs527993564	chr1:224247724-224247725	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs570833963	chr1:224247736-224247737	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs185018272	chr1:224247761-224247762	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs553163858	chr1:224247849-224247850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568208816	chr1:224247862-224247863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140936141	chr1:224247870-224247871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557299102	chr1:224247872-224247873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188652772	chr1:224247874-224247875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369381881	chr1:224247875-224247876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144604192	chr1:224247972-224247973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181288107	chr1:224247992-224247993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148205314	chr1:224248011-224248012	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541186188	chr1:224248113-224248114	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559627574	chr1:224248117-224248118	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547344572	chr1:224248138-224248139	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574452398	chr1:224248145-224248146	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541595508	chr1:224248182-224248183	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563412904	chr1:224248222-224248223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs58330428	chr1:224248228-224248229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530399008	chr1:224248237-224248238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552155780	chr1:224248238-224248239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
Cancer	17060936	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224244400-224247000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:224244800-224248000	Enhancers	HUVEC	blood vessel
3	chr1:224245000-224246600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:224245000-224246800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:224245000-224247000	Enhancers	HMEC	breast
6	chr1:224245400-224246600	Enhancers	NH-A	brain
7	chr1:224245400-224246800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:224245600-224250600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:224245800-224247600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr1:224245800-224247800	Weak transcription	K562	blood
11	chr1:224245800-224249200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:224245800-224251000	Weak transcription	Fetal Intestine Large	intestine
13	chr1:224245800-224251400	Weak transcription	Stomach Mucosa	stomach
14	chr1:224246000-224246800	Enhancers	NHEK	skin
15	chr1:224246400-224246600	Enhancers	Gastric	stomach
16	chr1:224246400-224248600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:224246400-224253400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:224246600-224251400	Weak transcription	Gastric	stomach
19	chr1:224246800-224248000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:224246800-224251400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:224247000-224249000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:224247000-224252200	Weak transcription	HMEC	breast
23	chr1:224247600-224247800	Enhancers	Duodenum Mucosa	Duodenum
24	chr1:224247800-224249600	Enhancers	K562	blood
25	chr1:224248000-224248200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:224248000-224253200	Weak transcription	HUVEC	blood vessel
27	chr1:224248200-224248400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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