Variant report

Variant	esv3350171
Chromosome Location	chr1:224198229-224205327
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXO28-1	chr1:224196429-224198309	ENSG00000185495.6
2	lnc-FBXO28-1	chr1:224196429-224198314	ENSG00000263182.1

Extended variants
information (count: 827 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:827 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549678405	chr1:224198232-224198233	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs536092873	chr1:224198270-224198271	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs112948892	chr1:224198299-224198300	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs550785571	chr1:224198305-224198306	Weak transcription ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs569544491	chr1:224198327-224198328	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181365234	chr1:224198346-224198347	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2404851	chr1:224198354-224198355	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs143928334	chr1:224198381-224198382	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572914278	chr1:224198395-224198396	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534567710	chr1:224198425-224198426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553237342	chr1:224198432-224198433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113600729	chr1:224198447-224198448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574545441	chr1:224198470-224198471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542049869	chr1:224198500-224198501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186949626	chr1:224198549-224198550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2995832	chr1:224198561-224198562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2995831	chr1:224198562-224198563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575439777	chr1:224198598-224198599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2995830	chr1:224198599-224198600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2995829	chr1:224198635-224198636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112442745	chr1:224198636-224198637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528095685	chr1:224198662-224198663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547309211	chr1:224198672-224198673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200827577	chr1:224198706-224198707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562444403	chr1:224198753-224198754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201279828	chr1:224198778-224198779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529449552	chr1:224198791-224198792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113500016	chr1:224198827-224198828	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs200128787	chr1:224198850-224198851	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs200606531	chr1:224198868-224198869	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs551180126	chr1:224198869-224198870	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs201776731	chr1:224198886-224198887	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs145809023	chr1:224198916-224198917	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs113898641	chr1:224198945-224198946	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs368113709	chr1:224198946-224198947	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs566484030	chr1:224198948-224198949	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs10799413	chr1:224198994-224198995	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs10916136	chr1:224198995-224198996	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs190885826	chr1:224198998-224198999	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs115554899	chr1:224199007-224199008	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs557092529	chr1:224199078-224199079	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs182410288	chr1:224199092-224199093	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs573476548	chr1:224199108-224199109	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs187779693	chr1:224199117-224199118	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs192796577	chr1:224199148-224199149	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs183234523	chr1:224199149-224199150	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs142089878	chr1:224199183-224199184	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs151175156	chr1:224199210-224199211	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187814344	chr1:224199239-224199240	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547605034	chr1:224199276-224199277	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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

Chromatin state (count:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224181200-224199200	Weak transcription	Brain Substantia Nigra	brain
2	chr1:224181400-224199200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:224181600-224199000	Weak transcription	Fetal Stomach	stomach
4	chr1:224181600-224199200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:224181600-224199200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:224181600-224199200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr1:224181600-224199200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:224181600-224199200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:224181600-224199200	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:224181600-224199400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:224181600-224199400	Weak transcription	NH-A	brain
12	chr1:224181800-224199200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:224181800-224199200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:224181800-224199200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:224181800-224199200	Weak transcription	Adipose Nuclei	Adipose
16	chr1:224181800-224199200	Weak transcription	Brain Anterior Caudate	brain
17	chr1:224181800-224199200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:224181800-224199200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:224181800-224199200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:224181800-224199200	Weak transcription	Fetal Kidney	kidney
21	chr1:224181800-224199200	Weak transcription	Ovary	ovary
22	chr1:224181800-224199200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr1:224181800-224199200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr1:224181800-224201800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:224182200-224198800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:224182200-224199000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:224182200-224199000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:224182200-224199000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr1:224182200-224199200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr1:224182200-224199200	Weak transcription	Dnd41	blood
31	chr1:224182200-224199200	Weak transcription	GM12878-XiMat	blood
32	chr1:224184800-224199200	Weak transcription	Left Ventricle	heart
33	chr1:224187200-224199000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr1:224187200-224199200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:224188200-224199200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr1:224188400-224199200	Weak transcription	Fetal Lung	lung
37	chr1:224188400-224199200	Weak transcription	NHDF-Ad	bronchial
38	chr1:224190000-224199200	Weak transcription	Gastric	stomach
39	chr1:224190600-224199200	Weak transcription	HUVEC	blood vessel
40	chr1:224190800-224199200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:224190800-224199200	Weak transcription	Brain Hippocampus Middle	brain
42	chr1:224191600-224199200	Weak transcription	Brain Angular Gyrus	brain
43	chr1:224191800-224199200	Weak transcription	Pancreas	Pancrea
44	chr1:224192200-224199000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr1:224192600-224199200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:224192800-224199200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr1:224192800-224199200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:224192800-224199200	Weak transcription	K562	blood
49	chr1:224193000-224199000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:224193000-224199200	Weak transcription	Primary T cells fromperipheralblood	blood

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