Variant report

Variant	esv1845965
Chromosome Location	chr1:224184836-224194776
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:195)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:195 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr1:224191763-224192172	GM12878	blood:	n/a	n/a
2	BATF	chr1:224191763-224192234	GM12878	blood:	n/a	n/a
3	BCL11A	chr1:224191830-224192355	GM12878	blood:	n/a	chr1:224192201-224192210
4	CBX3	chr1:224192280-224192953	K562	blood:	n/a	n/a
5	CEBPB	chr1:224192369-224192505	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr1:224192360-224192459	K562	blood:	n/a	n/a
7	CTCF	chr1:224192320-224192470	SAEC	small airway:	n/a	n/a
8	CTCF	chr1:224192360-224192527	HUVEC	blood vessel:	n/a	n/a
9	CTCF	chr1:224192380-224192530	GM12866	blood:	n/a	n/a
10	CTCF	chr1:224192360-224192510	HMEC	breast:	n/a	n/a
11	CTCF	chr1:224192346-224192535	HepG2	liver:	n/a	n/a
12	CTCF	chr1:224192340-224192490	NHDF-neo	bronchial:	n/a	n/a
13	CTCF	chr1:224192340-224192490	MCF-7	breast:	n/a	n/a
14	CTCF	chr1:224192360-224192518	K562	blood:	n/a	n/a
15	CTCF	chr1:224192420-224192570	GM12865	blood:	n/a	n/a
16	CTCF	chr1:224192355-224192504	GM12878	blood:	n/a	n/a
17	CTCF	chr1:224192360-224192510	HPF	lung:	n/a	n/a
18	CTCF	chr1:224192340-224192490	GM12872	blood:	n/a	n/a
19	CTCF	chr1:224192380-224192530	GM12868	blood:	n/a	n/a
20	CTCF	chr1:224192345-224192537	K562	blood:	n/a	n/a
21	CTCF	chr1:224192400-224192550	HMF	breast:	n/a	n/a
22	CTCF	chr1:224192327-224192553	K562	blood:	n/a	n/a
23	CTCF	chr1:224192341-224192525	MCF-7	breast:	n/a	n/a
24	CTCF	chr1:224192380-224192530	AG04449	skin:	n/a	n/a
25	CTCF	chr1:224192271-224192581	K562	blood:	n/a	n/a
26	CTCF	chr1:224192360-224192510	HPAF	blood vessel:	n/a	n/a
27	CTCF	chr1:224192340-224192490	GM12867	blood:	n/a	n/a
28	CTCF	chr1:224192360-224192510	AoAF	blood vessel:	n/a	n/a
29	CTCF	chr1:224192340-224192490	HBMEC	blood vessel:	n/a	n/a
30	CTCF	chr1:224192420-224192570	HVMF	connective:	n/a	n/a
31	CTCF	chr1:224192360-224192510	HAc	cerebellar:	n/a	n/a
32	CTCF	chr1:224192600-224192750	GM12872	blood:	n/a	n/a
33	CTCF	chr1:224192380-224192530	AG09319	gingival:	n/a	n/a
34	CTCF	chr1:224192360-224192510	HMF	breast:	n/a	n/a
35	CTCF	chr1:224192380-224192530	HMEC	breast:	n/a	n/a
36	CTCF	chr1:224192340-224192490	GM12875	blood:	n/a	n/a
37	CTCF	chr1:224192400-224192550	AG09309	skin:	n/a	n/a
38	CTCF	chr1:224192323-224192536	Gliobla	brain:	n/a	n/a
39	CTCF	chr1:224192400-224192550	HEK293	kidney:	n/a	n/a
40	CTCF	chr1:224192380-224192530	GM12872	blood:	n/a	n/a
41	CTCF	chr1:224192380-224192530	HRE	kidney:	n/a	n/a
42	CTCF	chr1:224192380-224192530	HCPEpiC	choroid plexus:	n/a	n/a
43	CTCF	chr1:224192224-224192677	A549	lung:	n/a	n/a
44	CTCF	chr1:224192420-224192570	HFF-Myc	foreskin:	n/a	n/a
45	CTCF	chr1:224192389-224192519	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr1:224192341-224192499	HepG2	liver:	n/a	n/a
47	CTCF	chr1:224192420-224192570	HCT-116	colon:	n/a	n/a
48	CTCF	chr1:224192380-224192530	GM12874	blood:	n/a	n/a
49	CTCF	chr1:224192360-224192510	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr1:224192660-224192810	HPAF	blood vessel:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223885675..223886337-chr1:224192381..224192903,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXO28-1	chr1:224190224-224190324	NONHSAT009761
2	lnc-FBXO28-1	chr1:224191211-224191356	NONHSAT009764
3	lnc-FBXO28-1	chr1:224190224-224190324	ENSG00000185495.6
4	lnc-FBXO28-1	chr1:224191222-224191356	ENSG00000185495.6
5	lnc-FBXO28-1	chr1:224191222-224191356	NONHSAT009761
6	lnc-FBXO28-1	chr1:224189609-224191356	NONHSAT009763
7	lnc-FBXO28-1	chr1:224190017-224190324	NONHSAT009760
8	lnc-FBXO28-1	chr1:224191295-224191356	NONHSAT009760

No data

Variant related genes	Relation type
ENSG00000185495	TF binding region
ENSG00000263182	TF binding region

Extended variants
information (count: 290 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:290 , 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	rs10753432	chr1:224184861-224184862	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs12562032	chr1:224184869-224184870	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs374864735	chr1:224184905-224184906	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549827996	chr1:224184942-224184943	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12239018	chr1:224184990-224184991	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538458647	chr1:224185026-224185027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs28694650	chr1:224185059-224185060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs180904750	chr1:224185060-224185061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200416088	chr1:224185065-224185066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553448454	chr1:224185089-224185090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538099992	chr1:224185206-224185207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377247845	chr1:224185214-224185215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370469773	chr1:224185347-224185348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11799820	chr1:224185349-224185350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542213924	chr1:224185372-224185373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575656485	chr1:224185447-224185448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537718872	chr1:224185462-224185463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558993669	chr1:224185470-224185471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577317704	chr1:224185472-224185473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201695064	chr1:224185582-224185583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541307612	chr1:224185627-224185628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559875001	chr1:224185753-224185754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562083063	chr1:224185755-224185756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139141086	chr1:224185878-224185879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563645575	chr1:224185880-224185881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530826117	chr1:224185922-224185923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550003040	chr1:224185951-224185952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565080183	chr1:224185966-224185967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532326605	chr1:224186092-224186093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530989146	chr1:224186118-224186119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185010002	chr1:224186160-224186161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565417736	chr1:224186257-224186258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535916865	chr1:224186258-224186259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12562321	chr1:224186260-224186261	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs569596675	chr1:224186296-224186297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564124707	chr1:224186326-224186327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145499847	chr1:224186340-224186341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559197070	chr1:224186447-224186448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577505545	chr1:224186516-224186517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535214972	chr1:224186601-224186602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190206746	chr1:224186656-224186657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575106669	chr1:224186676-224186677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533195626	chr1:224186746-224186747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182509656	chr1:224186772-224186773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186867518	chr1:224186773-224186774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575591492	chr1:224186814-224186815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545919244	chr1:224186847-224186848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565171994	chr1:224186902-224186903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546563233	chr1:224186908-224186909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs59052313	chr1:224186912-224186913	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:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224181200-224185600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr1:224181200-224199200	Weak transcription	Brain Substantia Nigra	brain
3	chr1:224181400-224186800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:224181400-224199200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:224181600-224187000	Weak transcription	Fetal Lung	lung
6	chr1:224181600-224192000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:224181600-224192000	Weak transcription	K562	blood
8	chr1:224181600-224192400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:224181600-224192400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:224181600-224192400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:224181600-224193600	Weak transcription	Fetal Brain Female	brain
12	chr1:224181600-224195000	Weak transcription	HSMM	muscle
13	chr1:224181600-224195400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr1:224181600-224195800	Weak transcription	HSMMtube	muscle
15	chr1:224181600-224196400	Weak transcription	Fetal Intestine Large	intestine
16	chr1:224181600-224196400	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:224181600-224196400	Weak transcription	A549	lung
18	chr1:224181600-224199000	Weak transcription	Fetal Stomach	stomach
19	chr1:224181600-224199200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr1:224181600-224199200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:224181600-224199200	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr1:224181600-224199200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr1:224181600-224199200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:224181600-224199200	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:224181600-224199400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:224181600-224199400	Weak transcription	NH-A	brain
27	chr1:224181800-224185600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:224181800-224186400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr1:224181800-224186800	Weak transcription	Primary B cells from cord blood	blood
30	chr1:224181800-224191600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:224181800-224192000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:224181800-224192000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:224181800-224192600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:224181800-224192600	Weak transcription	Liver	Liver
35	chr1:224181800-224195200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:224181800-224195600	Weak transcription	Fetal Intestine Small	intestine
37	chr1:224181800-224196600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr1:224181800-224197800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:224181800-224199200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:224181800-224199200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:224181800-224199200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr1:224181800-224199200	Weak transcription	Adipose Nuclei	Adipose
43	chr1:224181800-224199200	Weak transcription	Brain Anterior Caudate	brain
44	chr1:224181800-224199200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr1:224181800-224199200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr1:224181800-224199200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:224181800-224199200	Weak transcription	Fetal Kidney	kidney
48	chr1:224181800-224199200	Weak transcription	Ovary	ovary
49	chr1:224181800-224199200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr1:224181800-224199200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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