Variant report

Variant	esv3400632
Chromosome Location	chr1:225588879-225592877
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:29)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:225588576-225588899	A549	lung:	n/a	chr1:225588706-225588717 chr1:225588705-225588718 chr1:225588705-225588718 chr1:225588617-225588630
2	IRF1	chr1:225589643-225589797	K562	blood:	n/a	n/a
3	JUN	chr1:225589787-225589840	K562	blood:	n/a	n/a
4	POLR2A	chr1:225591440-225591454	K562	blood:	n/a	n/a
5	POLR2A	chr1:225588732-225588891	K562	blood:	n/a	n/a
6	POLR2A	chr1:225583265-225592214	K562	blood:	n/a	n/a
7	POLR2A	chr1:225591987-225592010	K562	blood:	n/a	n/a
8	POLR2A	chr1:225592461-225603516	K562	blood:	n/a	n/a
9	RFX5	chr1:225590436-225590631	K562	blood:	n/a	n/a
10	STAT3	chr1:225589932-225590133	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:225590862-225590912	HRCEpiC	kidney:	n/a
2	chr1:225590862-225590912	Jurkat	blood:	n/a
3	chr1:225590862-225590912	HAEpiC	amniotic membrane:	n/a
4	chr1:225590862-225590912	Caco-2	colon:	n/a
5	chr1:225590862-225590912	RPTEC	kidney:	n/a
6	chr1:225590862-225590912	GM12891	blood:	n/a
7	chr1:225590862-225590912	HUVEC	blood vessel:	n/a
8	chr1:225590862-225590912	GM12878	blood:	n/a
9	chr1:225590862-225590912	U87	brain:	n/a
10	chr1:225590862-225590912	AoSMC	blood vessel:	n/a
11	chr1:225590862-225590912	A549	lung:	n/a
12	chr1:225590862-225590912	ProgFib	skin:	n/a
13	chr1:225590862-225590912	HMEC	breast:	n/a
14	chr1:225590862-225590912	Hepatocyte	liver:	n/a
15	chr1:225590862-225590912	HNPCEpiC	eye:	n/a
16	chr1:225590862-225590912	NH-A	brain:	n/a
17	chr1:225590862-225590912	MCF-7	breast:	n/a
18	chr1:225590862-225590912	MCF10A-Er-Src	breast:	n/a
19	chr1:225590862-225590912	NT2-D1	testis:	n/a
20	chr1:225590862-225590912	BJ	skin:	n/a
21	chr1:225590862-225590912	HepG2	liver:	n/a
22	chr1:225590862-225590912	H1-hESC	embryonic stem cell:	embryo
23	chr1:225590862-225590912	K562	blood:	n/a
24	chr1:225590862-225590912	SAEC	small airway:	n/a
25	chr1:225590862-225590912	NHDF-neo	bronchial:	n/a
26	chr1:225590862-225590912	HIPEpiC	eye:	n/a
27	chr1:225590862-225590912	HPAEpiC	pulmonary alveolar:	n/a
28	chr1:225590862-225590912	NHBE	bronchial:	n/a
29	chr1:225590862-225590912	HRE	kidney:	n/a
30	chr1:225590862-225590912	AG04449	skin:	fetal
31	chr1:225590862-225590912	HCPEpiC	choroid plexus:	n/a
32	chr1:225590862-225590912	LNCaP	prostate:	n/a
33	chr1:225590862-225590912	AG04450	lung:	fetal
34	chr1:225590862-225590912	ovcar-3	ovarian:	n/a
35	chr1:225590862-225590912	SK-N-MC	brain:	n/a
36	chr1:225590862-225590912	AG10803	skin:	n/a
37	chr1:225590862-225590912	SKMC	muscle:	n/a
38	chr1:225590862-225590912	SK-N-SH_RA	brain:	n/a
39	chr1:225590862-225590912	BE2_C	brain:	n/a
40	chr1:225590862-225590912	CMK	blood:	n/a
41	chr1:225590862-225590912	HCM	heart:	n/a
42	chr1:225590862-225590912	HEK293	kidney:	embryo
43	chr1:225590862-225590912	HCT-116	colon:	n/a
44	chr1:225590862-225590912	AG09319	gingival:	n/a
45	chr1:225590862-225590912	GM12892	blood:	n/a
46	chr1:225590862-225590912	GM19239	blood:	n/a
47	chr1:225590862-225590912	Hela-S3	cervix:	n/a
48	chr1:225590862-225590912	IMR90	lung:	fetal
49	chr1:225590862-225590912	NB4	blood:	n/a
50	chr1:225590862-225590912	HEEpiC	esophagus:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:225588103..225590846-chr1:225628088..225629720,2	K562	blood:
2	chr1:225590339..225593004-chr1:225614495..225616348,2	MCF-7	breast:
3	chr1:225586897..225589752-chr1:225607136..225609975,2	MCF-7	breast:
4	chr1:225592721..225593555-chr12:51520651..51521367,2	Hela-S3	cervix:

No data

(count:29 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	LBR	hsa-miR-340-5p	chr1:225590112-225590134
2	LBR	hsa-miR-421	chr1:225590103-225590123
3	LBR	hsa-miR-181a-5p	chr1:225590337-225590331
4	LBR	hsa-miR-340-5p	chr1:225589905-225589929
5	LBR	hsa-miR-340-5p	chr1:225589992-225590013
6	LBR	hsa-miR-148a-3p	chr1:225590910-225590932
7	LBR	hsa-miR-186-5p	chr1:225589506-225589527
8	LBR	hsa-miR-24-3p	chr1:225589627-225589621
9	LBR	hsa-miR-186-5p	chr1:225589356-225589381
10	LBR	hsa-miR-23b-3p	chr1:225590253-225590273
11	LBR	hsa-miR-101-3p	chr1:225590707-225590727
12	LBR	hsa-miR-23b-3p	chr1:225590329-225590348
13	LBR	hsa-let-7b-5p	chr1:225590139-225590161
14	LBR	hsa-miR-148a-3p	chr1:225590916-225590909
15	LBR	hsa-miR-340-5p	chr1:225589247-225589274
16	LBR	hsa-miR-181a-5p	chr1:225590331-225590356
17	LBR	hsa-miR-23b-3p	chr1:225590335-225590329
18	LBR	hsa-miR-101-3p	chr1:225589926-225589946
19	LBR	hsa-miR-19b-3p	chr1:225590142-225590168
20	LBR	hsa-let-7d-5p	chr1:225590139-225590161
21	LBR	hsa-let-7b-5p	chr1:225590145-225590138
22	LBR	hsa-miR-196a-5p	chr1:225590140-225590161
23	LBR	hsa-miR-340-5p	chr1:225590118-225590111
24	LBR	hsa-miR-130b-3p	chr1:225590911-225590933
25	LBR	hsa-let-7d-5p	chr1:225590145-225590138
26	LBR	hsa-miR-24-3p	chr1:225589622-225589643
27	LBR	hsa-miR-19b-3p	chr1:225589952-225589976
28	LBR	hsa-miR-23b-3p	chr1:225590259-225590252
29	LBR	hsa-miR-27a-3p	chr1:225590705-225590725

Variant related genes	Relation type
LBR	TF binding region
LBR	CpG island
ENSG00000143815	chromatin interactions

Extended variants
information (count: 154 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:154 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76157954	chr1:225588883-225588884	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376127513	chr1:225588948-225588949	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552940404	chr1:225588953-225588954	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141145066	chr1:225588982-225588983	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552099640	chr1:225589014-225589015	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192772288	chr1:225589049-225589050	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185552445	chr1:225589071-225589072	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140491279	chr1:225589121-225589122	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568007863	chr1:225589129-225589130	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149718839	chr1:225589153-225589154	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35270731	chr1:225589156-225589157	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556989987	chr1:225589184-225589185	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190809569	chr1:225589203-225589204	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539602874	chr1:225589223-225589224	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557657265	chr1:225589230-225589231	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572795845	chr1:225589258-225589259	Weak transcription Strong transcription Genic enhancers	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
17	rs36104417	chr1:225589353-225589354	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112847128	chr1:225589355-225589356	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148878615	chr1:225589373-225589374	Weak transcription Strong transcription Genic enhancers	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
20	rs181401210	chr1:225589419-225589420	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541977100	chr1:225589428-225589429	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563789864	chr1:225589459-225589460	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7406	chr1:225589473-225589474	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs185887146	chr1:225589478-225589479	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564811845	chr1:225589529-225589530	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528804363	chr1:225589625-225589626	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
27	rs188426506	chr1:225589631-225589632	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
28	rs14205	chr1:225589644-225589645	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs528846487	chr1:225589653-225589654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11551875	chr1:225589667-225589668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181244136	chr1:225589700-225589701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138408339	chr1:225589732-225589733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142324082	chr1:225589742-225589743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539293039	chr1:225589750-225589751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551149735	chr1:225589755-225589756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553767609	chr1:225589777-225589778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566286795	chr1:225589801-225589802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533835261	chr1:225589805-225589806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186699858	chr1:225589842-225589843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573671761	chr1:225589853-225589854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536222809	chr1:225589877-225589878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368967565	chr1:225589922-225589923	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
43	rs574777323	chr1:225590000-225590001	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
44	rs146434391	chr1:225590032-225590033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557222889	chr1:225590033-225590034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115448388	chr1:225590061-225590062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114577052	chr1:225590146-225590147	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
48	rs541475300	chr1:225590204-225590205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573448057	chr1:225590215-225590216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75904736	chr1:225590236-225590237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Developmental delay	21147756	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

Chromatin state (count:211 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225568200-225595800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:225570800-225600000	Weak transcription	HSMMtube	muscle
3	chr1:225576200-225594400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:225578000-225597800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:225578000-225599200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:225580800-225599200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:225581400-225592600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:225581600-225596200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:225581800-225590800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:225582000-225597800	Weak transcription	Brain Anterior Caudate	brain
11	chr1:225582200-225591600	Weak transcription	Brain Angular Gyrus	brain
12	chr1:225582200-225591800	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:225582200-225610400	Strong transcription	Fetal Thymus	thymus
14	chr1:225582600-225592400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:225582600-225597800	Weak transcription	Fetal Brain Male	brain
16	chr1:225583200-225594000	Strong transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:225583200-225597800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:225583400-225589800	Strong transcription	Thymus	Thymus
19	chr1:225583400-225591400	Strong transcription	Stomach Smooth Muscle	stomach
20	chr1:225583400-225595400	Strong transcription	Fetal Brain Female	brain
21	chr1:225583400-225598000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:225583400-225601600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr1:225583400-225601600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr1:225583400-225601800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:225583600-225597800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:225583600-225602200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr1:225583800-225589600	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:225583800-225597800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:225583800-225601600	Strong transcription	Primary B cells from cord blood	blood
30	chr1:225584000-225603800	Weak transcription	Psoas Muscle	Psoas
31	chr1:225584200-225610600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:225584400-225600600	Weak transcription	Stomach Mucosa	stomach
33	chr1:225584800-225589400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:225584800-225595000	Strong transcription	Fetal Intestine Large	intestine
35	chr1:225584800-225609800	Strong transcription	Dnd41	blood
36	chr1:225584800-225610400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:225585000-225589200	Strong transcription	Fetal Stomach	stomach
38	chr1:225585000-225589800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:225585000-225593000	Strong transcription	NHEK	skin
40	chr1:225585000-225595600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:225585000-225595600	Strong transcription	Adipose Nuclei	Adipose
42	chr1:225585000-225609800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr1:225585000-225609800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:225585000-225609800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:225585000-225610400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:225585200-225589800	Strong transcription	Primary T cells from cord blood	blood
47	chr1:225585200-225589800	Strong transcription	Fetal Lung	lung
48	chr1:225585200-225595000	Strong transcription	HMEC	breast
49	chr1:225585200-225596000	Strong transcription	Liver	Liver
50	chr1:225585200-225609800	Strong transcription	Primary T helper cells fromperipheralblood	blood

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