Variant report

Variant	esv15018
Chromosome Location	chr2:46769669-46770195
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:316)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:46768981-46769720	K562	blood:	n/a	n/a
2	ATF2	chr2:46768975-46769679	GM12878	blood:	n/a	n/a
3	ATF2	chr2:46768755-46769762	GM12878	blood:	n/a	n/a
4	ATF3	chr2:46769195-46769725	K562	blood:	n/a	chr2:46769469-46769479
5	ATF3	chr2:46768833-46769812	A549	lung:	n/a	chr2:46769469-46769479
6	BACH1	chr2:46768949-46769743	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr2:46768935-46769678	A549	lung:	n/a	n/a
8	BCLAF1	chr2:46768926-46769693	GM12878	blood:	n/a	n/a
9	BCLAF1	chr2:46768766-46769845	GM12878	blood:	n/a	chr2:46769824-46769833
10	BHLHE40	chr2:46768915-46769716	K562	blood:	n/a	n/a
11	BHLHE40	chr2:46768907-46769839	GM12878	blood:	n/a	n/a
12	CBX3	chr2:46768708-46769708	K562	blood:	n/a	n/a
13	CCNT2	chr2:46769390-46769977	K562	blood:	n/a	chr2:46769817-46769826
14	CEBPB	chr2:46768971-46769671	A549	lung:	n/a	chr2:46769466-46769477
15	CEBPB	chr2:46768777-46769805	A549	lung:	n/a	chr2:46769466-46769477
16	CEBPB	chr2:46768861-46769702	MCF-7	breast:	n/a	chr2:46769466-46769477
17	CEBPB	chr2:46768983-46769691	IMR90	lung:	n/a	chr2:46769466-46769477
18	CEBPB	chr2:46769176-46769690	MCF-7	breast:	n/a	chr2:46769466-46769477
19	CEBPB	chr2:46768916-46769693	K562	blood:	n/a	chr2:46769466-46769477
20	CEBPB	chr2:46769007-46769733	ECC-1	luminal epithelium:	n/a	chr2:46769466-46769477
21	CEBPB	chr2:46769188-46769694	HepG2	liver:	n/a	chr2:46769466-46769477
22	CEBPB	chr2:46769299-46769729	HepG2	liver:	n/a	chr2:46769466-46769477
23	CEBPB	chr2:46768928-46769675	Hela-S3	cervix:	n/a	chr2:46769466-46769477
24	CEBPB	chr2:46768945-46769728	GM12878	blood:	n/a	chr2:46769466-46769477
25	CEBPB	chr2:46768877-46769714	K562	blood:	n/a	chr2:46769466-46769477
26	CEBPB	chr2:46769242-46769704	ECC-1	luminal epithelium:	n/a	chr2:46769466-46769477
27	CEBPB	chr2:46769074-46769675	A549	lung:	n/a	chr2:46769466-46769477
28	CEBPD	chr2:46769314-46769811	HepG2	liver:	n/a	chr2:46769467-46769478
29	CEBPD	chr2:46769277-46769686	K562	blood:	n/a	chr2:46769467-46769478
30	CHD1	chr2:46768959-46769746	GM12878	blood:	n/a	n/a
31	CHD2	chr2:46768878-46769726	Hela-S3	cervix:	n/a	n/a
32	CHD2	chr2:46768917-46769817	GM12878	blood:	n/a	n/a
33	CREB1	chr2:46769298-46769751	A549	lung:	n/a	n/a
34	CREB1	chr2:46768712-46769987	A549	lung:	n/a	n/a
35	CREB1	chr2:46768862-46769856	GM12878	blood:	n/a	n/a
36	CTCF	chr2:46768688-46769726	GM12878	blood:	n/a	n/a
37	CTCF	chr2:46768045-46769933	SK-N-SH	brain:	n/a	n/a
38	CTCF	chr2:46769540-46769690	AG04449	skin:	n/a	n/a
39	CTCF	chr2:46769580-46769730	GM12868	blood:	n/a	n/a
40	CTCF	chr2:46767584-46769778	A549	lung:	n/a	n/a
41	CTCF	chr2:46768878-46769723	IMR90	lung:	n/a	n/a
42	E2F4	chr2:46769120-46769915	MCF10A-Er-Src	breast:	n/a	n/a
43	E2F4	chr2:46768909-46769912	K562	blood:	n/a	n/a
44	E2F6	chr2:46768981-46769926	A549	lung:	n/a	n/a
45	E2F6	chr2:46769368-46769858	K562	blood:	n/a	n/a
46	E2F6	chr2:46769514-46769884	K562	blood:	n/a	n/a
47	E2F6	chr2:46768690-46769867	A549	lung:	n/a	n/a
48	E2F6	chr2:46768889-46769911	K562	blood:	n/a	n/a
49	EBF1	chr2:46768944-46770029	GM12878	blood:	n/a	n/a
50	EBF1	chr2:46770120-46770490	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:46769831-46769881	HRPEpiC	eye:	n/a
2	chr2:46769831-46769881	HPAEpiC	pulmonary alveolar:	n/a
3	chr2:46769831-46769881	HCF	heart:	n/a
4	chr2:46769831-46769881	PrEC	prostate:	n/a
5	chr2:46769831-46769881	HIPEpiC	eye:	n/a
6	chr2:46769831-46769881	HRE	kidney:	n/a
7	chr2:46769831-46769881	A549	lung:	n/a
8	chr2:46769831-46769881	MCF10A-Er-Src	breast:	n/a
9	chr2:46769831-46769881	SK-N-SH_RA	brain:	n/a
10	chr2:46769831-46769881	GM12892	blood:	n/a
11	chr2:46769831-46769881	HUVEC	blood vessel:	n/a
12	chr2:46769831-46769881	AoSMC	blood vessel:	n/a
13	chr2:46769831-46769881	HEK293	kidney:	embryo
14	chr2:46769831-46769881	NHDF-neo	bronchial:	n/a
15	chr2:46769831-46769881	ProgFib	skin:	n/a
16	chr2:46769831-46769881	HRCEpiC	kidney:	n/a
17	chr2:46769831-46769881	ovcar-3	ovarian:	n/a
18	chr2:46769831-46769881	MCF-7	breast:	n/a
19	chr2:46769831-46769881	GM19239	blood:	n/a
20	chr2:46769831-46769881	NH-A	brain:	n/a
21	chr2:46769831-46769881	LNCaP	prostate:	n/a
22	chr2:46769831-46769881	Caco-2	colon:	n/a
23	chr2:46769831-46769881	SKMC	muscle:	n/a
24	chr2:46769831-46769881	Jurkat	blood:	n/a
25	chr2:46769831-46769881	AG04449	skin:	fetal
26	chr2:46769831-46769881	BE2_C	brain:	n/a
27	chr2:46769831-46769881	AG10803	skin:	n/a
28	chr2:46769831-46769881	SK-N-MC	brain:	n/a
29	chr2:46769831-46769881	NB4	blood:	n/a
30	chr2:46769831-46769881	PANC-1	pancreas:	n/a
31	chr2:46769831-46769881	HCM	heart:	n/a
32	chr2:46769831-46769881	H1-hESC	embryonic stem cell:	embryo
33	chr2:46769831-46769881	HCPEpiC	choroid plexus:	n/a
34	chr2:46769831-46769881	HEEpiC	esophagus:	n/a
35	chr2:46769831-46769881	AG04450	lung:	fetal
36	chr2:46769831-46769881	Hepatocyte	liver:	n/a
37	chr2:46769831-46769881	HCT-116	colon:	n/a
38	chr2:46769831-46769881	T-47D	breast:	n/a
39	chr2:46769831-46769881	HNPCEpiC	eye:	n/a
40	chr2:46769831-46769881	PFSK-1	brain:	n/a
41	chr2:46769831-46769881	BJ	skin:	n/a
42	chr2:46769831-46769881	SAEC	small airway:	n/a
43	chr2:46769831-46769881	AG09319	gingival:	n/a
44	chr2:46769831-46769881	NT2-D1	testis:	n/a
45	chr2:46769831-46769881	AG09309	skin:	n/a
46	chr2:46769831-46769881	CMK	blood:	n/a
47	chr2:46769831-46769881	HAEpiC	amniotic membrane:	n/a
48	chr2:46769831-46769881	HMEC	breast:	n/a
49	chr2:46769831-46769881	ECC-1	luminal epithelium:	n/a
50	chr2:46769831-46769881	HepG2	liver:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:46768702..46771490-chr2:47403057..47405507,2	MCF-7	breast:
2	chr2:46768715..46770395-chr2:47165746..47168568,2	MCF-7	breast:
3	chr2:46704470..46707025-chr2:46769256..46770963,2	MCF-7	breast:
4	chr2:46768345..46771564-chr2:46842518..46844841,5	MCF-7	breast:
5	chr2:46768098..46772914-chr2:46841294..46848059,11	K562	blood:
6	chr2:46768338..46773881-chr2:46842376..46848059,6	K562	blood:
7	chr2:46726438..46729524-chr2:46768838..46771074,3	K562	blood:
8	chr2:46724349..46729821-chr2:46769212..46772070,6	MCF-7	breast:
9	chr2:46767796..46769414-chr2:46769669..46772927,3	MCF-7	breast:
10	chr2:46726104..46727862-chr2:46768328..46770840,3	MCF-7	breast:
11	chr2:46661070..46664987-chr2:46768132..46770822,3	K562	blood:
12	chr2:46769235..46772209-chr2:46814826..46816628,2	K562	blood:
13	chr2:46721184..46729524-chr2:46766976..46775977,14	K562	blood:

No data

Variant related genes	Relation type
ATP6V1E2	TF binding region
RHOQ	TF binding region
ATP6V1E2	CpG island
RHOQ	CpG island
ENSG00000119729	chromatin interactions
ENSG00000151665	chromatin interactions
ENSG00000068724	chromatin interactions
ENSG00000187600	chromatin interactions
ENSG00000119878	chromatin interactions
ENSG00000250565	chromatin interactions
ENSG00000253515	chromatin interactions
ENSG00000143933	chromatin interactions

Extended variants
information (count: 4 )
Associated
traits (count: 69 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549893353	chr2:46769771-46769772	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs570004420	chr2:46769848-46769849	Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs185801067	chr2:46769946-46769947	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs375721879	chr2:46770155-46770156	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Myelofibrosis	22110671	CNVD
Hypotonia	17579669	CNVD
Hypotonia-Cystinuria syndrome	16385448	CNVD
Glioblastoma multiforme	17002787	CNVD
Cystinuria	17625506	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46768400-46771800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr2:46768600-46771200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:46768600-46771400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr2:46768600-46771400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:46768600-46771600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:46768800-46771000	Active TSS	Small Intestine	intestine
7	chr2:46768800-46771200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:46768800-46771200	Active TSS	Ovary	ovary
9	chr2:46768800-46771400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr2:46768800-46771400	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr2:46768800-46771400	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr2:46768800-46771400	Active TSS	Brain Angular Gyrus	brain
13	chr2:46768800-46771400	Active TSS	Colon Smooth Muscle	Colon
14	chr2:46768800-46771400	Active TSS	Fetal Kidney	kidney
15	chr2:46769000-46770400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:46769000-46770600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:46769000-46770600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:46769000-46770600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:46769000-46770600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:46769000-46770600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:46769000-46770600	Active TSS	Brain Germinal Matrix	brain
22	chr2:46769000-46770600	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr2:46769000-46770600	Active TSS	Fetal Brain Female	brain
24	chr2:46769000-46770600	Active TSS	Thymus	Thymus
25	chr2:46769000-46770600	Active TSS	NHEK	skin
26	chr2:46769000-46770800	Active TSS	H1 Cell Line	embryonic stem cell
27	chr2:46769000-46770800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:46769000-46770800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:46769000-46770800	Active TSS	Gastric	stomach
30	chr2:46769000-46770800	Active TSS	GM12878-XiMat	blood
31	chr2:46769000-46771000	Active TSS	Fetal Intestine Small	intestine
32	chr2:46769000-46771000	Active TSS	Lung	lung
33	chr2:46769000-46771000	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr2:46769000-46771000	Active TSS	Hela-S3	cervix
35	chr2:46769000-46771200	Active TSS	Psoas Muscle	Psoas
36	chr2:46769000-46771400	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr2:46769000-46771400	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr2:46769000-46771400	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr2:46769000-46771400	Active TSS	Primary T cells from cord blood	blood
40	chr2:46769000-46771400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:46769000-46771400	Active TSS	Brain Anterior Caudate	brain
42	chr2:46769000-46771400	Active TSS	Brain Hippocampus Middle	brain
43	chr2:46769000-46771400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr2:46769000-46771400	Active TSS	Fetal Lung	lung
45	chr2:46769000-46771400	Active TSS	Pancreas	Pancrea
46	chr2:46769000-46771400	Active TSS	Rectal Smooth Muscle	rectum
47	chr2:46769000-46771400	Active TSS	Osteobl	bone
48	chr2:46769000-46771600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:46769000-46771600	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr2:46769000-46771600	Active TSS	Right Atrium	heart

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