Variant report

Variant	esv18105
Chromosome Location	chr3:194991304-194991991
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:629)
CpG islands
(count:122)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:629 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:194991804-194992816	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:194991883-194991959	K562	blood:	n/a	n/a
3	ATF3	chr3:194991316-194991783	K562	blood:	n/a	n/a
4	BACH1	chr3:194991531-194991603	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr3:194991640-194992930	K562	blood:	n/a	chr3:194991896-194991909 chr3:194992411-194992420 chr3:194991873-194991886
6	BCL3	chr3:194991989-194992815	A549	lung:	n/a	chr3:194992411-194992420
7	BCLAF1	chr3:194991221-194992703	GM12878	blood:	n/a	chr3:194991896-194991909 chr3:194992411-194992420 chr3:194991873-194991886 chr3:194991263-194991276
8	BCLAF1	chr3:194991338-194991985	GM12878	blood:	n/a	chr3:194991896-194991909 chr3:194991873-194991886
9	BHLHE40	chr3:194991577-194993187	GM12878	blood:	n/a	chr3:194992401-194992417
10	BHLHE40	chr3:194991377-194992822	HepG2	liver:	n/a	chr3:194992401-194992417
11	BHLHE40	chr3:194991314-194992882	K562	blood:	n/a	chr3:194992401-194992417
12	BRCA1	chr3:194991798-194991802	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr3:194991686-194991875	HepG2	liver:	n/a	n/a
14	BRCA1	chr3:194991027-194991328	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr3:194991716-194991742	H1-hESC	embryonic stem cell:	n/a	n/a
16	CBX3	chr3:194990825-194992873	K562	blood:	n/a	n/a
17	CCNT2	chr3:194990575-194992714	K562	blood:	n/a	chr3:194991892-194991901
18	CEBPB	chr3:194991093-194991615	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr3:194991830-194991838	Hela-S3	cervix:	n/a	n/a
20	CEBPD	chr3:194991663-194992219	HepG2	liver:	n/a	n/a
21	CHD1	chr3:194991442-194991688	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD1	chr3:194990786-194993337	IMR90	lung:	n/a	n/a
23	CHD2	chr3:194991344-194992625	GM12878	blood:	n/a	n/a
24	CHD2	chr3:194991137-194992613	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr3:194991067-194992609	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr3:194991613-194991653	K562	blood:	n/a	n/a
27	CHD2	chr3:194991477-194991842	HepG2	liver:	n/a	n/a
28	CREB1	chr3:194991517-194992609	A549	lung:	n/a	n/a
29	CREB1	chr3:194991515-194992515	H1-hESC	embryonic stem cell:	n/a	n/a
30	CREB1	chr3:194990914-194992860	HepG2	liver:	n/a	n/a
31	CREB1	chr3:194991546-194992583	GM12878	blood:	n/a	n/a
32	CTBP2	chr3:194990961-194992090	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr3:194991260-194991410	HCT-116	colon:	n/a	n/a
34	CTCF	chr3:194991416-194991767	HepG2	liver:	n/a	n/a
35	CTCF	chr3:194991466-194991804	A549	lung:	n/a	n/a
36	CTCF	chr3:194991560-194991710	GM12869	blood:	n/a	n/a
37	CTCF	chr3:194991267-194991785	GM10266	blood:	n/a	n/a
38	CTCF	chr3:194991580-194991730	GM12878	blood:	n/a	n/a
39	CTCF	chr3:194991492-194991787	Gliobla	brain:	n/a	n/a
40	CTCF	chr3:194991240-194991390	HVMF	connective:	n/a	chr3:194991259-194991272
41	CTCF	chr3:194991510-194991761	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr3:194991317-194991322	GM12891	blood:	n/a	n/a
43	CTCF	chr3:194991580-194991730	WERI-Rb-1	eye:	n/a	n/a
44	CTCF	chr3:194990920-194992729	GM12878	blood:	n/a	chr3:194991259-194991272 chr3:194992400-194992409 chr3:194992397-194992415 chr3:194992400-194992413 chr3:194991904-194991917 chr3:194991871-194991884
45	CTCF	chr3:194991445-194991777	GM10248	blood:	n/a	n/a
46	CTCF	chr3:194991540-194991690	GM12868	blood:	n/a	n/a
47	CTCF	chr3:194991560-194991710	WERI-Rb-1	eye:	n/a	n/a
48	CTCF	chr3:194991560-194991710	GM12871	blood:	n/a	n/a
49	CTCF	chr3:194991958-194992831	MCF-7	breast:	n/a	chr3:194992400-194992409 chr3:194992397-194992415 chr3:194992400-194992413
50	CTCF	chr3:194991260-194991410	HRE	kidney:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:194991685-194991735	NHBE	bronchial:	n/a
2	chr3:194991500-194991550	NH-A	brain:	n/a
3	chr3:194991685-194991735	GM12892	blood:	n/a
4	chr3:194991685-194991735	SK-N-MC	brain:	n/a
5	chr3:194991685-194991735	HIPEpiC	eye:	n/a
6	chr3:194991500-194991550	AG09309	skin:	n/a
7	chr3:194991685-194991735	HepG2	liver:	n/a
8	chr3:194991685-194991735	A549	lung:	n/a
9	chr3:194991685-194991735	BJ	skin:	n/a
10	chr3:194991500-194991550	A549	lung:	n/a
11	chr3:194991685-194991735	GM06990	blood:	n/a
12	chr3:194991685-194991735	NB4	blood:	n/a
13	chr3:194991685-194991735	HEEpiC	esophagus:	n/a
14	chr3:194991685-194991735	PrEC	prostate:	n/a
15	chr3:194991685-194991735	HCM	heart:	n/a
16	chr3:194991685-194991735	NHDF-neo	bronchial:	n/a
17	chr3:194991500-194991550	NT2-D1	testis:	n/a
18	chr3:194991500-194991550	HL-60	blood:	n/a
19	chr3:194991685-194991735	H1-hESC	embryonic stem cell:	embryo
20	chr3:194991500-194991550	Jurkat	blood:	n/a
21	chr3:194991685-194991735	AoSMC	blood vessel:	n/a
22	chr3:194991685-194991735	Hepatocyte	liver:	n/a
23	chr3:194991500-194991550	HCT-116	colon:	n/a
24	chr3:194991685-194991735	MCF-7	breast:	n/a
25	chr3:194991685-194991735	AG09319	gingival:	n/a
26	chr3:194991685-194991735	HNPCEpiC	eye:	n/a
27	chr3:194991500-194991550	HAEpiC	amniotic membrane:	n/a
28	chr3:194991685-194991735	SKMC	muscle:	n/a
29	chr3:194991685-194991735	HRPEpiC	eye:	n/a
30	chr3:194991500-194991550	AG04450	lung:	fetal
31	chr3:194991685-194991735	NT2-D1	testis:	n/a
32	chr3:194991500-194991550	HepG2	liver:	n/a
33	chr3:194991500-194991550	HUVEC	blood vessel:	n/a
34	chr3:194991500-194991550	GM19239	blood:	n/a
35	chr3:194991500-194991550	SK-N-SH_RA	brain:	n/a
36	chr3:194991500-194991550	ovcar-3	ovarian:	n/a
37	chr3:194991500-194991550	GM12878	blood:	n/a
38	chr3:194991500-194991550	ProgFib	skin:	n/a
39	chr3:194991685-194991735	ovcar-3	ovarian:	n/a
40	chr3:194991685-194991735	GM12878	blood:	n/a
41	chr3:194991685-194991735	U87	brain:	n/a
42	chr3:194991685-194991735	HCF	heart:	n/a
43	chr3:194991685-194991735	HMEC	breast:	n/a
44	chr3:194991685-194991735	IMR90	lung:	fetal
45	chr3:194991685-194991735	AG04450	lung:	fetal
46	chr3:194991685-194991735	K562	blood:	n/a
47	chr3:194991500-194991550	SK-N-MC	brain:	n/a
48	chr3:194991500-194991550	SKMC	muscle:	n/a
49	chr3:194991500-194991550	Caco-2	colon:	n/a
50	chr3:194991500-194991550	HCM	heart:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:194989426..194991874-chr3:195268477..195270198,3	MCF-7	breast:
2	chr1:43855268..43855853-chr3:194991704..194992499,2	HCT-116	colon:
3	chr3:194990296..194992305-chr3:195248848..195251348,4	MCF-7	breast:
4	chr3:194989967..194994399-chr3:195244037..195248390,6	K562	blood:
5	chr3:194979343..194985907-chr3:194989595..194992143,7	K562	blood:
6	chr3:194989462..194991407-chr3:195163007..195164718,2	MCF-7	breast:
7	chr3:194991198..194994178-chr3:195162096..195163902,2	K562	blood:
8	chr3:194990164..194994201-chr3:195268703..195270348,3	K562	blood:
9	chr3:194991144..194993841-chr3:195162528..195164078,2	MCF-7	breast:
10	chr3:194990825..194992800-chr3:195162290..195164935,2	K562	blood:
11	chr3:194979343..194983092-chr3:194989595..194993137,5	K562	blood:
12	chr3:194990545..194994377-chr3:195246139..195250306,5	K562	blood:
13	chr3:194990005..194994037-chr3:194997788..195001012,5	K562	blood:
14	chr3:194990474..194992109-chr3:195269592..195271685,2	MCF-7	breast:

No data

Variant related genes	Relation type
XXYLT1	TF binding region
XXYLT1	CpG island
ENSG00000159479	chromatin interactions
ENSG00000198198	chromatin interactions
ENSG00000114331	chromatin interactions
ENSG00000223711	chromatin interactions
ENSG00000173950	chromatin interactions
ENSG00000184203	chromatin interactions
ENSG00000252620	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372983273	chr3:194991337-194991338	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs540548399	chr3:194991395-194991396	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs565205225	chr3:194991402-194991403	Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs74954858	chr3:194991404-194991405	Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs376126877	chr3:194991426-194991427	Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs369979304	chr3:194991556-194991557	Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs544508884	chr3:194991664-194991665	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs563097755	chr3:194991732-194991733	Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs530563578	chr3:194991826-194991827	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs549014150	chr3:194991880-194991881	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs560887209	chr3:194991943-194991944	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs1832666	chr3:194991971-194991972	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs189286345	chr3:194991981-194991982	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194990000-194991400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:194990000-194991400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:194990000-194991400	Flanking Active TSS	Dnd41	blood
4	chr3:194990000-194991600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr3:194990200-194991400	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr3:194990200-194991600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:194990400-194991400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr3:194990400-194991400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
9	chr3:194990400-194991400	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr3:194990400-194991400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr3:194990400-194991600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr3:194990400-194991600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:194990400-194991600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:194990400-194993000	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr3:194990600-194991400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
16	chr3:194990600-194991400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
17	chr3:194990600-194991400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
18	chr3:194990600-194991400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:194990600-194991400	Flanking Active TSS	Fetal Muscle Trunk	muscle
20	chr3:194990600-194991400	Flanking Active TSS	Fetal Muscle Leg	muscle
21	chr3:194990600-194991400	Flanking Active TSS	Fetal Thymus	thymus
22	chr3:194990600-194991400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr3:194990600-194991600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr3:194990600-194991600	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr3:194990600-194991600	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr3:194990600-194991600	Flanking Active TSS	Liver	Liver
27	chr3:194990600-194991600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr3:194990600-194992600	Active TSS	H9 Cell Line	embryonic stem cell
29	chr3:194990600-194992800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr3:194990600-194993000	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr3:194990600-194993000	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr3:194990600-194993000	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr3:194990600-194993200	Active TSS	A549	lung
34	chr3:194990800-194991400	Flanking Active TSS	Primary B cells from peripheral blood	blood
35	chr3:194990800-194991400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr3:194990800-194991400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr3:194990800-194991400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr3:194990800-194991400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr3:194990800-194991400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr3:194990800-194991400	Flanking Active TSS	Placenta	Placenta
41	chr3:194990800-194991600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr3:194990800-194991600	Flanking Active TSS	Colonic Mucosa	Colon
43	chr3:194990800-194991600	Flanking Active TSS	Right Ventricle	heart
44	chr3:194990800-194992600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:194990800-194992600	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr3:194990800-194992600	Active TSS	Fetal Kidney	kidney
47	chr3:194990800-194992600	Active TSS	NHDF-Ad	bronchial
48	chr3:194990800-194992600	Active TSS	NHLF	lung
49	chr3:194990800-194992800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr3:194990800-194992800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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