Variant report

Variant	rs565204868
Chromosome Location	chr3:23848418-23848419
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr3:23848025-23849455	IMR90	lung:	n/a	n/a
2	FOXA2	chr3:23848400-23848836	HepG2	liver:	n/a	n/a
3	POLR2A	chr3:23848024-23848965	HL-60	blood:	n/a	n/a
4	ELF1	chr3:23847845-23848829	GM12878	blood:	n/a	chr3:23847923-23847935
5	FOXA1	chr3:23848397-23848796	HepG2	liver:	n/a	n/a
6	ZBTB7A	chr3:23846976-23848886	ECC-1	luminal epithelium:	n/a	chr3:23847207-23847216
7	ZBTB7A	chr3:23848154-23848827	HepG2	liver:	n/a	n/a
8	POLR2A	chr3:23848153-23848978	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr3:23848416-23848854	H1-hESC	embryonic stem cell:	n/a	chr3:23848624-23848633 chr3:23848482-23848492
10	ZBTB7A	chr3:23846979-23848956	K562	blood:	n/a	chr3:23847207-23847216
11	MAZ	chr3:23848074-23848622	Hela-S3	cervix:	n/a	chr3:23848482-23848492
12	SMARCB1	chr3:23847167-23848809	Hela-S3	cervix:	n/a	n/a
13	JUND	chr3:23848208-23848885	K562	blood:	n/a	n/a
14	MYC	chr3:23847981-23849076	K562	blood:	n/a	chr3:23848624-23848633 chr3:23848482-23848492
15	FOXA1	chr3:23848377-23848893	HepG2	liver:	n/a	n/a
16	FOXA1	chr3:23848258-23848934	HepG2	liver:	n/a	n/a
17	FOXA2	chr3:23848256-23848977	A549	lung:	n/a	n/a
18	RUNX3	chr3:23848410-23849248	GM12878	blood:	n/a	n/a
19	POLR2A	chr3:23848363-23849052	GM12878	blood:	n/a	n/a
20	E2F6	chr3:23847995-23848717	K562	blood:	n/a	n/a
21	POLR2A	chr3:23847113-23849021	H1-hESC	embryonic stem cell:	n/a	n/a
22	JUND	chr3:23848390-23848618	H1-hESC	embryonic stem cell:	n/a	n/a
23	MYC	chr3:23848136-23849051	NB4	blood:	n/a	chr3:23848624-23848633 chr3:23848482-23848492
24	MAX	chr3:23848151-23848944	HepG2	liver:	n/a	chr3:23848624-23848633 chr3:23848482-23848492
25	MAX	chr3:23848409-23848825	K562	blood:	n/a	chr3:23848624-23848633 chr3:23848482-23848492
26	FOXA2	chr3:23848205-23848969	A549	lung:	n/a	n/a
27	POLR2A	chr3:23847230-23848839	GM12892	blood:	n/a	n/a
28	CCNT2	chr3:23847378-23848866	K562	blood:	n/a	chr3:23847925-23847934
29	YY1	chr3:23848319-23848793	HepG2	liver:	n/a	n/a
30	POLR2A	chr3:23847284-23848865	GM19193	blood:	n/a	n/a
31	MTA3	chr3:23848250-23849233	GM12878	blood:	n/a	n/a
32	POLR2A	chr3:23847240-23848696	K562	blood:	n/a	n/a
33	SIN3A	chr3:23848199-23849034	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr3:23848340-23848490	GM12871	blood:	n/a	n/a
35	MAX	chr3:23848292-23848976	A549	lung:	n/a	chr3:23848624-23848633 chr3:23848482-23848492
36	ZBTB7A	chr3:23846913-23848985	ECC-1	luminal epithelium:	n/a	chr3:23847207-23847216
37	MAX	chr3:23847927-23849019	K562	blood:	n/a	chr3:23848624-23848633 chr3:23848482-23848492
38	POLR2A	chr3:23847906-23849037	K562	blood:	n/a	n/a
39	POLR2A	chr3:23847036-23848947	K562	blood:	n/a	n/a
40	HMGN3	chr3:23848047-23848558	K562	blood:	n/a	n/a
41	MAX	chr3:23848079-23848878	H1-hESC	embryonic stem cell:	n/a	chr3:23848624-23848633 chr3:23848482-23848492
42	CHD2	chr3:23847141-23848459	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr3:23847985-23848511	H1-hESC	embryonic stem cell:	n/a	n/a
44	TAF1	chr3:23848379-23848702	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr3:23848177-23848785	GM12878	blood:	n/a	n/a
46	MAZ	chr3:23847046-23849182	IMR90	lung:	n/a	chr3:23848624-23848633 chr3:23848482-23848492 chr3:23847810-23847820
47	UBTF	chr3:23848034-23849050	K562	blood:	n/a	n/a
48	ZNF143	chr3:23848255-23849114	GM12878	blood:	n/a	n/a
49	ZBTB7A	chr3:23848186-23848746	HepG2	liver:	n/a	n/a
50	POLR2A	chr3:23847275-23849059	GM15510	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:23846193..23848940-chr3:24535065..24537255,2	K562	blood:
2	chr3:23846380..23850116-chr3:23956700..23960461,6	MCF-7	breast:
3	chr3:23845112..23848622-chr3:23958029..23961906,4	K562	blood:

Variant related genes	Relation type
UBE2E1	TF binding region
UBE2E1-AS1	TF binding region
ENSG00000151090	Chromatin interaction
ENSG00000174748	Chromatin interaction
ENSG00000197885	Chromatin interaction
ENSG00000228791	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv834637	chr3:23703928-23886144	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3378886	chr3:23846373-23849821	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23846800-23848600	Active TSS	Fetal Stomach	stomach
2	chr3:23846800-23848600	Active TSS	NH-A	brain
3	chr3:23846800-23848800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:23846800-23848800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:23846800-23848800	Active TSS	Primary T cells from cord blood	blood
6	chr3:23846800-23848800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:23846800-23848800	Active TSS	Adipose Nuclei	Adipose
8	chr3:23846800-23848800	Active TSS	Brain Anterior Caudate	brain
9	chr3:23846800-23848800	Active TSS	Fetal Brain Female	brain
10	chr3:23846800-23848800	Active TSS	HSMMtube	muscle
11	chr3:23846800-23848800	Active TSS	HUVEC	blood vessel
12	chr3:23846800-23849000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:23846800-23849000	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr3:23846800-23849000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr3:23846800-23849000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:23846800-23849000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:23846800-23849000	Active TSS	Muscle Satellite Cultured Cells	--
18	chr3:23846800-23849000	Active TSS	Brain Hippocampus Middle	brain
19	chr3:23846800-23849000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr3:23846800-23849000	Active TSS	Colonic Mucosa	Colon
21	chr3:23846800-23849000	Active TSS	Stomach Smooth Muscle	stomach
22	chr3:23846800-23849000	Active TSS	NHLF	lung
23	chr3:23846800-23849200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:23846800-23849200	Active TSS	H9 Cell Line	embryonic stem cell
25	chr3:23846800-23849200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr3:23846800-23849200	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr3:23846800-23849200	Active TSS	Aorta	Aorta
28	chr3:23846800-23849200	Active TSS	Brain Angular Gyrus	brain
29	chr3:23846800-23849200	Active TSS	Brain Cingulate Gyrus	brain
30	chr3:23846800-23849200	Active TSS	Colon Smooth Muscle	Colon
31	chr3:23846800-23849200	Active TSS	Fetal Muscle Trunk	muscle
32	chr3:23846800-23849200	Active TSS	Left Ventricle	heart
33	chr3:23846800-23849200	Active TSS	Psoas Muscle	Psoas
34	chr3:23846800-23849200	Active TSS	Right Ventricle	heart
35	chr3:23846800-23849400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr3:23846800-23849400	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr3:23846800-23849400	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr3:23847000-23848600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr3:23847000-23848600	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr3:23847000-23848600	Active TSS	Placenta	Placenta
41	chr3:23847000-23848800	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr3:23847000-23848800	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr3:23847000-23848800	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr3:23847000-23848800	Active TSS	HSMM	muscle
45	chr3:23847000-23849000	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr3:23847000-23849000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr3:23847000-23849000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:23847000-23849000	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr3:23847000-23849000	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr3:23847000-23849000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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