Variant report

Variant	rs559331816
Chromosome Location	chr15:78423832-78423833
allele	C/T
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	CTCF	chr15:78423646-78424000	GM19240	blood:	n/a	chr15:78423709-78423722
2	CTCF	chr15:78423780-78423930	SAEC	small airway:	n/a	n/a
3	ELF1	chr15:78423615-78424179	K562	blood:	n/a	chr15:78424082-78424094 chr15:78423795-78423807 chr15:78423770-78423779 chr15:78423884-78423897
4	ELK4	chr15:78423683-78424047	HEK293	kidney:	n/a	chr15:78423887-78423898 chr15:78423888-78423897
5	POLR2A	chr15:78423712-78424220	HepG2	liver:	n/a	n/a
6	POLR2A	chr15:78423473-78424296	A549	lung:	n/a	n/a
7	BHLHE40	chr15:78423640-78424077	GM12878	blood:	n/a	chr15:78423807-78423823 chr15:78423792-78423808 chr15:78423657-78423673
8	MAX	chr15:78423624-78424503	ECC-1	luminal epithelium:	n/a	chr15:78423785-78423795
9	POLR2A	chr15:78423551-78424321	GM18951	blood:	n/a	n/a
10	RAD21	chr15:78423639-78423993	SK-N-SH_RA	brain:	n/a	chr15:78423842-78423855 chr15:78423708-78423722
11	RAD21	chr15:78423649-78424035	GM12878	blood:	n/a	chr15:78423842-78423855 chr15:78423708-78423722
12	ZBTB7A	chr15:78423508-78424392	ECC-1	luminal epithelium:	n/a	chr15:78423899-78423908 chr15:78424072-78424079
13	STAT1	chr15:78423669-78424045	GM12878	blood:	n/a	chr15:78423688-78423700
14	CTCFL	chr15:78423717-78423943	K562	blood:	n/a	n/a
15	CEBPB	chr15:78423775-78423975	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr15:78423438-78424195	K562	blood:	n/a	chr15:78423709-78423722
17	CTCF	chr15:78423780-78423930	AG09309	skin:	n/a	n/a
18	CTCF	chr15:78423740-78423890	NHLF	lung:	n/a	n/a
19	UBTF	chr15:78423637-78424283	K562	blood:	n/a	n/a
20	CTCF	chr15:78423740-78423890	GM12875	blood:	n/a	n/a
21	FOXM1	chr15:78423711-78424049	GM12878	blood:	n/a	n/a
22	HDAC2	chr15:78423648-78424100	HepG2	liver:	n/a	n/a
23	CTCF	chr15:78423657-78423998	GM12891	blood:	n/a	chr15:78423709-78423722
24	SMARCB1	chr15:78423646-78424399	Hela-S3	cervix:	n/a	n/a
25	ZBTB7A	chr15:78423621-78424151	HepG2	liver:	n/a	chr15:78423899-78423908 chr15:78424072-78424079
26	POLR2A	chr15:78423623-78424149	HCT-116	colon:	n/a	n/a
27	CTCF	chr15:78423760-78423910	HRPEpiC	eye:	n/a	n/a
28	CTCF	chr15:78423820-78423970	RPTEC	kidney:	n/a	n/a
29	YY1	chr15:78423653-78424049	SK-N-SH_RA	brain:	n/a	chr15:78423788-78423802
30	POLR2A	chr15:78423466-78424316	A549	lung:	n/a	n/a
31	POLR2A	chr15:78423411-78424315	GM18526	blood:	n/a	n/a
32	CTCF	chr15:78423701-78423939	ProgFib	skin:	n/a	chr15:78423709-78423722
33	RAD21	chr15:78423673-78424018	Hela-S3	cervix:	n/a	chr15:78423842-78423855 chr15:78423708-78423722
34	MAX	chr15:78423653-78424472	MCF-7	breast:	n/a	chr15:78423785-78423795
35	YY1	chr15:78423460-78423989	H1-hESC	embryonic stem cell:	n/a	chr15:78423788-78423802 chr15:78423529-78423546 chr15:78423647-78423658 chr15:78423624-78423638
36	TBL1XR1	chr15:78423688-78424045	GM12878	blood:	n/a	n/a
37	REST	chr15:78423743-78424200	PFSK-1	brain:	n/a	chr15:78423794-78423807 chr15:78424021-78424034 chr15:78423812-78423825
38	RAD21	chr15:78423662-78424012	HepG2	liver:	n/a	chr15:78423842-78423855 chr15:78423708-78423722
39	CTCF	chr15:78423683-78423983	NHEK	skin:	n/a	chr15:78423709-78423722
40	EGR1	chr15:78423689-78424224	K562	blood:	n/a	chr15:78424085-78424098 chr15:78424088-78424098 chr15:78424088-78424097 chr15:78423888-78423897 chr15:78424085-78424098 chr15:78424085-78424098
41	CTCF	chr15:78423780-78423930	AG10803	skin:	n/a	n/a
42	ZNF143	chr15:78423622-78424108	GM12878	blood:	n/a	chr15:78423769-78423779 chr15:78423625-78423635
43	RAD21	chr15:78423569-78424411	HCT-116	colon:	n/a	chr15:78423842-78423855 chr15:78423708-78423722
44	POLR2A	chr15:78423506-78424442	H1-neurons	neurons:	n/a	n/a
45	CTCF	chr15:78423728-78423964	Kidney_OC	kidney:	n/a	n/a
46	CTCF	chr15:78423760-78423910	HVMF	connective:	n/a	n/a
47	CTCF	chr15:78423659-78423981	GM12878	blood:	n/a	chr15:78423709-78423722
48	CTCF	chr15:78423593-78424075	A549	lung:	n/a	chr15:78423709-78423722
49	CTCF	chr15:78423630-78424014	GM19238	blood:	n/a	chr15:78423709-78423722
50	E2F6	chr15:78423457-78424202	K562	blood:	n/a	chr15:78424088-78424098 chr15:78424024-78424034 chr15:78423919-78423928 chr15:78423774-78423786 chr15:78423689-78423701 chr15:78423900-78423909 chr15:78423734-78423743

No.	Distal block	Cell Line	Cell type
1	chr15:78421965..78424193-chr15:78465887..78467751,2	K562	blood:
2	chr15:78423050..78427605-chr15:78432495..78437286,5	K562	blood:
3	chr15:78422180..78427678-chr15:78438636..78444300,13	MCF-7	breast:
4	chr15:78421103..78425437-chr15:78438436..78443517,9	MCF-7	breast:
5	chr15:78422233..78425731-chr15:78438987..78443227,7	K562	blood:
6	chr15:78423820..78425369-chr15:78574288..78576188,2	K562	blood:
7	chr15:78422464..78425441-chr3:23985742..23987944,2	MCF-7	breast:
8	chr15:78422439..78424007-chr15:78432504..78434738,2	MCF-7	breast:
9	chr15:78422015..78425228-chr15:78439030..78443289,7	K562	blood:

Variant related genes	Relation type
IDH3A	TF binding region
CIB2	TF binding region
ENSG00000174738	Chromatin interaction
ENSG00000166411	Chromatin interaction
ENSG00000272418	Chromatin interaction
ENSG00000260988	Chromatin interaction
ENSG00000103740	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	esv3352352	chr15:78422697-78424795	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78422000-78424000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:78422200-78424800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:78422600-78424200	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr15:78422800-78424400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr15:78422800-78424400	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr15:78422800-78424800	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr15:78423000-78424000	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr15:78423000-78424000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr15:78423000-78424000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr15:78423000-78424200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr15:78423000-78424200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr15:78423000-78424200	Active TSS	Brain Cingulate Gyrus	brain
13	chr15:78423000-78424400	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr15:78423000-78424400	Active TSS	Colon Smooth Muscle	Colon
15	chr15:78423000-78424400	Active TSS	Fetal Stomach	stomach
16	chr15:78423000-78424600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr15:78423000-78424800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr15:78423000-78424800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:78423000-78425000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr15:78423200-78424000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr15:78423200-78424000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr15:78423200-78424000	Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr15:78423200-78424000	Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr15:78423200-78424000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr15:78423200-78424000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr15:78423200-78424000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr15:78423200-78424000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr15:78423200-78424000	Active TSS	Brain Hippocampus Middle	brain
29	chr15:78423200-78424000	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr15:78423200-78424000	Weak transcription	Fetal Heart	heart
31	chr15:78423200-78424000	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr15:78423200-78424000	Active TSS	GM12878-XiMat	blood
33	chr15:78423200-78424200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr15:78423200-78424200	Active TSS	Brain Angular Gyrus	brain
35	chr15:78423200-78424200	Active TSS	Brain Anterior Caudate	brain
36	chr15:78423200-78424200	Active TSS	Duodenum Mucosa	Duodenum
37	chr15:78423200-78424200	Weak transcription	Fetal Brain Male	brain
38	chr15:78423200-78424200	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr15:78423200-78424200	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr15:78423200-78424200	Active TSS	HepG2	liver
41	chr15:78423200-78424200	Active TSS	K562	blood
42	chr15:78423200-78424400	Active TSS	Fetal Intestine Large	intestine
43	chr15:78423200-78424400	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr15:78423200-78424600	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr15:78423200-78424600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr15:78423200-78424600	Active TSS	Right Ventricle	heart
47	chr15:78423200-78424800	Active TSS	Thymus	Thymus
48	chr15:78423400-78424000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr15:78423400-78424000	Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr15:78423400-78424000	Active TSS	Primary B cells from peripheral blood	blood

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