Variant report

Variant	rs566097906
Chromosome Location	chr15:78423771-78423772
allele	A/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	CTCF	chr15:78423646-78424000	GM19240	blood:	n/a	chr15:78423709-78423722
2	ELF1	chr15:78423615-78424179	K562	blood:	n/a	chr15:78424082-78424094 chr15:78423795-78423807 chr15:78423770-78423779 chr15:78423884-78423897
3	ELK4	chr15:78423683-78424047	HEK293	kidney:	n/a	chr15:78423887-78423898 chr15:78423888-78423897
4	POLR2A	chr15:78423712-78424220	HepG2	liver:	n/a	n/a
5	POLR2A	chr15:78423473-78424296	A549	lung:	n/a	n/a
6	BHLHE40	chr15:78423640-78424077	GM12878	blood:	n/a	chr15:78423807-78423823 chr15:78423792-78423808 chr15:78423657-78423673
7	MAX	chr15:78423624-78424503	ECC-1	luminal epithelium:	n/a	chr15:78423785-78423795
8	POLR2A	chr15:78423551-78424321	GM18951	blood:	n/a	n/a
9	RAD21	chr15:78423639-78423993	SK-N-SH_RA	brain:	n/a	chr15:78423842-78423855 chr15:78423708-78423722
10	RAD21	chr15:78423649-78424035	GM12878	blood:	n/a	chr15:78423842-78423855 chr15:78423708-78423722
11	ZBTB7A	chr15:78423508-78424392	ECC-1	luminal epithelium:	n/a	chr15:78423899-78423908 chr15:78424072-78424079
12	STAT1	chr15:78423669-78424045	GM12878	blood:	n/a	chr15:78423688-78423700
13	CTCFL	chr15:78423717-78423943	K562	blood:	n/a	n/a
14	CTCF	chr15:78423438-78424195	K562	blood:	n/a	chr15:78423709-78423722
15	CTCF	chr15:78423740-78423890	NHLF	lung:	n/a	n/a
16	UBTF	chr15:78423637-78424283	K562	blood:	n/a	n/a
17	CTCF	chr15:78423740-78423890	GM12875	blood:	n/a	n/a
18	FOXM1	chr15:78423711-78424049	GM12878	blood:	n/a	n/a
19	HDAC2	chr15:78423648-78424100	HepG2	liver:	n/a	n/a
20	CTCF	chr15:78423657-78423998	GM12891	blood:	n/a	chr15:78423709-78423722
21	SMARCB1	chr15:78423646-78424399	Hela-S3	cervix:	n/a	n/a
22	ZBTB7A	chr15:78423621-78424151	HepG2	liver:	n/a	chr15:78423899-78423908 chr15:78424072-78424079
23	POLR2A	chr15:78423623-78424149	HCT-116	colon:	n/a	n/a
24	CTCF	chr15:78423760-78423910	HRPEpiC	eye:	n/a	n/a
25	YY1	chr15:78423653-78424049	SK-N-SH_RA	brain:	n/a	chr15:78423788-78423802
26	POLR2A	chr15:78423466-78424316	A549	lung:	n/a	n/a
27	POLR2A	chr15:78423411-78424315	GM18526	blood:	n/a	n/a
28	CTCF	chr15:78423701-78423939	ProgFib	skin:	n/a	chr15:78423709-78423722
29	RAD21	chr15:78423673-78424018	Hela-S3	cervix:	n/a	chr15:78423842-78423855 chr15:78423708-78423722
30	MAX	chr15:78423653-78424472	MCF-7	breast:	n/a	chr15:78423785-78423795
31	YY1	chr15:78423460-78423989	H1-hESC	embryonic stem cell:	n/a	chr15:78423788-78423802 chr15:78423529-78423546 chr15:78423647-78423658 chr15:78423624-78423638
32	TBL1XR1	chr15:78423688-78424045	GM12878	blood:	n/a	n/a
33	REST	chr15:78423743-78424200	PFSK-1	brain:	n/a	chr15:78423794-78423807 chr15:78424021-78424034 chr15:78423812-78423825
34	RAD21	chr15:78423662-78424012	HepG2	liver:	n/a	chr15:78423842-78423855 chr15:78423708-78423722
35	CTCF	chr15:78423683-78423983	NHEK	skin:	n/a	chr15:78423709-78423722
36	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
37	ZNF143	chr15:78423622-78424108	GM12878	blood:	n/a	chr15:78423769-78423779 chr15:78423625-78423635
38	RAD21	chr15:78423569-78424411	HCT-116	colon:	n/a	chr15:78423842-78423855 chr15:78423708-78423722
39	POLR2A	chr15:78423506-78424442	H1-neurons	neurons:	n/a	n/a
40	CTCF	chr15:78423728-78423964	Kidney_OC	kidney:	n/a	n/a
41	CTCF	chr15:78423760-78423910	HVMF	connective:	n/a	n/a
42	CTCF	chr15:78423659-78423981	GM12878	blood:	n/a	chr15:78423709-78423722
43	CTCF	chr15:78423593-78424075	A549	lung:	n/a	chr15:78423709-78423722
44	CTCF	chr15:78423630-78424014	GM19238	blood:	n/a	chr15:78423709-78423722
45	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
46	CTCF	chr15:78423740-78423890	NB4	blood:	n/a	n/a
47	CTCF	chr15:78423760-78423910	AG09309	skin:	n/a	n/a
48	POLR2A	chr15:78423596-78424307	PANC-1	pancreas:	n/a	n/a
49	POLR2A	chr15:78423592-78424359	GM19193	blood:	n/a	n/a
50	GABPA	chr15:78423708-78424114	HepG2	liver:	n/a	chr15:78423719-78423728 chr15:78423904-78423913

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:78423758-78423808	PFSK-1	brain:	n/a
2	chr15:78423758-78423808	HCPEpiC	choroid plexus:	n/a
3	chr15:78423758-78423808	AG09309	skin:	n/a
4	chr15:78423758-78423808	GM12892	blood:	n/a
5	chr15:78423758-78423808	HMEC	breast:	n/a
6	chr15:78423758-78423808	Hela-S3	cervix:	n/a
7	chr15:78423758-78423808	NH-A	brain:	n/a
8	chr15:78423758-78423808	SK-N-MC	brain:	n/a
9	chr15:78423758-78423808	SKMC	muscle:	n/a
10	chr15:78423758-78423808	NHDF-neo	bronchial:	n/a
11	chr15:78423758-78423808	BJ	skin:	n/a
12	chr15:78423758-78423808	PrEC	prostate:	n/a
13	chr15:78423758-78423808	T-47D	breast:	n/a
14	chr15:78423758-78423808	CMK	blood:	n/a
15	chr15:78423758-78423808	H1-hESC	embryonic stem cell:	embryo
16	chr15:78423758-78423808	A549	lung:	n/a
17	chr15:78423758-78423808	AG10803	skin:	n/a
18	chr15:78423758-78423808	HCF	heart:	n/a
19	chr15:78423758-78423808	GM12878	blood:	n/a
20	chr15:78423758-78423808	SK-N-SH_RA	brain:	n/a
21	chr15:78423758-78423808	HL-60	blood:	n/a
22	chr15:78423758-78423808	AoSMC	blood vessel:	n/a
23	chr15:78423758-78423808	GM12891	blood:	n/a
24	chr15:78423758-78423808	SK-N-SH	brain:	n/a
25	chr15:78423758-78423808	K562	blood:	n/a
26	chr15:78423758-78423808	HIPEpiC	eye:	n/a
27	chr15:78423758-78423808	AG04450	lung:	fetal
28	chr15:78423758-78423808	HAEpiC	amniotic membrane:	n/a
29	chr15:78423758-78423808	NB4	blood:	n/a
30	chr15:78423758-78423808	ProgFib	skin:	n/a
31	chr15:78423758-78423808	HEEpiC	esophagus:	n/a
32	chr15:78423758-78423808	HNPCEpiC	eye:	n/a
33	chr15:78423758-78423808	AG04449	skin:	fetal
34	chr15:78423758-78423808	HRPEpiC	eye:	n/a
35	chr15:78423758-78423808	ECC-1	luminal epithelium:	n/a
36	chr15:78423758-78423808	MCF-7	breast:	n/a
37	chr15:78423758-78423808	Hepatocyte	liver:	n/a
38	chr15:78423758-78423808	ovcar-3	ovarian:	n/a
39	chr15:78423758-78423808	HCT-116	colon:	n/a
40	chr15:78423758-78423808	MCF10A-Er-Src	breast:	n/a
41	chr15:78423758-78423808	HRCEpiC	kidney:	n/a
42	chr15:78423758-78423808	Jurkat	blood:	n/a
43	chr15:78423758-78423808	HUVEC	blood vessel:	n/a
44	chr15:78423758-78423808	Caco-2	colon:	n/a
45	chr15:78423758-78423808	RPTEC	kidney:	n/a
46	chr15:78423758-78423808	GM06990	blood:	n/a
47	chr15:78423758-78423808	U87	brain:	n/a
48	chr15:78423758-78423808	HRE	kidney:	n/a
49	chr15:78423758-78423808	AG09319	gingival:	n/a
50	chr15:78423758-78423808	NHBE	bronchial:	n/a

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	chr15:78422464..78425441-chr3:23985742..23987944,2	MCF-7	breast:
7	chr15:78422439..78424007-chr15:78432504..78434738,2	MCF-7	breast:
8	chr15:78422015..78425228-chr15:78439030..78443289,7	K562	blood:

Variant related genes	Relation type
IDH3A	TF binding region
CIB2	TF binding region
IDH3A	CpG island
CIB2	CpG island
ENSG00000166411	Chromatin interaction
ENSG00000174738	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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78396600-78423800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr15:78422000-78424000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:78422200-78424800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:78422600-78424200	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr15:78422800-78424400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr15:78422800-78424400	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr15:78422800-78424800	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr15:78423000-78423800	Enhancers	Stomach Mucosa	stomach
9	chr15:78423000-78424000	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr15:78423000-78424000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr15:78423000-78424000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr15:78423000-78424200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr15:78423000-78424200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr15:78423000-78424200	Active TSS	Brain Cingulate Gyrus	brain
15	chr15:78423000-78424400	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr15:78423000-78424400	Active TSS	Colon Smooth Muscle	Colon
17	chr15:78423000-78424400	Active TSS	Fetal Stomach	stomach
18	chr15:78423000-78424600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr15:78423000-78424800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr15:78423000-78424800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:78423000-78425000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr15:78423200-78423800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
23	chr15:78423200-78423800	Enhancers	Primary T cells fromperipheralblood	blood
24	chr15:78423200-78423800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr15:78423200-78423800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr15:78423200-78423800	Active TSS	HMEC	breast
27	chr15:78423200-78424000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr15:78423200-78424000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:78423200-78424000	Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr15:78423200-78424000	Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr15:78423200-78424000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:78423200-78424000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:78423200-78424000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr15:78423200-78424000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr15:78423200-78424000	Active TSS	Brain Hippocampus Middle	brain
36	chr15:78423200-78424000	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr15:78423200-78424000	Weak transcription	Fetal Heart	heart
38	chr15:78423200-78424000	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr15:78423200-78424000	Active TSS	GM12878-XiMat	blood
40	chr15:78423200-78424200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr15:78423200-78424200	Active TSS	Brain Angular Gyrus	brain
42	chr15:78423200-78424200	Active TSS	Brain Anterior Caudate	brain
43	chr15:78423200-78424200	Active TSS	Duodenum Mucosa	Duodenum
44	chr15:78423200-78424200	Weak transcription	Fetal Brain Male	brain
45	chr15:78423200-78424200	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr15:78423200-78424200	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr15:78423200-78424200	Active TSS	HepG2	liver
48	chr15:78423200-78424200	Active TSS	K562	blood
49	chr15:78423200-78424400	Active TSS	Fetal Intestine Large	intestine
50	chr15:78423200-78424400	Active TSS	Pancreatic Islets	Pancreatic Islet

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