Variant report

Variant	rs11547207
Chromosome Location	chr15:78423596-78423597
allele	G/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	POLR2A	chr15:78423473-78424296	A549	lung:	n/a	n/a
2	POLR2A	chr15:78423453-78423608	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr15:78423551-78424321	GM18951	blood:	n/a	n/a
4	ZBTB7A	chr15:78423508-78424392	ECC-1	luminal epithelium:	n/a	chr15:78423899-78423908 chr15:78424072-78424079
5	CTCF	chr15:78423438-78424195	K562	blood:	n/a	chr15:78423709-78423722
6	POLR2A	chr15:78423466-78424316	A549	lung:	n/a	n/a
7	POLR2A	chr15:78423411-78424315	GM18526	blood:	n/a	n/a
8	YY1	chr15:78423460-78423989	H1-hESC	embryonic stem cell:	n/a	chr15:78423788-78423802 chr15:78423529-78423546 chr15:78423647-78423658 chr15:78423624-78423638
9	RAD21	chr15:78423569-78424411	HCT-116	colon:	n/a	chr15:78423842-78423855 chr15:78423708-78423722
10	POLR2A	chr15:78423506-78424442	H1-neurons	neurons:	n/a	n/a
11	CTCF	chr15:78423593-78424075	A549	lung:	n/a	chr15:78423709-78423722
12	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
13	POLR2A	chr15:78423596-78424307	PANC-1	pancreas:	n/a	n/a
14	POLR2A	chr15:78423592-78424359	GM19193	blood:	n/a	n/a
15	ETS1	chr15:78423453-78424177	K562	blood:	n/a	chr15:78423767-78423778 chr15:78423889-78423899 chr15:78423888-78423897 chr15:78423888-78423897 chr15:78423884-78423900 chr15:78423888-78423897 chr15:78423888-78423897 chr15:78423888-78423899 chr15:78424085-78424096 chr15:78423885-78423898 chr15:78423888-78423897
16	TBP	chr15:78423469-78424424	K562	blood:	n/a	n/a
17	RAD21	chr15:78423579-78424091	SK-N-SH_RA	brain:	n/a	chr15:78423842-78423855 chr15:78423708-78423722
18	POLR2A	chr15:78423480-78424382	GM12892	blood:	n/a	n/a
19	ZBTB7A	chr15:78423318-78424352	K562	blood:	n/a	chr15:78423899-78423908 chr15:78424072-78424079
20	YY1	chr15:78423438-78424166	K562	blood:	n/a	chr15:78423788-78423802 chr15:78424087-78424096 chr15:78423529-78423546 chr15:78423647-78423658 chr15:78423624-78423638 chr15:78424085-78424096
21	POLR2A	chr15:78423492-78424434	GM15510	blood:	n/a	n/a
22	ELF1	chr15:78423505-78424151	K562	blood:	n/a	chr15:78424082-78424094 chr15:78423795-78423807 chr15:78423770-78423779 chr15:78423884-78423897
23	EP300	chr15:78423461-78424287	SK-N-SH	brain:	n/a	chr15:78423656-78423672 chr15:78423952-78423968 chr15:78423770-78423779 chr15:78423797-78423813 chr15:78423889-78423896 chr15:78423626-78423642 chr15:78423670-78423686
24	YY1	chr15:78423485-78424041	K562	blood:	n/a	chr15:78423788-78423802 chr15:78423529-78423546 chr15:78423647-78423658 chr15:78423624-78423638
25	SIN3AK20	chr15:78423419-78424174	PANC-1	pancreas:	n/a	n/a
26	MAX	chr15:78423156-78424411	K562	blood:	n/a	chr15:78423785-78423795
27	POLR2A	chr15:78423460-78423759	H1-hESC	embryonic stem cell:	n/a	n/a
28	FOXP2	chr15:78423522-78424302	PFSK-1	brain:	n/a	n/a
29	CTCF	chr15:78423494-78423953	H1-hESC	embryonic stem cell:	n/a	chr15:78423709-78423722
30	POLR2A	chr15:78423493-78424285	A549	lung:	n/a	n/a
31	EBF1	chr15:78423550-78423895	GM12878	blood:	n/a	n/a
32	PAX5	chr15:78423443-78424299	GM12892	blood:	n/a	n/a
33	ELF1	chr15:78423469-78424345	GM12878	blood:	n/a	chr15:78424082-78424094 chr15:78423795-78423807 chr15:78423770-78423779 chr15:78423884-78423897
34	CTCF	chr15:78423507-78424041	K562	blood:	n/a	chr15:78423709-78423722
35	YY1	chr15:78423492-78424226	HepG2	liver:	n/a	chr15:78423788-78423802 chr15:78424087-78424096 chr15:78423529-78423546 chr15:78423647-78423658 chr15:78423624-78423638 chr15:78424085-78424096
36	RAD21	chr15:78423576-78424047	H1-hESC	embryonic stem cell:	n/a	chr15:78423842-78423855 chr15:78423708-78423722
37	CTCF	chr15:78423583-78424010	HepG2	liver:	n/a	chr15:78423709-78423722
38	MAZ	chr15:78423051-78424422	K562	blood:	n/a	chr15:78423785-78423795
39	CTCF	chr15:78423596-78423944	A549	lung:	n/a	chr15:78423709-78423722
40	UBTF	chr15:78422792-78424443	K562	blood:	n/a	n/a
41	MAX	chr15:78423147-78424605	A549	lung:	n/a	chr15:78423785-78423795
42	POLR2A	chr15:78423508-78424153	HCT-116	colon:	n/a	n/a
43	MAZ	chr15:78423423-78424443	GM12878	blood:	n/a	chr15:78423785-78423795
44	POLR2A	chr15:78423584-78424220	ECC-1	luminal epithelium:	n/a	n/a
45	YY1	chr15:78423356-78424033	GM12878	blood:	n/a	chr15:78423788-78423802 chr15:78423529-78423546 chr15:78423647-78423658 chr15:78423624-78423638
46	GTF3C2	chr15:78423071-78424022	K562	blood:	n/a	n/a
47	ELF1	chr15:78423409-78424205	GM12878	blood:	n/a	chr15:78424082-78424094 chr15:78423795-78423807 chr15:78423770-78423779 chr15:78423884-78423897
48	POLR2A	chr15:78423362-78424393	K562	blood:	n/a	n/a
49	HCFC1	chr15:78423585-78424499	K562	blood:	n/a	n/a
50	TCF3	chr15:78423591-78424030	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:78423564-78423614	GM12892	blood:	n/a
2	chr15:78423564-78423614	SK-N-SH_RA	brain:	n/a
3	chr15:78423564-78423614	ECC-1	luminal epithelium:	n/a
4	chr15:78423564-78423614	HRCEpiC	kidney:	n/a
5	chr15:78423564-78423614	HepG2	liver:	n/a
6	chr15:78423564-78423614	HRPEpiC	eye:	n/a
7	chr15:78423564-78423614	SK-N-MC	brain:	n/a
8	chr15:78423564-78423614	A549	lung:	n/a
9	chr15:78423564-78423614	IMR90	lung:	fetal
10	chr15:78423564-78423614	H1-hESC	embryonic stem cell:	embryo
11	chr15:78423564-78423614	HIPEpiC	eye:	n/a
12	chr15:78423564-78423614	T-47D	breast:	n/a
13	chr15:78423564-78423614	PFSK-1	brain:	n/a
14	chr15:78423564-78423614	AG10803	skin:	n/a
15	chr15:78423564-78423614	AG04450	lung:	fetal
16	chr15:78423564-78423614	HUVEC	blood vessel:	n/a
17	chr15:78423564-78423614	SAEC	small airway:	n/a
18	chr15:78423564-78423614	BE2_C	brain:	n/a
19	chr15:78423564-78423614	Hepatocyte	liver:	n/a
20	chr15:78423564-78423614	ProgFib	skin:	n/a
21	chr15:78423564-78423614	HRE	kidney:	n/a
22	chr15:78423564-78423614	PrEC	prostate:	n/a
23	chr15:78423564-78423614	HEEpiC	esophagus:	n/a
24	chr15:78423564-78423614	NT2-D1	testis:	n/a
25	chr15:78423564-78423614	MCF-7	breast:	n/a
26	chr15:78423564-78423614	CMK	blood:	n/a
27	chr15:78423564-78423614	HCT-116	colon:	n/a
28	chr15:78423564-78423614	AG09309	skin:	n/a
29	chr15:78423564-78423614	GM19239	blood:	n/a
30	chr15:78423564-78423614	HCM	heart:	n/a
31	chr15:78423564-78423614	SK-N-SH	brain:	n/a
32	chr15:78423564-78423614	GM12878	blood:	n/a
33	chr15:78423564-78423614	HNPCEpiC	eye:	n/a
34	chr15:78423564-78423614	MCF10A-Er-Src	breast:	n/a
35	chr15:78423564-78423614	SKMC	muscle:	n/a
36	chr15:78423564-78423614	NB4	blood:	n/a
37	chr15:78423564-78423614	RPTEC	kidney:	n/a
38	chr15:78423564-78423614	AG09319	gingival:	n/a
39	chr15:78423564-78423614	GM06990	blood:	n/a
40	chr15:78423564-78423614	ovcar-3	ovarian:	n/a
41	chr15:78423564-78423614	HEK293	kidney:	embryo
42	chr15:78423564-78423614	K562	blood:	n/a
43	chr15:78423564-78423614	AoSMC	blood vessel:	n/a
44	chr15:78423564-78423614	AG04449	skin:	fetal
45	chr15:78423564-78423614	PANC-1	pancreas:	n/a
46	chr15:78423564-78423614	Jurkat	blood:	n/a
47	chr15:78423564-78423614	HAEpiC	amniotic membrane:	n/a
48	chr15:78423564-78423614	Hela-S3	cervix:	n/a
49	chr15:78423564-78423614	HPAEpiC	pulmonary alveolar:	n/a
50	chr15:78423564-78423614	HMEC	breast:	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
CIB2	TF binding region
IDH3A	TF binding region
CIB2	CpG island
IDH3A	CpG island
ENSG00000174738	Chromatin interaction
ENSG00000103740	Chromatin interaction
ENSG00000260988	Chromatin interaction
ENSG00000166411	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1542100	0.81[ASN][1000 genomes]
rs16969514	0.86[ASN][1000 genomes]
rs1971151	0.87[ASN][1000 genomes]
rs3784328	0.82[ASN][1000 genomes]
rs3784330	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7161765	0.86[ASN][1000 genomes]
rs7359294	0.82[ASN][1000 genomes]
rs8036417	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs11547207	CIB2	cis	Artery Tibial	GTEx
rs11547207	CIB2	cis	Artery Aorta	GTEx
rs11547207	CIB2	cis	Heart Left Ventricle	GTEx
rs11547207	CIB2	cis	Thyroid	GTEx
rs11547207	CIB2	cis	Esophagus Mucosa	GTEx
rs11547207	CIB2	cis	brain	BrainEAC
rs11547207	CIB2	cis	Muscle Skeletal	GTEx
rs11547207	CIB2	cis	lung	GTEx

Chromatin state (count:102 , 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	chr15:78422000-78423600	Weak transcription	Lung	lung
3	chr15:78422000-78424000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:78422200-78424800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:78422400-78423600	Weak transcription	Spleen	Spleen
6	chr15:78422400-78423600	Weak transcription	Hela-S3	cervix
7	chr15:78422600-78423600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr15:78422600-78424200	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr15:78422800-78424400	Active TSS	H9 Cell Line	embryonic stem cell
10	chr15:78422800-78424400	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr15:78422800-78424800	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr15:78423000-78423800	Enhancers	Stomach Mucosa	stomach
13	chr15:78423000-78424000	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr15:78423000-78424000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr15:78423000-78424000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr15:78423000-78424200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:78423000-78424200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr15:78423000-78424200	Active TSS	Brain Cingulate Gyrus	brain
19	chr15:78423000-78424400	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr15:78423000-78424400	Active TSS	Colon Smooth Muscle	Colon
21	chr15:78423000-78424400	Active TSS	Fetal Stomach	stomach
22	chr15:78423000-78424600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr15:78423000-78424800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr15:78423000-78424800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr15:78423000-78425000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr15:78423200-78423600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
27	chr15:78423200-78423600	Enhancers	NHEK	skin
28	chr15:78423200-78423800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
29	chr15:78423200-78423800	Enhancers	Primary T cells fromperipheralblood	blood
30	chr15:78423200-78423800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr15:78423200-78423800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr15:78423200-78423800	Active TSS	HMEC	breast
33	chr15:78423200-78424000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr15:78423200-78424000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr15:78423200-78424000	Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr15:78423200-78424000	Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr15:78423200-78424000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr15:78423200-78424000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr15:78423200-78424000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr15:78423200-78424000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:78423200-78424000	Active TSS	Brain Hippocampus Middle	brain
42	chr15:78423200-78424000	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr15:78423200-78424000	Weak transcription	Fetal Heart	heart
44	chr15:78423200-78424000	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr15:78423200-78424000	Active TSS	GM12878-XiMat	blood
46	chr15:78423200-78424200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr15:78423200-78424200	Active TSS	Brain Angular Gyrus	brain
48	chr15:78423200-78424200	Active TSS	Brain Anterior Caudate	brain
49	chr15:78423200-78424200	Active TSS	Duodenum Mucosa	Duodenum
50	chr15:78423200-78424200	Weak transcription	Fetal Brain Male	brain

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