Variant report

Variant	rs8026333
Chromosome Location	chr15:43477414-43477415
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:349)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:349 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:43477291-43478513	GM12892	blood:	n/a	n/a
2	NFIC	chr15:43477373-43477866	GM12878	blood:	n/a	n/a
3	ZNF143	chr15:43477354-43477743	K562	blood:	n/a	n/a
4	ELK1	chr15:43477310-43477830	Hela-S3	cervix:	n/a	n/a
5	MAX	chr15:43477261-43478459	K562	blood:	n/a	n/a
6	GATA1	chr15:43477378-43477678	K562	blood:	n/a	n/a
7	GATA1	chr15:43477117-43477591	PBDEFetal	blood:	n/a	n/a
8	PML	chr15:43477378-43477858	GM12878	blood:	n/a	chr15:43477388-43477396
9	YY1	chr15:43477317-43478003	HepG2	liver:	n/a	n/a
10	SIN3AK20	chr15:43477322-43478451	H1-hESC	embryonic stem cell:	n/a	n/a
11	BHLHE40	chr15:43477219-43477801	K562	blood:	n/a	n/a
12	POLR2A	chr15:43477337-43478504	GM19193	blood:	n/a	n/a
13	POLR2A	chr15:43477225-43478480	Hela-S3	cervix:	n/a	n/a
14	MYC	chr15:43477369-43477787	MCF-7	breast:	n/a	n/a
15	SIN3A	chr15:43477383-43477845	GM12878	blood:	n/a	n/a
16	EBF1	chr15:43477313-43477754	GM12878	blood:	n/a	n/a
17	POLR2A	chr15:43477172-43477881	HepG2	liver:	n/a	n/a
18	BHLHE40	chr15:43477373-43477807	GM12878	blood:	n/a	n/a
19	POLR2A	chr15:43477256-43477818	K562	blood:	n/a	n/a
20	POLR2A	chr15:43477242-43478527	HL-60	blood:	n/a	n/a
21	POLR2A	chr15:43477208-43477991	HUVEC	blood vessel:	n/a	n/a
22	HCFC1	chr15:43477185-43478343	K562	blood:	n/a	n/a
23	FOXA1	chr15:43477363-43477736	T-47D	breast:	n/a	n/a
24	ETS1	chr15:43477373-43477832	K562	blood:	n/a	chr15:43477614-43477623 chr15:43477614-43477625 chr15:43477615-43477625 chr15:43477614-43477623
25	POLR2A	chr15:43477239-43478695	GM12878	blood:	n/a	n/a
26	POLR2A	chr15:43477358-43477968	MCF-7	breast:	n/a	n/a
27	CHD2	chr15:43477243-43477808	GM12878	blood:	n/a	n/a
28	USF2	chr15:43477336-43477696	GM12878	blood:	n/a	n/a
29	USF1	chr15:43477278-43477712	K562	blood:	n/a	n/a
30	POLR2A	chr15:43477116-43478191	PANC-1	pancreas:	n/a	n/a
31	USF1	chr15:43477305-43477615	SK-N-SH_RA	brain:	n/a	n/a
32	POLR2A	chr15:43477294-43477869	H1-hESC	embryonic stem cell:	n/a	n/a
33	MBD4	chr15:43477303-43477844	HepG2	liver:	n/a	n/a
34	TAF1	chr15:43477319-43477819	H1-neurons	neurons:	n/a	n/a
35	MYC	chr15:43477220-43478627	NB4	blood:	n/a	n/a
36	RUNX3	chr15:43477226-43477822	GM12878	blood:	n/a	n/a
37	TAF1	chr15:43477352-43477899	K562	blood:	n/a	n/a
38	TCF12	chr15:43477307-43478016	ECC-1	luminal epithelium:	n/a	n/a
39	RCOR1	chr15:43477221-43477718	HepG2	liver:	n/a	n/a
40	HMGN3	chr15:43477331-43478146	K562	blood:	n/a	n/a
41	CHD2	chr15:43477378-43477794	K562	blood:	n/a	n/a
42	POLR2A	chr15:43477305-43478424	Hela-S3	cervix:	n/a	n/a
43	MAZ	chr15:43477254-43478488	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr15:43477193-43477838	SK-N-SH	brain:	n/a	n/a
45	CTCF	chr15:43477143-43478704	SK-N-SH	brain:	n/a	chr15:43478084-43478097 chr15:43478084-43478097
46	MAX	chr15:43477326-43477875	H1-hESC	embryonic stem cell:	n/a	n/a
47	GABPA	chr15:43477274-43478479	SK-N-SH	brain:	n/a	n/a
48	ELF1	chr15:43477272-43478461	GM12878	blood:	n/a	chr15:43477613-43477622 chr15:43477612-43477623
49	POLR2A	chr15:43477328-43478339	NB4	blood:	n/a	n/a
50	MAZ	chr15:43477294-43477811	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:43477396-43477446	GM12891	blood:	n/a
2	chr15:43477396-43477446	AoSMC	blood vessel:	n/a
3	chr15:43477396-43477446	HNPCEpiC	eye:	n/a
4	chr15:43477396-43477446	GM19239	blood:	n/a
5	chr15:43477396-43477446	HRCEpiC	kidney:	n/a
6	chr15:43477396-43477446	BE2_C	brain:	n/a
7	chr15:43477396-43477446	HCT-116	colon:	n/a
8	chr15:43477396-43477446	AG10803	skin:	n/a
9	chr15:43477396-43477446	Jurkat	blood:	n/a
10	chr15:43477396-43477446	BJ	skin:	n/a
11	chr15:43477396-43477446	HPAEpiC	pulmonary alveolar:	n/a
12	chr15:43477396-43477446	HUVEC	blood vessel:	n/a
13	chr15:43477396-43477446	HRE	kidney:	n/a
14	chr15:43477396-43477446	MCF-7	breast:	n/a
15	chr15:43477396-43477446	SAEC	small airway:	n/a
16	chr15:43477396-43477446	PrEC	prostate:	n/a
17	chr15:43477396-43477446	PFSK-1	brain:	n/a
18	chr15:43477396-43477446	ProgFib	skin:	n/a
19	chr15:43477396-43477446	HAEpiC	amniotic membrane:	n/a
20	chr15:43477396-43477446	LNCaP	prostate:	n/a
21	chr15:43477396-43477446	IMR90	lung:	fetal
22	chr15:43477396-43477446	HMEC	breast:	n/a
23	chr15:43477396-43477446	Hepatocyte	liver:	n/a
24	chr15:43477396-43477446	HEK293	kidney:	embryo
25	chr15:43477396-43477446	NHBE	bronchial:	n/a
26	chr15:43477396-43477446	SKMC	muscle:	n/a
27	chr15:43477396-43477446	NH-A	brain:	n/a
28	chr15:43477396-43477446	GM06990	blood:	n/a
29	chr15:43477396-43477446	RPTEC	kidney:	n/a
30	chr15:43477396-43477446	Hela-S3	cervix:	n/a
31	chr15:43477396-43477446	AG04450	lung:	fetal
32	chr15:43477396-43477446	HepG2	liver:	n/a
33	chr15:43477396-43477446	T-47D	breast:	n/a
34	chr15:43477396-43477446	SK-N-SH	brain:	n/a
35	chr15:43477396-43477446	HL-60	blood:	n/a
36	chr15:43477396-43477446	AG09309	skin:	n/a
37	chr15:43477396-43477446	A549	lung:	n/a
38	chr15:43477396-43477446	HCF	heart:	n/a
39	chr15:43477396-43477446	NHDF-neo	bronchial:	n/a
40	chr15:43477396-43477446	K562	blood:	n/a
41	chr15:43477396-43477446	SK-N-SH_RA	brain:	n/a
42	chr15:43477396-43477446	GM12878	blood:	n/a
43	chr15:43477396-43477446	HRPEpiC	eye:	n/a
44	chr15:43477396-43477446	GM12892	blood:	n/a
45	chr15:43477396-43477446	U87	brain:	n/a
46	chr15:43477396-43477446	HCM	heart:	n/a
47	chr15:43477396-43477446	HEEpiC	esophagus:	n/a
48	chr15:43477396-43477446	Caco-2	colon:	n/a
49	chr15:43477396-43477446	H1-hESC	embryonic stem cell:	embryo
50	chr15:43477396-43477446	ovcar-3	ovarian:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:43476285..43479868-chr15:43558571..43560739,3	K562	blood:
2	chr15:43476272..43478901-chr15:43620777..43622927,4	K562	blood:
3	chr15:43414543..43416437-chr15:43476770..43479731,2	K562	blood:
4	chr15:43460424..43462230-chr15:43476704..43478906,2	MCF-7	breast:
5	chr1:160312693..160313648-chr15:43477272..43478002,2	Hela-S3	cervix:
6	chr15:43413837..43416869-chr15:43476770..43480897,4	K562	blood:
7	chr15:43469701..43473105-chr15:43474251..43478030,6	K562	blood:
8	chr15:43475230..43478041-chr15:43568264..43571072,2	K562	blood:
9	chr15:43451426..43453660-chr15:43475847..43478396,2	K562	blood:
10	chr15:43477046..43479733-chr15:43513135..43515650,2	MCF-7	breast:

No data

Variant related genes	Relation type
CCNDBP1	TF binding region
ENSG00000261687	TF binding region
CCNDBP1	CpG island
ENSG00000261687	CpG island
ENSG00000261679	Chromatin interaction
ENSG00000137842	Chromatin interaction
ENSG00000162736	Chromatin interaction
ENSG00000159495	Chromatin interaction
ENSG00000104055	Chromatin interaction
ENSG00000166947	Chromatin interaction
ENSG00000168803	Chromatin interaction
ENSG00000168806	Chromatin interaction
ENSG00000122218	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11632120	1.00[YRI][hapmap]
rs12442190	1.00[YRI][hapmap]
rs12913112	1.00[YRI][hapmap]
rs7166467	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525461	chr15:43062548-43482127	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv569241	chr15:43201109-43522922	Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv904136	chr15:43257475-43482127	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv904139	chr15:43268970-43482127	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv904144	chr15:43276345-43482127	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	esv1802035	chr15:43370916-43487742	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43447600-43477600	Weak transcription	Small Intestine	intestine
2	chr15:43467000-43477600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr15:43468200-43477600	Weak transcription	Aorta	Aorta
4	chr15:43468400-43477600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr15:43473800-43477600	Weak transcription	Liver	Liver
6	chr15:43476800-43477600	Enhancers	Fetal Brain Male	brain
7	chr15:43476800-43477600	Flanking Active TSS	Dnd41	blood
8	chr15:43476800-43478800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:43477000-43477600	Flanking Active TSS	Fetal Brain Female	brain
10	chr15:43477000-43477600	Enhancers	Fetal Heart	heart
11	chr15:43477000-43477600	Flanking Active TSS	Fetal Thymus	thymus
12	chr15:43477000-43477600	Flanking Active TSS	Thymus	Thymus
13	chr15:43477000-43477600	Enhancers	Spleen	Spleen
14	chr15:43477000-43478200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:43477000-43478800	Active TSS	H9 Cell Line	embryonic stem cell
16	chr15:43477000-43479000	Active TSS	Brain Hippocampus Middle	brain
17	chr15:43477000-43479200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr15:43477200-43477600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr15:43477200-43477600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr15:43477200-43477600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr15:43477200-43477600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr15:43477200-43477600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr15:43477200-43477600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr15:43477200-43477600	Flanking Active TSS	Fetal Muscle Leg	muscle
25	chr15:43477200-43477600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr15:43477200-43477800	Flanking Active TSS	Fetal Muscle Trunk	muscle
27	chr15:43477200-43478000	Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr15:43477200-43478000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr15:43477200-43478000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr15:43477200-43478000	Active TSS	HepG2	liver
31	chr15:43477200-43478200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr15:43477200-43478200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr15:43477200-43478200	Active TSS	Primary T cells from cord blood	blood
34	chr15:43477200-43478200	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr15:43477200-43478200	Active TSS	Brain Substantia Nigra	brain
36	chr15:43477200-43478200	Active TSS	Fetal Lung	lung
37	chr15:43477200-43478200	Active TSS	Stomach Smooth Muscle	stomach
38	chr15:43477200-43478200	Active TSS	HSMM	muscle
39	chr15:43477200-43478200	Active TSS	NHEK	skin
40	chr15:43477200-43478200	Active TSS	Osteobl	bone
41	chr15:43477200-43478400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr15:43477200-43478400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:43477200-43478400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr15:43477200-43478400	Active TSS	Muscle Satellite Cultured Cells	--
45	chr15:43477200-43478400	Active TSS	Psoas Muscle	Psoas
46	chr15:43477200-43478600	Active TSS	H1 Cell Line	embryonic stem cell
47	chr15:43477200-43478600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr15:43477200-43478600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr15:43477200-43478600	Active TSS	Brain Anterior Caudate	brain
50	chr15:43477200-43478600	Active TSS	Colon Smooth Muscle	Colon

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