Variant report

Variant	rs7182476
Chromosome Location	chr15:74903148-74903149
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	CEBPB	chr15:74902795-74903356	K562	blood:	n/a	chr15:74903208-74903221
2	REST	chr15:74902914-74903189	H1-hESC	embryonic stem cell:	n/a	n/a
3	ETS1	chr15:74902618-74903195	K562	blood:	n/a	n/a
4	GATA1	chr15:74902027-74903338	K562	blood:	n/a	chr15:74902957-74902978
5	MAFK	chr15:74902786-74903239	K562	blood:	n/a	n/a
6	TEAD4	chr15:74902585-74903268	K562	blood:	n/a	n/a
7	MYC	chr15:74902661-74903174	K562	blood:	n/a	n/a
8	CEBPD	chr15:74902529-74903464	K562	blood:	n/a	n/a
9	STAT5A	chr15:74902620-74903226	K562	blood:	n/a	chr15:74902676-74902688
10	MYC	chr15:74902627-74903233	K562	blood:	n/a	n/a
11	POLR2A	chr15:74902432-74903315	K562	blood:	n/a	n/a
12	MAZ	chr15:74903104-74903259	HepG2	liver:	n/a	n/a
13	ZBTB7A	chr15:74902708-74903194	K562	blood:	n/a	n/a
14	CEBPB	chr15:74903047-74903384	HepG2	liver:	n/a	chr15:74903208-74903221
15	REST	chr15:74902927-74903164	Hela-S3	cervix:	n/a	n/a
16	PML	chr15:74902596-74903259	K562	blood:	n/a	n/a
17	POLR2A	chr15:74902790-74904032	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr15:74902597-74903185	K562	blood:	n/a	n/a
19	CEBPD	chr15:74902626-74903296	K562	blood:	n/a	n/a
20	GATA2	chr15:74902647-74903171	SH-SY5Y	brain:	n/a	chr15:74902957-74902978
21	JUND	chr15:74902753-74903169	K562	blood:	n/a	n/a
22	GABPA	chr15:74902531-74903237	K562	blood:	n/a	n/a
23	MAZ	chr15:74902627-74903237	K562	blood:	n/a	n/a
24	NR2F2	chr15:74902471-74903257	K562	blood:	n/a	n/a
25	POLR2A	chr15:74902361-74903612	PBDE	blood:	n/a	n/a
26	ZMIZ1	chr15:74902633-74903206	K562	blood:	n/a	n/a
27	UBTF	chr15:74902552-74903180	K562	blood:	n/a	n/a
28	ZNF263	chr15:74902376-74903232	K562	blood:	n/a	chr15:74902750-74902771
29	EP300	chr15:74902643-74903274	K562	blood:	n/a	n/a
30	GATA1	chr15:74902694-74903199	PBDEFetal	blood:	n/a	chr15:74902957-74902978
31	GATA2	chr15:74902557-74903265	K562	blood:	n/a	chr15:74902957-74902978
32	JUN	chr15:74902037-74903380	K562	blood:	n/a	n/a
33	GABPA	chr15:74902536-74903280	K562	blood:	n/a	n/a
34	CCNT2	chr15:74902682-74903223	K562	blood:	n/a	n/a
35	STAT5A	chr15:74902561-74903252	K562	blood:	n/a	chr15:74902676-74902688 chr15:74902611-74902623
36	RCOR1	chr15:74902633-74903186	K562	blood:	n/a	n/a
37	ZNF274	chr15:74902643-74903252	K562	blood:	n/a	n/a
38	MAX	chr15:74902657-74903264	K562	blood:	n/a	n/a
39	CEBPB	chr15:74902690-74903445	K562	blood:	n/a	chr15:74903208-74903221
40	ELF1	chr15:74902945-74903178	K562	blood:	n/a	n/a
41	MYC	chr15:74902686-74903172	K562	blood:	n/a	n/a
42	PML	chr15:74902626-74903233	K562	blood:	n/a	n/a
43	YY1	chr15:74902576-74903163	K562	blood:	n/a	chr15:74902613-74902624 chr15:74902626-74902637
44	CEBPB	chr15:74903050-74903370	Hela-S3	cervix:	n/a	chr15:74903208-74903221
45	CUX1	chr15:74902737-74903244	K562	blood:	n/a	n/a
46	POLR2A	chr15:74902551-74903243	K562	blood:	n/a	n/a
47	ETS1	chr15:74902614-74903219	K562	blood:	n/a	chr15:74902615-74902626
48	MAX	chr15:74902550-74903372	K562	blood:	n/a	n/a
49	SIN3AK20	chr15:74902830-74903237	K562	blood:	n/a	n/a
50	POLR2A	chr15:74902607-74903248	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:74894582..74900725-chr15:74900860..74904385,9	K562	blood:
2	chr15:74878053..74879728-chr15:74902621..74905091,2	MCF-7	breast:
3	chr15:74831596..74833605-chr15:74901570..74904389,2	MCF-7	breast:
4	chr15:74830417..74841177-chr15:74901572..74909407,24	K562	blood:
5	chr15:74901780..74903432-chr15:75088960..75090544,2	K562	blood:
6	chr15:74725454..74727738-chr15:74901290..74903391,2	K562	blood:
7	chr15:74890528..74893317-chr15:74902856..74904726,2	K562	blood:

Variant related genes	Relation type
CLK3	TF binding region
ENSG00000179335	Chromatin interaction
ENSG00000103653	Chromatin interaction
ENSG00000179361	Chromatin interaction
ENSG00000138623	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13379550	1.00[CEU][hapmap]
rs17861107	1.00[CEU][hapmap]
rs2229150	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1809847	chr15:74734500-74948063	Genic enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	esv1812223	chr15:74869438-74948063	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv904379	chr15:74869438-75027880	Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv904380	chr15:74869438-75142761	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	esv1814078	chr15:74884447-74948063	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv457204	chr15:74885091-74948063	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv569991	chr15:74885091-74948063	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv542434	chr15:74885329-74929552	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1047943	chr15:74885329-74940857	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
10	nsv817698	chr15:74889163-75019449	Genic enhancers Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74891400-74903400	Weak transcription	HMEC	breast
2	chr15:74891600-74907200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr15:74892200-74906000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr15:74892200-74906600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:74892400-74906000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr15:74892400-74906400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr15:74892400-74906600	Weak transcription	Primary T cells from cord blood	blood
8	chr15:74892400-74906600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr15:74893000-74906600	Weak transcription	Fetal Brain Female	brain
10	chr15:74893200-74906200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr15:74894400-74906200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr15:74895200-74906400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr15:74901000-74905800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr15:74901200-74903600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr15:74901200-74903600	Bivalent Enhancer	Placenta	Placenta
16	chr15:74901200-74904600	Enhancers	Fetal Muscle Leg	muscle
17	chr15:74901400-74904200	Enhancers	Fetal Thymus	thymus
18	chr15:74901400-74904400	Enhancers	Right Ventricle	heart
19	chr15:74901800-74903800	Enhancers	Fetal Lung	lung
20	chr15:74902200-74903400	Genic enhancers	Fetal Intestine Small	intestine
21	chr15:74902200-74903600	Enhancers	Brain Hippocampus Middle	brain
22	chr15:74902200-74903800	Enhancers	Fetal Heart	heart
23	chr15:74902400-74903600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr15:74902400-74904000	Enhancers	Fetal Stomach	stomach
25	chr15:74902400-74904000	Enhancers	Left Ventricle	heart
26	chr15:74902600-74903200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr15:74902600-74903200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr15:74902600-74903200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr15:74902600-74903200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr15:74902600-74903400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:74902600-74903400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr15:74902600-74903400	Flanking Active TSS	K562	blood
33	chr15:74902600-74903600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr15:74902600-74903600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr15:74902600-74903800	Enhancers	Ovary	ovary
36	chr15:74902600-74904000	Enhancers	Pancreas	Pancrea
37	chr15:74902600-74904200	Enhancers	Right Atrium	heart
38	chr15:74902800-74903400	Weak transcription	Brain Germinal Matrix	brain
39	chr15:74902800-74903600	Enhancers	Fetal Intestine Large	intestine
40	chr15:74902800-74904200	Enhancers	Esophagus	oesophagus
41	chr15:74903000-74906800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr15:74903000-74907000	Weak transcription	Lung	lung
43	chr15:74903000-74907000	Weak transcription	Spleen	Spleen

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