Variant report

Variant	rs7182456
Chromosome Location	chr15:41057952-41057953
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:52 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:41057524-41058298	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr15:41055349-41059478	PANC-1	pancreas:	n/a	n/a
3	SIN3A	chr15:41057699-41057952	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr15:41057635-41061953	K562	blood:	n/a	n/a
5	POLR2A	chr15:41057608-41059993	ECC-1	luminal epithelium:	n/a	n/a
6	TAF1	chr15:41057655-41058113	H1-hESC	embryonic stem cell:	n/a	n/a
7	NFIC	chr15:41057641-41058348	ECC-1	luminal epithelium:	n/a	chr15:41057984-41058001 chr15:41057983-41057999 chr15:41057983-41058000 chr15:41057985-41058001
8	POLR2A	chr15:41057448-41059233	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr15:41057813-41058015	HepG2	liver:	n/a	n/a
10	POLR2A	chr15:41057458-41058936	HepG2	liver:	n/a	n/a
11	CEBPB	chr15:41057274-41057956	ECC-1	luminal epithelium:	n/a	chr15:41057853-41057861
12	POLR2A	chr15:41057615-41058278	HL-60	blood:	n/a	n/a
13	POLR2A	chr15:41057403-41057953	Hela-S3	cervix:	n/a	n/a
14	MAZ	chr15:41057705-41058003	K562	blood:	n/a	n/a
15	MTA3	chr15:41055408-41058034	GM12878	blood:	n/a	n/a
16	POLR2A	chr15:41057701-41058202	GM12892	blood:	n/a	n/a
17	POLR2A	chr15:41055474-41058908	GM12878	blood:	n/a	n/a
18	POLR2A	chr15:41057801-41057979	HepG2	liver:	n/a	n/a
19	POLR2A	chr15:41057655-41058083	GM12878	blood:	n/a	n/a
20	NFATC1	chr15:41057286-41058073	GM12878	blood:	n/a	n/a
21	POLR2A	chr15:41057638-41058038	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr15:41055973-41059813	K562	blood:	n/a	n/a
23	POLR2A	chr15:41057703-41058010	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr15:41057612-41057981	K562	blood:	n/a	n/a
25	RCOR1	chr15:41057591-41057991	K562	blood:	n/a	n/a
26	NFATC1	chr15:41055747-41058275	GM12878	blood:	n/a	n/a
27	POLR2A	chr15:41057661-41058070	GM12878	blood:	n/a	n/a
28	ZNF143	chr15:41057433-41057976	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr15:41055263-41059033	K562	blood:	n/a	n/a
30	POLR2A	chr15:41057591-41062786	Hela-S3	cervix:	n/a	n/a
31	GTF2F1	chr15:41057595-41057976	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr15:41057694-41058250	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr15:41057658-41059095	GM12878	blood:	n/a	n/a
34	ZNF143	chr15:41057778-41057970	H1-hESC	embryonic stem cell:	n/a	n/a
35	BHLHE40	chr15:41055373-41057994	K562	blood:	n/a	n/a
36	POLR2A	chr15:41057734-41058084	H1-hESC	embryonic stem cell:	n/a	n/a
37	HMGN3	chr15:41057772-41058057	K562	blood:	n/a	n/a
38	HCFC1	chr15:41054658-41062813	Hela-S3	cervix:	n/a	n/a
39	TBP	chr15:41057760-41058083	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr15:41057392-41058864	SK-N-MC	brain:	n/a	n/a
41	NFIC	chr15:41057498-41058418	ECC-1	luminal epithelium:	n/a	chr15:41057984-41058001 chr15:41057983-41057999 chr15:41057983-41058000 chr15:41057985-41058001
42	MXI1	chr15:41057626-41057996	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr15:41057839-41058133	K562	blood:	n/a	n/a
44	SP4	chr15:41057714-41057997	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr15:41057297-41058799	GM12892	blood:	n/a	n/a
46	ZNF263	chr15:41057445-41058164	HEK293-T-REx	kidney:	n/a	chr15:41057950-41057959
47	TBL1XR1	chr15:41057390-41058000	GM12878	blood:	n/a	n/a
48	POLR2A	chr15:41057431-41058038	Raji	blood:	n/a	n/a
49	POLR2A	chr15:41055322-41058989	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr15:41057559-41058742	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:41042059..41049706-chr15:41053861..41061949,15	MCF-7	breast:
2	chr15:41056057..41058777-chr15:41406413..41409021,2	K562	blood:
3	chr15:41055458..41058081-chr15:41065711..41068133,2	K562	blood:
4	chr15:41054628..41058503-chr15:41058814..41065530,15	K562	blood:
5	chr15:41053928..41056375-chr15:41057436..41059478,2	MCF-7	breast:
6	chr15:41055716..41060288-chr15:41072655..41077591,4	MCF-7	breast:

No data

Variant related genes	Relation type
C15orf62	TF binding region
ENSG00000137880	Chromatin interaction
ENSG00000188277	Chromatin interaction
ENSG00000137824	Chromatin interaction
ENSG00000128908	Chromatin interaction
ENSG00000104129	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs16970997	1.00[MEX][hapmap]
rs16971008	0.88[YRI][hapmap]
rs16971013	1.00[MEX][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes]
rs16971015	0.83[AMR][1000 genomes]
rs2004043	0.83[AMR][1000 genomes]
rs2412552	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs28480346	0.83[AMR][1000 genomes]
rs28498351	0.83[AMR][1000 genomes]
rs28718778	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58036350	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61317135	0.83[AMR][1000 genomes]
rs6492966	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7165694	0.89[ASW][hapmap];1.00[MEX][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7172251	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398512	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73398517	0.80[AFR][1000 genomes]
rs73398522	0.80[AFR][1000 genomes]
rs934783	1.00[MEX][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes]
rs9806730	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053173	chr15:40933163-41094127	Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv542363	chr15:40933163-41094127	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv904102	chr15:41046883-41201699	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41055200-41058000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr15:41055400-41058000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr15:41055400-41058000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr15:41055400-41058000	Flanking Active TSS	NHEK	skin
5	chr15:41056600-41058000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr15:41056600-41058000	Flanking Active TSS	K562	blood
7	chr15:41056600-41058400	Enhancers	HMEC	breast
8	chr15:41056600-41058800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr15:41056800-41058000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:41056800-41058000	Flanking Active TSS	Fetal Lung	lung
11	chr15:41056800-41058000	Flanking Active TSS	Hela-S3	cervix
12	chr15:41056800-41058000	Enhancers	HSMM	muscle
13	chr15:41056800-41058000	Enhancers	HUVEC	blood vessel
14	chr15:41056800-41058400	Enhancers	Spleen	Spleen
15	chr15:41056800-41058600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr15:41056800-41059200	Enhancers	Gastric	stomach
17	chr15:41056800-41059400	Weak transcription	Brain Anterior Caudate	brain
18	chr15:41057000-41058000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr15:41057000-41058000	Enhancers	Fetal Muscle Leg	muscle
20	chr15:41057000-41058200	Enhancers	Primary B cells from peripheral blood	blood
21	chr15:41057000-41058200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr15:41057000-41058200	Enhancers	Fetal Muscle Trunk	muscle
23	chr15:41057000-41058200	Enhancers	Ovary	ovary
24	chr15:41057000-41058200	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr15:41057000-41058200	Enhancers	A549	lung
26	chr15:41057000-41058400	Enhancers	Brain Germinal Matrix	brain
27	chr15:41057000-41058600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr15:41057000-41059000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr15:41057000-41059000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr15:41057000-41059000	Enhancers	NHDF-Ad	bronchial
31	chr15:41057000-41059400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr15:41057000-41059400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr15:41057000-41059400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr15:41057000-41059800	Enhancers	Placenta Amnion	Placenta Amnion
35	chr15:41057000-41060000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr15:41057000-41060200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr15:41057000-41062200	Weak transcription	Aorta	Aorta
38	chr15:41057000-41062600	Enhancers	NH-A	brain
39	chr15:41057200-41058000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr15:41057200-41058000	Enhancers	Primary B cells from cord blood	blood
41	chr15:41057200-41058000	Weak transcription	Lung	lung
42	chr15:41057200-41058000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr15:41057200-41058000	Flanking Active TSS	HepG2	liver
44	chr15:41057200-41058200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr15:41057200-41058200	Enhancers	Primary hematopoietic stem cells	blood
46	chr15:41057200-41058400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr15:41057200-41058400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr15:41057200-41058400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr15:41057200-41058400	Enhancers	Brain Hippocampus Middle	brain
50	chr15:41057200-41058400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine

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