Variant report

Variant	rs72735627
Chromosome Location	chr15:41057507-41057508
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	POLR2A	chr15:41055349-41059478	PANC-1	pancreas:	n/a	n/a
2	CEBPB	chr15:41057300-41057823	HepG2	liver:	n/a	n/a
3	POLR2A	chr15:41057450-41057585	HepG2	liver:	n/a	n/a
4	FOS	chr15:41057456-41057798	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr15:41057448-41059233	PFSK-1	brain:	n/a	n/a
6	MAX	chr15:41057464-41057890	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr15:41057229-41057910	K562	blood:	n/a	chr15:41057853-41057861
8	POLR2A	chr15:41057458-41058936	HepG2	liver:	n/a	n/a
9	CEBPB	chr15:41057274-41057956	ECC-1	luminal epithelium:	n/a	chr15:41057853-41057861
10	CEBPB	chr15:41057101-41057911	Hela-S3	cervix:	n/a	chr15:41057853-41057861
11	TBP	chr15:41057378-41057850	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr15:41057403-41057953	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr15:41057350-41057827	H1-hESC	embryonic stem cell:	n/a	n/a
14	EBF1	chr15:41057397-41057609	GM12878	blood:	n/a	n/a
15	MTA3	chr15:41055408-41058034	GM12878	blood:	n/a	n/a
16	CEBPB	chr15:41057303-41057792	K562	blood:	n/a	n/a
17	POLR2A	chr15:41055474-41058908	GM12878	blood:	n/a	n/a
18	STAT3	chr15:41057396-41057595	MCF10A-Er-Src	breast:	n/a	n/a
19	E2F4	chr15:41057434-41057655	MCF10A-Er-Src	breast:	n/a	n/a
20	NFATC1	chr15:41057286-41058073	GM12878	blood:	n/a	n/a
21	POLR2A	chr15:41055973-41059813	K562	blood:	n/a	n/a
22	SMARCC1	chr15:41055327-41057621	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr15:41057286-41057867	K562	blood:	n/a	chr15:41057853-41057861
24	CEBPB	chr15:41057271-41057822	ECC-1	luminal epithelium:	n/a	n/a
25	STAT5A	chr15:41056825-41057630	GM12878	blood:	n/a	chr15:41056896-41056905 chr15:41056891-41056911 chr15:41056897-41056906 chr15:41056897-41056920
26	NFATC1	chr15:41055747-41058275	GM12878	blood:	n/a	n/a
27	CEBPB	chr15:41057313-41057825	A549	lung:	n/a	n/a
28	POLR2A	chr15:41057502-41057817	MCF10A-Er-Src	breast:	n/a	n/a
29	ZNF143	chr15:41057433-41057976	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr15:41055263-41059033	K562	blood:	n/a	n/a
31	CEBPB	chr15:41057291-41057845	IMR90	lung:	n/a	n/a
32	MYC	chr15:41057481-41057681	MCF10A-Er-Src	breast:	n/a	n/a
33	RUNX3	chr15:41056943-41057947	GM12878	blood:	n/a	n/a
34	BHLHE40	chr15:41056045-41057888	GM12878	blood:	n/a	n/a
35	STAT5A	chr15:41055437-41057604	GM12878	blood:	n/a	chr15:41056896-41056905 chr15:41056891-41056911 chr15:41056551-41056563 chr15:41056897-41056906 chr15:41056897-41056920
36	BHLHE40	chr15:41055373-41057994	K562	blood:	n/a	n/a
37	RFX5	chr15:41057442-41057821	Hela-S3	cervix:	n/a	n/a
38	NFIC	chr15:41057047-41057756	GM12878	blood:	n/a	n/a
39	SMC3	chr15:41057266-41057753	HepG2	liver:	n/a	n/a
40	CEBPB	chr15:41057297-41057913	MCF-7	breast:	n/a	chr15:41057853-41057861
41	HCFC1	chr15:41054658-41062813	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr15:41057373-41057744	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr15:41057392-41058864	SK-N-MC	brain:	n/a	n/a
44	NFIC	chr15:41057498-41058418	ECC-1	luminal epithelium:	n/a	chr15:41057984-41058001 chr15:41057983-41057999 chr15:41057983-41058000 chr15:41057985-41058001
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	FOS	chr15:41057397-41057762	MCF10A-Er-Src	breast:	n/a	n/a
48	TBL1XR1	chr15:41057390-41058000	GM12878	blood:	n/a	n/a
49	POLR2A	chr15:41057431-41058038	Raji	blood:	n/a	n/a
50	POLR2A	chr15:41057488-41057892	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:40990811..40992810-chr15:41055825..41057654,2	MCF-7	breast:
2	chr15:41053870..41057648-chr15:41097391..41099914,3	K562	blood:
3	chr15:41056788..41057576-chrX:16803748..16804597,2	Hela-S3	cervix:
4	chr15:41042059..41049706-chr15:41053861..41061949,15	MCF-7	breast:
5	chr15:40985800..40990095-chr15:41055400..41057901,4	K562	blood:
6	chr15:41056057..41057921-chr15:41407305..41409021,2	K562	blood:
7	chr15:41054213..41057951-chr15:41097645..41100150,5	K562	blood:
8	chr15:41056057..41058777-chr15:41406413..41409021,2	K562	blood:
9	chr15:41055458..41058081-chr15:41065711..41068133,2	K562	blood:
10	chr15:41054628..41058503-chr15:41058814..41065530,15	K562	blood:
11	chr15:41053928..41056375-chr15:41057436..41059478,2	MCF-7	breast:
12	chr15:41055716..41060288-chr15:41072655..41077591,4	MCF-7	breast:

Variant related genes	Relation type
C15orf62	TF binding region
GCHFR	TF binding region
ENSG00000137824	Chromatin interaction
ENSG00000137880	Chromatin interaction
ENSG00000245849	Chromatin interaction
ENSG00000104129	Chromatin interaction
ENSG00000188277	Chromatin interaction
ENSG00000166140	Chromatin interaction
ENSG00000128908	Chromatin interaction
ENSG00000051180	Chromatin interaction
ENSG00000086712	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17716350	1.00[AFR][1000 genomes]
rs17747351	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72733486	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]

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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41055200-41057600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr15:41055200-41058000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr15:41055400-41057600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr15:41055400-41057600	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr15:41055400-41057600	Flanking Active TSS	Osteobl	bone
6	chr15:41055400-41058000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr15:41055400-41058000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:41055400-41058000	Flanking Active TSS	NHEK	skin
9	chr15:41056000-41057600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr15:41056600-41057600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr15:41056600-41058000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr15:41056600-41058000	Flanking Active TSS	K562	blood
13	chr15:41056600-41058400	Enhancers	HMEC	breast
14	chr15:41056600-41058800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr15:41056800-41057600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr15:41056800-41057600	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr15:41056800-41057600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr15:41056800-41057600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr15:41056800-41057600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr15:41056800-41057600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr15:41056800-41057600	Flanking Active TSS	Liver	Liver
22	chr15:41056800-41057600	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr15:41056800-41057600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr15:41056800-41057600	Enhancers	Small Intestine	intestine
25	chr15:41056800-41058000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:41056800-41058000	Flanking Active TSS	Fetal Lung	lung
27	chr15:41056800-41058000	Flanking Active TSS	Hela-S3	cervix
28	chr15:41056800-41058000	Enhancers	HSMM	muscle
29	chr15:41056800-41058000	Enhancers	HUVEC	blood vessel
30	chr15:41056800-41058400	Enhancers	Spleen	Spleen
31	chr15:41056800-41058600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr15:41056800-41059200	Enhancers	Gastric	stomach
33	chr15:41056800-41059400	Weak transcription	Brain Anterior Caudate	brain
34	chr15:41057000-41057600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr15:41057000-41057600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr15:41057000-41057600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr15:41057000-41057600	Enhancers	Fetal Heart	heart
38	chr15:41057000-41057800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr15:41057000-41058000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr15:41057000-41058000	Enhancers	Fetal Muscle Leg	muscle
41	chr15:41057000-41058200	Enhancers	Primary B cells from peripheral blood	blood
42	chr15:41057000-41058200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr15:41057000-41058200	Enhancers	Fetal Muscle Trunk	muscle
44	chr15:41057000-41058200	Enhancers	Ovary	ovary
45	chr15:41057000-41058200	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr15:41057000-41058200	Enhancers	A549	lung
47	chr15:41057000-41058400	Enhancers	Brain Germinal Matrix	brain
48	chr15:41057000-41058600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:41057000-41059000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr15:41057000-41059000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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