Variant report

Variant	rs7182689
Chromosome Location	chr15:41058239-41058240
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	chr15:41057524-41058298	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr15:41055349-41059478	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr15:41057635-41061953	K562	blood:	n/a	n/a
4	POLR2A	chr15:41057608-41059993	ECC-1	luminal epithelium:	n/a	n/a
5	NFIC	chr15:41057641-41058348	ECC-1	luminal epithelium:	n/a	chr15:41057984-41058001 chr15:41057983-41057999 chr15:41057983-41058000 chr15:41057985-41058001
6	POLR2A	chr15:41057448-41059233	PFSK-1	brain:	n/a	n/a
7	STAT3	chr15:41058219-41058280	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr15:41057458-41058936	HepG2	liver:	n/a	n/a
9	POLR2A	chr15:41057615-41058278	HL-60	blood:	n/a	n/a
10	POLR2A	chr15:41055474-41058908	GM12878	blood:	n/a	n/a
11	POLR2A	chr15:41055973-41059813	K562	blood:	n/a	n/a
12	POLR2A	chr15:41058227-41058551	HCT-116	colon:	n/a	n/a
13	NFATC1	chr15:41055747-41058275	GM12878	blood:	n/a	n/a
14	POLR2A	chr15:41055263-41059033	K562	blood:	n/a	n/a
15	PML	chr15:41058088-41058617	GM12878	blood:	n/a	n/a
16	POLR2A	chr15:41057591-41062786	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr15:41057694-41058250	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr15:41057658-41059095	GM12878	blood:	n/a	n/a
19	HCFC1	chr15:41054658-41062813	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr15:41057392-41058864	SK-N-MC	brain:	n/a	n/a
21	NFIC	chr15:41057498-41058418	ECC-1	luminal epithelium:	n/a	chr15:41057984-41058001 chr15:41057983-41057999 chr15:41057983-41058000 chr15:41057985-41058001
22	POLR2A	chr15:41057297-41058799	GM12892	blood:	n/a	n/a
23	POLR2A	chr15:41055322-41058989	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr15:41057559-41058742	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr15:41055342-41058622	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr15:41058114-41058745	HepG2	liver:	n/a	n/a

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	chr15:41054628..41058503-chr15:41058814..41065530,15	K562	blood:
4	chr15:41058103..41060724-chr15:41061996..41063790,2	MCF-7	breast:
5	chr15:41053928..41056375-chr15:41057436..41059478,2	MCF-7	breast:
6	chr15:41055716..41060288-chr15:41072655..41077591,4	MCF-7	breast:

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

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12101791	1.00[AMR][1000 genomes]
rs16970960	1.00[AMR][1000 genomes]
rs16971008	0.84[AFR][1000 genomes]
rs34445444	1.00[AMR][1000 genomes]
rs7162522	1.00[AMR][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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41056600-41058400	Enhancers	HMEC	breast
2	chr15:41056600-41058800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr15:41056800-41058400	Enhancers	Spleen	Spleen
4	chr15:41056800-41058600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr15:41056800-41059200	Enhancers	Gastric	stomach
6	chr15:41056800-41059400	Weak transcription	Brain Anterior Caudate	brain
7	chr15:41057000-41058400	Enhancers	Brain Germinal Matrix	brain
8	chr15:41057000-41058600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:41057000-41059000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr15:41057000-41059000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr15:41057000-41059000	Enhancers	NHDF-Ad	bronchial
12	chr15:41057000-41059400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr15:41057000-41059400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr15:41057000-41059400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr15:41057000-41059800	Enhancers	Placenta Amnion	Placenta Amnion
16	chr15:41057000-41060000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr15:41057000-41060200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr15:41057000-41062200	Weak transcription	Aorta	Aorta
19	chr15:41057000-41062600	Enhancers	NH-A	brain
20	chr15:41057200-41058400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr15:41057200-41058400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr15:41057200-41058400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr15:41057200-41058400	Enhancers	Brain Hippocampus Middle	brain
24	chr15:41057200-41058400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
25	chr15:41057200-41058400	Enhancers	Placenta	Placenta
26	chr15:41057200-41058400	Weak transcription	Fetal Stomach	stomach
27	chr15:41057200-41058400	Enhancers	Pancreas	Pancrea
28	chr15:41057200-41058600	Enhancers	Brain Cingulate Gyrus	brain
29	chr15:41057200-41058600	Enhancers	Colonic Mucosa	Colon
30	chr15:41057200-41058600	Enhancers	Fetal Thymus	thymus
31	chr15:41057200-41058800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr15:41057200-41059000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr15:41057200-41059000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr15:41057200-41059000	Weak transcription	Fetal Brain Female	brain
35	chr15:41057200-41059000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr15:41057200-41059400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr15:41057200-41059400	Weak transcription	Right Ventricle	heart
38	chr15:41057200-41059400	Enhancers	NHLF	lung
39	chr15:41057200-41059800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr15:41057200-41059800	Weak transcription	Brain Substantia Nigra	brain
41	chr15:41057200-41060000	Enhancers	H1 Cell Line	embryonic stem cell
42	chr15:41057200-41061200	Weak transcription	Right Atrium	heart
43	chr15:41057200-41063200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr15:41057200-41063400	Weak transcription	HSMMtube	muscle
45	chr15:41057200-41063800	Weak transcription	Colon Smooth Muscle	Colon
46	chr15:41057200-41065400	Weak transcription	Brain Angular Gyrus	brain
47	chr15:41057200-41068200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr15:41057400-41058400	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr15:41057400-41058400	Enhancers	Primary T cells fromperipheralblood	blood
50	chr15:41057400-41058400	Enhancers	Primary T killer memory cells from peripheral blood	blood

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