Variant report

Variant	rs547037554
Chromosome Location	chr15:52268030-52268031
allele	C/G
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	STAT1	chr15:52267791-52268280	Hela-S3	cervix:	n/a	chr15:52268038-52268049

No.	Distal block	Cell Line	Cell type
1	chr15:52266921..52268436-chr15:52310388..52312798,2	MCF-7	breast:
2	chr15:52266394..52269371-chr17:57935595..57937194,2	MCF-7	breast:
3	chr15:52268028..52270216-chr15:52470821..52473204,2	MCF-7	breast:
4	chr15:52267047..52268763-chr15:52371441..52374035,2	K562	blood:
5	chr15:52267594..52270331-chr15:52272576..52274636,3	MCF-7	breast:

Variant related genes	Relation type
LEO1	TF binding region
ENSG00000259438	Chromatin interaction
ENSG00000259577	Chromatin interaction
ENSG00000069956	Chromatin interaction
ENSG00000069966	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569409	chr15:52028914-52268144	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2830255	chr15:52133914-52274863	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1053788	chr15:52223389-52307138	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1047260	chr15:52257100-52337418	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
5	nsv569410	chr15:52257874-52273132	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv15501	chr15:52265256-52273371	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
7	nsv1050664	chr15:52265723-52342101	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv442376	chr15:52265735-52273284	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
9	nsv514781	chr15:52265740-52273308	Strong transcription Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
10	nsv569411	chr15:52266878-52270680	Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
11	nsv569412	chr15:52266878-52272701	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
12	nsv569413	chr15:52266878-52273132	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
13	nsv517399	chr15:52266878-52305464	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv569414	chr15:52267928-52270861	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
15	nsv569415	chr15:52267928-52272073	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
16	nsv569416	chr15:52267928-52272701	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
17	nsv569417	chr15:52267928-52273132	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52264600-52273000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr15:52264600-52273000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr15:52264600-52273000	Weak transcription	Liver	Liver
4	chr15:52264600-52273000	Weak transcription	Right Ventricle	heart
5	chr15:52264600-52273600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr15:52264600-52273600	Weak transcription	Brain Hippocampus Middle	brain
7	chr15:52264600-52273600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr15:52264600-52273600	Weak transcription	Stomach Mucosa	stomach
9	chr15:52264600-52273800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr15:52264600-52273800	Weak transcription	Brain Anterior Caudate	brain
11	chr15:52264600-52273800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr15:52264600-52273800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr15:52264600-52273800	Weak transcription	Brain Substantia Nigra	brain
14	chr15:52264600-52273800	Weak transcription	Thymus	Thymus
15	chr15:52264600-52274000	Weak transcription	Colonic Mucosa	Colon
16	chr15:52264600-52274200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr15:52264600-52274400	Weak transcription	Pancreas	Pancrea
18	chr15:52264800-52269600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:52264800-52273000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr15:52264800-52273000	Weak transcription	Hela-S3	cervix
21	chr15:52264800-52273200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr15:52264800-52273200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr15:52264800-52273600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr15:52264800-52273600	Weak transcription	NHEK	skin
25	chr15:52264800-52273800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr15:52264800-52273800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr15:52264800-52273800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr15:52264800-52273800	Weak transcription	Fetal Muscle Leg	muscle
29	chr15:52264800-52274000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr15:52264800-52274000	Weak transcription	Fetal Intestine Large	intestine
31	chr15:52265000-52273000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr15:52265000-52273800	Weak transcription	HSMM	muscle
33	chr15:52265200-52269800	Weak transcription	Fetal Brain Female	brain
34	chr15:52265200-52273000	Weak transcription	Fetal Thymus	thymus
35	chr15:52265200-52273800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr15:52265200-52273800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:52265400-52273000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr15:52265600-52273800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr15:52265800-52272600	Weak transcription	HepG2	liver
40	chr15:52266400-52273800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr15:52266600-52269800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr15:52266600-52273800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr15:52267000-52269800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr15:52267000-52273200	Weak transcription	Fetal Intestine Small	intestine
45	chr15:52267200-52273800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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