Variant report

Variant	rs558291479
Chromosome Location	chr15:72261389-72261390
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	ESR1	chr15:72261212-72261786	T-47D	breast:	n/a	chr15:72261581-72261598 chr15:72261580-72261597
2	ESR1	chr15:72261383-72261674	T-47D	breast:	n/a	chr15:72261581-72261598 chr15:72261580-72261597
3	ESR1	chr15:72261272-72261758	T-47D	breast:	n/a	chr15:72261581-72261598 chr15:72261580-72261597

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:72249559..72254389-chr15:72257826..72261874,6	MCF-7	breast:

Variant related genes	Relation type
MYO9A	TF binding region
ENSG00000261632	TF binding region
ENSG00000066933	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036938	chr15:71948106-72272855	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv3331306	chr15:72049818-72427559	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv3433206	chr15:72049838-72427529	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv516871	chr15:72126034-72325595	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1042740	chr15:72128799-72482239	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv542426	chr15:72128799-72482239	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv904336	chr15:72145937-72329906	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv457197	chr15:72203517-72296328	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv569910	chr15:72203517-72296328	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv569911	chr15:72203517-72305982	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv457198	chr15:72203517-72325595	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv569912	chr15:72203517-72325595	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv457199	chr15:72261385-72302667	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv569913	chr15:72261385-72302667	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv457200	chr15:72261385-72325595	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv569914	chr15:72261385-72325595	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72225000-72263600	Weak transcription	Fetal Stomach	stomach
2	chr15:72225000-72267600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:72225000-72281600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr15:72225000-72282000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr15:72225000-72305200	Weak transcription	Psoas Muscle	Psoas
6	chr15:72225000-72305600	Weak transcription	Gastric	stomach
7	chr15:72225200-72265000	Weak transcription	Fetal Kidney	kidney
8	chr15:72225800-72270200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr15:72226600-72281800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr15:72226800-72271200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr15:72226800-72343600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr15:72227600-72265800	Weak transcription	HSMMtube	muscle
13	chr15:72227600-72281600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr15:72227600-72281800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr15:72227800-72281600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr15:72227800-72326200	Weak transcription	Fetal Brain Male	brain
17	chr15:72228200-72265600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr15:72228200-72268200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr15:72228800-72261400	Weak transcription	Ovary	ovary
20	chr15:72228800-72268000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr15:72228800-72279600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr15:72228800-72281600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr15:72230600-72291000	Weak transcription	Primary B cells from cord blood	blood
24	chr15:72232800-72264800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr15:72233400-72261400	Weak transcription	GM12878-XiMat	blood
26	chr15:72233400-72267400	Weak transcription	HMEC	breast
27	chr15:72233400-72267800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr15:72233400-72268200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr15:72240000-72268200	Weak transcription	Esophagus	oesophagus
30	chr15:72240200-72282200	Weak transcription	Aorta	Aorta
31	chr15:72241000-72261800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr15:72244200-72269400	Weak transcription	HSMM	muscle
33	chr15:72244200-72281800	Weak transcription	Brain Germinal Matrix	brain
34	chr15:72244400-72269400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr15:72244400-72298600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr15:72244600-72269400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr15:72244800-72281600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr15:72246400-72265800	Weak transcription	Lung	lung
39	chr15:72246600-72268000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr15:72246600-72293600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr15:72246800-72267400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr15:72247800-72281600	Weak transcription	Liver	Liver
43	chr15:72248000-72262200	Weak transcription	Pancreas	Pancrea
44	chr15:72248000-72262600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr15:72248200-72267000	Weak transcription	NHEK	skin
46	chr15:72248400-72262000	Weak transcription	NHDF-Ad	bronchial
47	chr15:72248600-72265800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr15:72250200-72262200	Weak transcription	Osteobl	bone
49	chr15:72250200-72267800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr15:72250200-72281600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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