Variant report

Variant	rs542141544
Chromosome Location	chr15:43480438-43480439
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	CTCF	chr15:43479620-43480657	SK-N-SH	brain:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
2	SMC3	chr15:43479662-43480562	SK-N-SH	brain:	n/a	chr15:43479947-43479961

No.	Distal block	Cell Line	Cell type
1	chr15:43478839..43481750-chr15:43486043..43488157,2	K562	blood:
2	chr15:43413837..43416869-chr15:43476770..43480897,4	K562	blood:
3	chr15:43479061..43481710-chr15:43621878..43623729,2	K562	blood:

Variant related genes	Relation type
CCNDBP1	TF binding region
ENSG00000261687	TF binding region
ENSG00000168803	Chromatin interaction
ENSG00000166946	Chromatin interaction
ENSG00000137842	Chromatin interaction
ENSG00000168806	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525461	chr15:43062548-43482127	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv569241	chr15:43201109-43522922	Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv904136	chr15:43257475-43482127	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv904139	chr15:43268970-43482127	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv904144	chr15:43276345-43482127	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	esv1802035	chr15:43370916-43487742	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	esv1793290	chr15:43479328-43487742	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43478600-43480600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr15:43478600-43481400	Weak transcription	Ovary	ovary
3	chr15:43478600-43481600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:43478600-43481600	Weak transcription	Esophagus	oesophagus
5	chr15:43478600-43481600	Weak transcription	Fetal Lung	lung
6	chr15:43478600-43481600	Weak transcription	Gastric	stomach
7	chr15:43478600-43481600	Weak transcription	Lung	lung
8	chr15:43478600-43481600	Weak transcription	Spleen	Spleen
9	chr15:43478600-43482200	Weak transcription	Pancreas	Pancrea
10	chr15:43478600-43489000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr15:43478600-43489600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:43478600-43496200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:43478800-43480600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr15:43478800-43480800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr15:43478800-43480800	Genic enhancers	Primary B cells from peripheral blood	blood
16	chr15:43478800-43480800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr15:43478800-43481200	Weak transcription	Fetal Muscle Leg	muscle
18	chr15:43478800-43481200	Weak transcription	Thymus	Thymus
19	chr15:43478800-43481400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr15:43478800-43481400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr15:43478800-43481400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr15:43478800-43481400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr15:43478800-43481400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr15:43478800-43481400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr15:43478800-43481400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr15:43478800-43481400	Weak transcription	Fetal Thymus	thymus
27	chr15:43478800-43481400	Weak transcription	HSMM	muscle
28	chr15:43478800-43481400	Weak transcription	HUVEC	blood vessel
29	chr15:43478800-43481600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr15:43478800-43481600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr15:43478800-43481600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr15:43478800-43481600	Weak transcription	Aorta	Aorta
33	chr15:43478800-43481600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr15:43478800-43481600	Weak transcription	Fetal Stomach	stomach
35	chr15:43478800-43481600	Weak transcription	Left Ventricle	heart
36	chr15:43478800-43481600	Weak transcription	Right Ventricle	heart
37	chr15:43478800-43481600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr15:43478800-43481800	Weak transcription	Fetal Brain Male	brain
39	chr15:43478800-43481800	Enhancers	Fetal Heart	heart
40	chr15:43478800-43481800	Weak transcription	Psoas Muscle	Psoas
41	chr15:43478800-43482000	Weak transcription	HSMMtube	muscle
42	chr15:43478800-43482200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr15:43478800-43482200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr15:43478800-43482200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr15:43478800-43482200	Weak transcription	NH-A	brain
46	chr15:43478800-43486800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr15:43478800-43487000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr15:43478800-43494000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr15:43479000-43481400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr15:43479000-43481600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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