Variant report

Variant	rs375501621
Chromosome Location	chr15:43480198-43480199
allele	-/TTG
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	RAD21	chr15:43479690-43480336	SK-N-SH	brain:	n/a	chr15:43479946-43479965
3	SMC3	chr15:43479771-43480424	GM12878	blood:	n/a	chr15:43479947-43479961
4	CTCF	chr15:43479753-43480299	IMR90	lung:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
5	RAD21	chr15:43479677-43480218	HCT-116	colon:	n/a	chr15:43479946-43479965
6	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:
4	chr15:43479840..43480426-chr15:43577468..43578377,2	K562	blood:
5	chr15:43478113..43480240-chr15:43513375..43516202,2	K562	blood:

Variant related genes	Relation type
ENSG00000261687	TF binding region
CCNDBP1	TF binding region
ENSG00000166947	Chromatin interaction
ENSG00000166946	Chromatin interaction
ENSG00000168803	Chromatin interaction
ENSG00000168806	Chromatin interaction
ENSG00000137842	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	chr15:43478800-43480200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr15:43478800-43480400	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr15:43478800-43480400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr15:43478800-43480400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr15:43478800-43480400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr15:43478800-43480400	Weak transcription	Small Intestine	intestine
19	chr15:43478800-43480400	Weak transcription	A549	lung
20	chr15:43478800-43480600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr15:43478800-43480800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr15:43478800-43480800	Genic enhancers	Primary B cells from peripheral blood	blood
23	chr15:43478800-43480800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr15:43478800-43481200	Weak transcription	Fetal Muscle Leg	muscle
25	chr15:43478800-43481200	Weak transcription	Thymus	Thymus
26	chr15:43478800-43481400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr15:43478800-43481400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr15:43478800-43481400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr15:43478800-43481400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr15:43478800-43481400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr15:43478800-43481400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr15:43478800-43481400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr15:43478800-43481400	Weak transcription	Fetal Thymus	thymus
34	chr15:43478800-43481400	Weak transcription	HSMM	muscle
35	chr15:43478800-43481400	Weak transcription	HUVEC	blood vessel
36	chr15:43478800-43481600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr15:43478800-43481600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr15:43478800-43481600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr15:43478800-43481600	Weak transcription	Aorta	Aorta
40	chr15:43478800-43481600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr15:43478800-43481600	Weak transcription	Fetal Stomach	stomach
42	chr15:43478800-43481600	Weak transcription	Left Ventricle	heart
43	chr15:43478800-43481600	Weak transcription	Right Ventricle	heart
44	chr15:43478800-43481600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr15:43478800-43481800	Weak transcription	Fetal Brain Male	brain
46	chr15:43478800-43481800	Enhancers	Fetal Heart	heart
47	chr15:43478800-43481800	Weak transcription	Psoas Muscle	Psoas
48	chr15:43478800-43482000	Weak transcription	HSMMtube	muscle
49	chr15:43478800-43482200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr15:43478800-43482200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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