Variant report

Variant	rs569973218
Chromosome Location	chr15:43479817-43479818
allele	A/C
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	RAD21	chr15:43479687-43480190	ECC-1	luminal epithelium:	n/a	chr15:43479946-43479965
2	RAD21	chr15:43479783-43480132	GM12878	blood:	n/a	chr15:43479946-43479965
3	RAD21	chr15:43479752-43480050	GM12878	blood:	n/a	chr15:43479946-43479965
4	CTCF	chr15:43479620-43480657	SK-N-SH	brain:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
5	RAD21	chr15:43479778-43480143	Hela-S3	cervix:	n/a	chr15:43479946-43479965
6	ZNF143	chr15:43479796-43480120	K562	blood:	n/a	n/a
7	CTCF	chr15:43479815-43480039	H1-hESC	embryonic stem cell:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
8	CTCF	chr15:43479762-43480109	T-47D	breast:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
9	RAD21	chr15:43479738-43480133	SK-N-SH_RA	brain:	n/a	chr15:43479946-43479965
10	RAD21	chr15:43479762-43480070	SK-N-SH_RA	brain:	n/a	chr15:43479946-43479965
11	RAD21	chr15:43479791-43480129	MCF-7	breast:	n/a	chr15:43479946-43479965
12	CTCF	chr15:43479702-43480056	A549	lung:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
13	CTCF	chr15:43479764-43480154	K562	blood:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
14	RAD21	chr15:43479690-43480336	SK-N-SH	brain:	n/a	chr15:43479946-43479965
15	CTCF	chr15:43479813-43480061	Spleen_OC	spleen:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
16	SMC3	chr15:43479771-43480424	GM12878	blood:	n/a	chr15:43479947-43479961
17	ZNF143	chr15:43479789-43480115	GM12878	blood:	n/a	n/a
18	CTCF	chr15:43479760-43479910	HFF-Myc	foreskin:	n/a	n/a
19	RAD21	chr15:43479697-43480171	ECC-1	luminal epithelium:	n/a	chr15:43479946-43479965
20	CTCF	chr15:43479753-43480299	IMR90	lung:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
21	RAD21	chr15:43479772-43480137	H1-hESC	embryonic stem cell:	n/a	chr15:43479946-43479965
22	CTCF	chr15:43479811-43480092	HUVEC	blood vessel:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
23	CTCF	chr15:43479815-43480076	Medullo	brain:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
24	RAD21	chr15:43479690-43480142	HCT-116	colon:	n/a	chr15:43479946-43479965
25	RAD21	chr15:43479756-43480171	IMR90	lung:	n/a	chr15:43479946-43479965
26	CTCF	chr15:43479740-43479890	HAc	cerebellar:	n/a	n/a
27	CTCF	chr15:43479778-43480084	K562	blood:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
28	MXI1	chr15:43479794-43480005	GM12878	blood:	n/a	n/a
29	RAD21	chr15:43479772-43480168	A549	lung:	n/a	chr15:43479946-43479965
30	RAD21	chr15:43479677-43480218	HCT-116	colon:	n/a	chr15:43479946-43479965
31	SMC3	chr15:43479662-43480562	SK-N-SH	brain:	n/a	chr15:43479947-43479961
32	CTCF	chr15:43479758-43480194	A549	lung:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
33	RUNX3	chr15:43479783-43480088	GM12878	blood:	n/a	n/a
34	CTCF	chr15:43479747-43480146	GM12878	blood:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
35	CTCF	chr15:43479754-43480073	MCF-7	breast:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
36	SMC3	chr15:43479777-43480118	K562	blood:	n/a	chr15:43479947-43479961
37	CTCF	chr15:43479680-43480183	MCF-7	breast:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
38	CTCF	chr15:43479725-43480031	HepG2	liver:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
39	RAD21	chr15:43479698-43480180	A549	lung:	n/a	chr15:43479946-43479965
40	CTCF	chr15:43479800-43479950	HEK293	kidney:	n/a	n/a
41	SMC3	chr15:43479780-43480116	Hela-S3	cervix:	n/a	chr15:43479947-43479961
42	RAD21	chr15:43479708-43480140	H1-hESC	embryonic stem cell:	n/a	chr15:43479946-43479965
43	SMC3	chr15:43479815-43480107	HepG2	liver:	n/a	chr15:43479947-43479961
44	RAD21	chr15:43479785-43480135	HepG2	liver:	n/a	chr15:43479946-43479965
45	RAD21	chr15:43479784-43480152	MCF-7	breast:	n/a	chr15:43479946-43479965
46	CTCF	chr15:43479748-43480185	HCT-116	colon:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
47	CTCF	chr15:43479794-43480053	LNCaP	prostate:	n/a	chr15:43479948-43479961 chr15:43479947-43479968 chr15:43479945-43479963
48	RAD21	chr15:43479797-43480182	HepG2	liver:	n/a	chr15:43479946-43479965

No.	Distal block	Cell Line	Cell type
1	chr15:43478456..43479959-chr15:43502893..43504984,2	K562	blood:
2	chr15:43476285..43479868-chr15:43558571..43560739,3	K562	blood:
3	chr15:43478839..43481750-chr15:43486043..43488157,2	K562	blood:
4	chr15:43477582..43480144-chr15:43497635..43499944,2	K562	blood:
5	chr15:43413837..43416869-chr15:43476770..43480897,4	K562	blood:
6	chr15:43212538..43214244-chr15:43477789..43479955,2	K562	blood:
7	chr15:43479061..43481710-chr15:43621878..43623729,2	K562	blood:
8	chr15:43478113..43480240-chr15:43513375..43516202,2	K562	blood:
9	chr15:43368519..43371458-chr15:43478469..43480102,2	K562	blood:

Variant related genes	Relation type
ENSG00000261687	TF binding region
CCNDBP1	TF binding region
ENSG00000128881	Chromatin interaction
ENSG00000166946	Chromatin interaction
ENSG00000168806	Chromatin interaction
ENSG00000166947	Chromatin interaction
ENSG00000261679	Chromatin interaction
ENSG00000168803	Chromatin interaction
ENSG00000137842	Chromatin interaction
ENSG00000104055	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	chr15:43478800-43480000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr15:43478800-43480200	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr15:43478800-43480400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr15:43478800-43480400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr15:43478800-43480400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr15:43478800-43480400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr15:43478800-43480400	Weak transcription	Small Intestine	intestine
20	chr15:43478800-43480400	Weak transcription	A549	lung
21	chr15:43478800-43480600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr15:43478800-43480800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr15:43478800-43480800	Genic enhancers	Primary B cells from peripheral blood	blood
24	chr15:43478800-43480800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr15:43478800-43481200	Weak transcription	Fetal Muscle Leg	muscle
26	chr15:43478800-43481200	Weak transcription	Thymus	Thymus
27	chr15:43478800-43481400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr15:43478800-43481400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr15:43478800-43481400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr15:43478800-43481400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:43478800-43481400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr15:43478800-43481400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr15:43478800-43481400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr15:43478800-43481400	Weak transcription	Fetal Thymus	thymus
35	chr15:43478800-43481400	Weak transcription	HSMM	muscle
36	chr15:43478800-43481400	Weak transcription	HUVEC	blood vessel
37	chr15:43478800-43481600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr15:43478800-43481600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr15:43478800-43481600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr15:43478800-43481600	Weak transcription	Aorta	Aorta
41	chr15:43478800-43481600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr15:43478800-43481600	Weak transcription	Fetal Stomach	stomach
43	chr15:43478800-43481600	Weak transcription	Left Ventricle	heart
44	chr15:43478800-43481600	Weak transcription	Right Ventricle	heart
45	chr15:43478800-43481600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr15:43478800-43481800	Weak transcription	Fetal Brain Male	brain
47	chr15:43478800-43481800	Enhancers	Fetal Heart	heart
48	chr15:43478800-43481800	Weak transcription	Psoas Muscle	Psoas
49	chr15:43478800-43482000	Weak transcription	HSMMtube	muscle
50	chr15:43478800-43482200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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