Variant report

Variant	rs569976002
Chromosome Location	chr15:40762974-40762975
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	POLR2A	chr15:40762249-40763049	H1-hESC	embryonic stem cell:	n/a	n/a
2	ELF1	chr15:40762753-40763288	K562	blood:	n/a	chr15:40763055-40763066
3	CTCF	chr15:40762920-40763070	GM12872	blood:	n/a	chr15:40763050-40763063
4	RAD21	chr15:40762903-40763078	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr15:40762819-40764132	GM19099	blood:	n/a	n/a
6	ELF1	chr15:40762852-40763120	A549	lung:	n/a	chr15:40763055-40763066
7	CTCF	chr15:40762920-40763070	Caco-2	colon:	n/a	chr15:40763050-40763063
8	EGR1	chr15:40762923-40763309	ECC-1	luminal epithelium:	n/a	chr15:40763166-40763180 chr15:40763136-40763150 chr15:40763119-40763133
9	GABPA	chr15:40762965-40763293	HepG2	liver:	n/a	n/a
10	YY1	chr15:40762790-40763947	HepG2	liver:	n/a	chr15:40763383-40763397 chr15:40763242-40763256
11	POLR2A	chr15:40762860-40764157	HUVEC	blood vessel:	n/a	n/a
12	ELF1	chr15:40762813-40763241	HepG2	liver:	n/a	chr15:40763055-40763066
13	CTCF	chr15:40762920-40763070	WERI-Rb-1	eye:	n/a	chr15:40763050-40763063
14	MAX	chr15:40762397-40764353	HepG2	liver:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
15	POLR2A	chr15:40762822-40763306	HUVEC	blood vessel:	n/a	n/a
16	ZBTB7A	chr15:40762793-40763294	K562	blood:	n/a	n/a
17	MAX	chr15:40762597-40763219	H1-hESC	embryonic stem cell:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
18	POLR2A	chr15:40762141-40763161	GM12891	blood:	n/a	n/a
19	CTCF	chr15:40762966-40763114	GM12891	blood:	n/a	chr15:40763050-40763063
20	ZBTB7A	chr15:40762423-40764538	ECC-1	luminal epithelium:	n/a	n/a
21	CEBPD	chr15:40762892-40763277	HepG2	liver:	n/a	n/a
22	HEY1	chr15:40762834-40763179	HepG2	liver:	n/a	n/a
23	POLR2A	chr15:40762156-40764091	GM12892	blood:	n/a	n/a
24	MAX	chr15:40762524-40763308	K562	blood:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
25	MAZ	chr15:40762842-40763191	HepG2	liver:	n/a	chr15:40763164-40763174
26	ELF1	chr15:40762799-40763275	SK-N-SH	brain:	n/a	chr15:40763055-40763066
27	GABPA	chr15:40762643-40763052	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr15:40762275-40763451	MCF-7	breast:	n/a	n/a
29	CTCF	chr15:40762920-40763070	GM12874	blood:	n/a	chr15:40763050-40763063
30	POLR2A	chr15:40762785-40763300	HepG2	liver:	n/a	n/a
31	CTCF	chr15:40762940-40763090	SK-N-SH_RA	brain:	n/a	chr15:40763050-40763063
32	CTCF	chr15:40762900-40763050	K562	blood:	n/a	n/a
33	POLR2A	chr15:40762146-40763153	GM12892	blood:	n/a	n/a
34	GABPA	chr15:40762936-40763351	MCF-7	breast:	n/a	n/a
35	MTA3	chr15:40762459-40763191	GM12878	blood:	n/a	n/a
36	MAX	chr15:40762502-40763210	HepG2	liver:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
37	CREB1	chr15:40762950-40763308	A549	lung:	n/a	n/a
38	POLR2A	chr15:40762787-40763650	A549	lung:	n/a	n/a
39	RUNX3	chr15:40762734-40763154	GM12878	blood:	n/a	n/a
40	MAX	chr15:40762752-40763213	Hela-S3	cervix:	n/a	chr15:40763164-40763174
41	IRF1	chr15:40762910-40763260	K562	blood:	n/a	chr15:40762937-40762946
42	MYBL2	chr15:40762684-40763158	HepG2	liver:	n/a	n/a
43	SIN3AK20	chr15:40762622-40763170	H1-hESC	embryonic stem cell:	n/a	n/a
44	UBTF	chr15:40762794-40763158	K562	blood:	n/a	n/a
45	CTCF	chr15:40762966-40763090	K562	blood:	n/a	chr15:40763050-40763063
46	POLR2A	chr15:40762124-40764649	HepG2	liver:	n/a	n/a
47	E2F6	chr15:40762791-40763316	K562	blood:	n/a	n/a
48	TBP	chr15:40762895-40763055	K562	blood:	n/a	n/a
49	POLR2A	chr15:40762868-40764182	GM18526	blood:	n/a	n/a
50	POLR2A	chr15:40762815-40764611	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:40731621..40739951-chr15:40753297..40765462,23	K562	blood:
2	chr15:40757114..40759999-chr15:40761935..40763724,3	MCF-7	breast:
3	chr15:40746042..40747567-chr15:40761663..40764195,2	MCF-7	breast:
4	chr15:40761789..40767637-chr15:40797359..40801640,7	K562	blood:
5	chr15:40762952..40763883-chr6:26056601..26057141,2	NB4	blood:
6	chr15:40731794..40734704-chr15:40761511..40763222,2	MCF-7	breast:
7	chr15:40731823..40734826-chr15:40760868..40766207,7	K562	blood:
8	chr15:40761396..40764374-chr15:40800140..40802676,2	K562	blood:
9	chr15:40749483..40752811-chr15:40761476..40764713,3	MCF-7	breast:

Variant related genes	Relation type
CHST14	TF binding region
ENSG00000259211	TF binding region
ENSG00000187837	Chromatin interaction
ENSG00000259211	Chromatin interaction
ENSG00000259536	Chromatin interaction
ENSG00000140320	Chromatin interaction
ENSG00000259364	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv3373294	chr15:40762085-40765033	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv3525241	chr15:40762460-40764458	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	esv3525242	chr15:40762460-40764458	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40759400-40763400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr15:40761600-40763800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr15:40761800-40763000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr15:40762000-40763000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr15:40762200-40763000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr15:40762200-40763000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr15:40762200-40763000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr15:40762200-40763000	Enhancers	Fetal Heart	heart
9	chr15:40762200-40763200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr15:40762200-40764400	Active TSS	Fetal Kidney	kidney
11	chr15:40762400-40763000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:40762400-40763000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr15:40762400-40763000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr15:40762400-40763000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr15:40762400-40763000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:40762400-40763000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr15:40762400-40763000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr15:40762400-40763000	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr15:40762400-40763000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr15:40762400-40763000	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr15:40762400-40763000	Flanking Active TSS	Liver	Liver
22	chr15:40762400-40763000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr15:40762400-40763000	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr15:40762400-40763000	Flanking Active TSS	Fetal Intestine Small	intestine
25	chr15:40762400-40763000	Flanking Active TSS	Fetal Lung	lung
26	chr15:40762400-40763000	Flanking Active TSS	Fetal Muscle Trunk	muscle
27	chr15:40762400-40763000	Flanking Active TSS	Fetal Muscle Leg	muscle
28	chr15:40762400-40763000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr15:40762400-40763000	Flanking Active TSS	Rectal Smooth Muscle	rectum
30	chr15:40762400-40763000	Flanking Active TSS	Right Ventricle	heart
31	chr15:40762400-40763000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr15:40762400-40763000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr15:40762400-40763000	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr15:40762400-40763000	Flanking Active TSS	Hela-S3	cervix
35	chr15:40762400-40763000	Flanking Active TSS	HepG2	liver
36	chr15:40762400-40763000	Flanking Active TSS	NHDF-Ad	bronchial
37	chr15:40762400-40763000	Flanking Active TSS	Osteobl	bone
38	chr15:40762600-40763000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
39	chr15:40762600-40763000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr15:40762600-40763000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr15:40762600-40763000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr15:40762600-40763000	Flanking Active TSS	Primary B cells from peripheral blood	blood
43	chr15:40762600-40763000	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr15:40762600-40763000	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr15:40762600-40763000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr15:40762600-40763000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr15:40762600-40763000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr15:40762600-40763000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr15:40762600-40763000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr15:40762600-40763000	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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