Variant report

Variant	rs146457413
Chromosome Location	chr15:40763849-40763850
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:129)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:129 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:40762819-40764132	GM19099	blood:	n/a	n/a
2	EP300	chr15:40763805-40764696	T-47D	breast:	n/a	n/a
3	CTCF	chr15:40763760-40763910	GM06990	blood:	n/a	n/a
4	YY1	chr15:40762790-40763947	HepG2	liver:	n/a	chr15:40763383-40763397 chr15:40763242-40763256
5	POLR2A	chr15:40762860-40764157	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr15:40763665-40764027	GM12878	blood:	n/a	n/a
7	MAX	chr15:40762397-40764353	HepG2	liver:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
8	POLR2A	chr15:40763741-40764168	H1-hESC	embryonic stem cell:	n/a	n/a
9	PML	chr15:40763770-40764207	K562	blood:	n/a	n/a
10	ZBTB7A	chr15:40762423-40764538	ECC-1	luminal epithelium:	n/a	n/a
11	TAF1	chr15:40763660-40764010	K562	blood:	n/a	n/a
12	CTCF	chr15:40763798-40763865	GM12892	blood:	n/a	n/a
13	UBTF	chr15:40763703-40764261	K562	blood:	n/a	n/a
14	POLR2A	chr15:40762156-40764091	GM12892	blood:	n/a	n/a
15	CTCF	chr15:40763847-40763974	GM12891	blood:	n/a	n/a
16	YY1	chr15:40763745-40764181	K562	blood:	n/a	n/a
17	POLR2A	chr15:40763512-40764224	HepG2	liver:	n/a	n/a
18	ZNF143	chr15:40763689-40763896	GM12878	blood:	n/a	n/a
19	E2F6	chr15:40763819-40763993	K562	blood:	n/a	n/a
20	MAX	chr15:40763482-40764607	MCF-7	breast:	n/a	n/a
21	TEAD4	chr15:40763707-40764370	K562	blood:	n/a	n/a
22	GATA3	chr15:40763829-40764645	T-47D	breast:	n/a	n/a
23	POLR2A	chr15:40762124-40764649	HepG2	liver:	n/a	n/a
24	EBF1	chr15:40763450-40764010	GM12878	blood:	n/a	n/a
25	YY1	chr15:40763343-40763946	K562	blood:	n/a	chr15:40763383-40763397
26	POLR2A	chr15:40762868-40764182	GM18526	blood:	n/a	n/a
27	POLR2A	chr15:40762815-40764611	MCF-7	breast:	n/a	n/a
28	CCNT2	chr15:40762681-40763928	K562	blood:	n/a	chr15:40763395-40763404
29	HDAC2	chr15:40763775-40764072	K562	blood:	n/a	n/a
30	POLR2A	chr15:40762658-40764624	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr15:40762787-40764137	Gliobla	brain:	n/a	n/a
32	POLR2A	chr15:40763511-40764071	GM12878	blood:	n/a	n/a
33	HCFC1	chr15:40763843-40763986	K562	blood:	n/a	n/a
34	MAX	chr15:40763515-40764088	A549	lung:	n/a	n/a
35	POLR2A	chr15:40762116-40764390	K562	blood:	n/a	n/a
36	EP300	chr15:40763687-40764651	T-47D	breast:	n/a	n/a
37	POLR2A	chr15:40763700-40764063	GM12891	blood:	n/a	n/a
38	ZNF143	chr15:40763701-40763900	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr15:40763447-40763995	GM12891	blood:	n/a	n/a
40	SIN3A	chr15:40763482-40764405	H1-hESC	embryonic stem cell:	n/a	n/a
41	HEY1	chr15:40763715-40764080	K562	blood:	n/a	n/a
42	MAX	chr15:40762529-40764286	NB4	blood:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
43	POLR2A	chr15:40763555-40764026	GM12892	blood:	n/a	n/a
44	YY1	chr15:40763304-40764434	ECC-1	luminal epithelium:	n/a	chr15:40763383-40763397
45	MAX	chr15:40763351-40764264	K562	blood:	n/a	n/a
46	EBF1	chr15:40763630-40763952	GM12878	blood:	n/a	n/a
47	EBF1	chr15:40763578-40764406	GM12878	blood:	n/a	n/a
48	MXI1	chr15:40763647-40764178	GM12878	blood:	n/a	n/a
49	HMGN3	chr15:40762706-40764544	K562	blood:	n/a	chr15:40763039-40763048
50	POLR2A	chr15:40762739-40764747	MCF-7	breast:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:40731621..40739951-chr15:40753297..40765462,23	K562	blood:
2	chr15:40763768..40766540-chr15:40784281..40786409,2	K562	blood:
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	chr15:40763301..40766173-chr15:40861522..40864181,2	K562	blood:
7	chr15:40731823..40734826-chr15:40760868..40766207,7	K562	blood:
8	chr15:40761396..40764374-chr15:40800140..40802676,2	K562	blood:
9	chr15:40763466..40765784-chr15:40773295..40775990,2	MCF-7	breast:
10	chr15:40749483..40752811-chr15:40761476..40764713,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259211	TF binding region
ENSG00000259536	Chromatin interaction
ENSG00000166133	Chromatin interaction
ENSG00000259364	Chromatin interaction
ENSG00000244251	Chromatin interaction
ENSG00000187837	Chromatin interaction
ENSG00000140320	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40762200-40764400	Active TSS	Fetal Kidney	kidney
2	chr15:40762600-40764000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr15:40762600-40764000	Active TSS	Fetal Intestine Large	intestine
4	chr15:40762600-40764200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr15:40762600-40764200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:40762600-40764200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
7	chr15:40762600-40764200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr15:40762600-40764200	Active TSS	Ovary	ovary
9	chr15:40762600-40764200	Active TSS	Psoas Muscle	Psoas
10	chr15:40762600-40764600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr15:40762600-40764600	Active TSS	Fetal Brain Female	brain
12	chr15:40762800-40764000	Active TSS	Brain Angular Gyrus	brain
13	chr15:40762800-40764000	Active TSS	Brain Cingulate Gyrus	brain
14	chr15:40762800-40764000	Active TSS	Brain Substantia Nigra	brain
15	chr15:40762800-40764000	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr15:40762800-40764000	Active TSS	Gastric	stomach
17	chr15:40762800-40764000	Active TSS	Left Ventricle	heart
18	chr15:40762800-40764000	Active TSS	Small Intestine	intestine
19	chr15:40762800-40764000	Active TSS	Thymus	Thymus
20	chr15:40762800-40764000	Active TSS	HSMMtube	muscle
21	chr15:40762800-40764000	Active TSS	NHLF	lung
22	chr15:40762800-40764200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr15:40762800-40764200	Active TSS	Aorta	Aorta
24	chr15:40762800-40764200	Active TSS	Brain Anterior Caudate	brain
25	chr15:40762800-40764200	Active TSS	Colon Smooth Muscle	Colon
26	chr15:40762800-40764400	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr15:40762800-40764600	Active TSS	H9 Cell Line	embryonic stem cell
28	chr15:40763000-40764000	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr15:40763000-40764000	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr15:40763000-40764000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr15:40763000-40764000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr15:40763000-40764000	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr15:40763000-40764000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr15:40763000-40764000	Active TSS	Right Ventricle	heart
35	chr15:40763000-40764200	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr15:40763000-40764200	Active TSS	A549	lung
37	chr15:40763000-40764200	Active TSS	NHDF-Ad	bronchial
38	chr15:40763000-40764400	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr15:40763000-40764600	Active TSS	Rectal Smooth Muscle	rectum
40	chr15:40763000-40770200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr15:40763400-40764000	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr15:40763400-40764000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr15:40763400-40764200	Active TSS	Spleen	Spleen
44	chr15:40763400-40764400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr15:40763400-40764800	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr15:40763600-40764000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr15:40763600-40764000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
48	chr15:40763600-40764000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
49	chr15:40763600-40764000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr15:40763600-40764000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin

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