Variant report

Variant	rs59522599
Chromosome Location	chr15:59279358-59279359
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr15:59279307-59281158	GM12878	blood:	n/a	chr15:59279749-59279759
2	CEBPB	chr15:59279358-59279915	Hela-S3	cervix:	n/a	n/a
3	TCF12	chr15:59279180-59280835	A549	lung:	n/a	n/a
4	HCFC1	chr15:59279025-59281483	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr15:59279339-59280711	PBDE	blood:	n/a	n/a
6	MAZ	chr15:59279266-59280471	Hela-S3	cervix:	n/a	chr15:59279749-59279759
7	FOXA1	chr15:59279242-59279543	HepG2	liver:	n/a	n/a
8	POLR2A	chr15:59279212-59280732	IMR90	lung:	n/a	n/a
9	ARID3A	chr15:59279182-59279886	K562	blood:	n/a	n/a
10	GATA1	chr15:59279136-59280118	PBDE	blood:	n/a	chr15:59279347-59279363
11	MXI1	chr15:59279333-59280839	Hela-S3	cervix:	n/a	n/a
12	MXI1	chr15:59278859-59282108	SK-N-SH	brain:	n/a	n/a
13	REST	chr15:59279194-59281122	H1-neurons	neurons:	n/a	n/a
14	BRCA1	chr15:59279317-59280090	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr15:59279351-59280729	U87	brain:	n/a	n/a
16	EP300	chr15:59279264-59281096	K562	blood:	n/a	n/a
17	TBP	chr15:59279226-59280213	Hela-S3	cervix:	n/a	n/a
18	MYC	chr15:59279282-59280776	K562	blood:	n/a	chr15:59279749-59279759
19	REST	chr15:59279335-59280527	A549	lung:	n/a	n/a
20	ZMIZ1	chr15:59279112-59280795	K562	blood:	n/a	n/a
21	JUND	chr15:59279294-59280784	K562	blood:	n/a	n/a
22	ARID3A	chr15:59279256-59280574	HepG2	liver:	n/a	n/a
23	MXI1	chr15:59279311-59280961	GM12878	blood:	n/a	n/a
24	GATA3	chr15:59279347-59280758	A549	lung:	n/a	chr15:59279347-59279363
25	CUX1	chr15:59279287-59279745	K562	blood:	n/a	n/a
26	RCOR1	chr15:59279314-59280783	K562	blood:	n/a	n/a
27	POLR2A	chr15:59279357-59280706	U87	brain:	n/a	n/a
28	FOXA2	chr15:59279224-59279501	A549	lung:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:59223432..59227292-chr15:59278800..59280721,3	K562	blood:
2	chr15:59278921..59283219-chr15:59397062..59399778,7	K562	blood:
3	chr15:59223432..59227578-chr15:59278800..59283796,7	K562	blood:
4	chr15:59277958..59282108-chr15:59396207..59399778,7	K562	blood:

No data

Variant related genes	Relation type
RNF111	TF binding region
ENSG00000137776	Chromatin interaction
ENSG00000157456	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs55985652	1.00[EUR][1000 genomes]
rs61729219	1.00[EUR][1000 genomes]
rs7183956	1.00[EUR][1000 genomes]
rs74021006	1.00[EUR][1000 genomes]
rs74021007	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
3	esv1850946	chr15:59174539-59429160	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	nsv904271	chr15:59249584-59393011	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv520679	chr15:59268410-59376531	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv520872	chr15:59268410-59395184	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59277600-59279400	Weak transcription	Small Intestine	intestine
2	chr15:59278800-59281400	Active TSS	Psoas Muscle	Psoas
3	chr15:59279000-59279400	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr15:59279000-59279400	Flanking Active TSS	A549	lung
5	chr15:59279000-59279400	Enhancers	HSMMtube	muscle
6	chr15:59279000-59279600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr15:59279000-59279600	Flanking Active TSS	Hela-S3	cervix
8	chr15:59279000-59280400	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr15:59279000-59281200	Active TSS	Rectal Mucosa Donor 31	rectum
10	chr15:59279000-59281400	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr15:59279000-59281400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr15:59279000-59281400	Active TSS	Stomach Smooth Muscle	stomach
13	chr15:59279000-59281800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr15:59279000-59281800	Active TSS	K562	blood
15	chr15:59279200-59279400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr15:59279200-59279400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:59279200-59279400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr15:59279200-59279400	Enhancers	Primary B cells from peripheral blood	blood
19	chr15:59279200-59279400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr15:59279200-59279400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr15:59279200-59279400	Enhancers	Fetal Heart	heart
22	chr15:59279200-59279400	Flanking Active TSS	Fetal Muscle Leg	muscle
23	chr15:59279200-59279400	Flanking Active TSS	Placenta	Placenta
24	chr15:59279200-59279400	Flanking Active TSS	Fetal Thymus	thymus
25	chr15:59279200-59279400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr15:59279200-59279400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr15:59279200-59279400	Flanking Active TSS	Rectal Smooth Muscle	rectum
28	chr15:59279200-59279400	Flanking Active TSS	Stomach Mucosa	stomach
29	chr15:59279200-59279400	Flanking Active TSS	GM12878-XiMat	blood
30	chr15:59279200-59279400	Active TSS	HepG2	liver
31	chr15:59279200-59279400	Enhancers	HSMM	muscle
32	chr15:59279200-59279600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr15:59279200-59279600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr15:59279200-59279600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
35	chr15:59279200-59279600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr15:59279200-59279600	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr15:59279200-59279600	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr15:59279200-59279600	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr15:59279200-59279600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr15:59279200-59279600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr15:59279200-59279600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr15:59279200-59279600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr15:59279200-59279600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr15:59279200-59279600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr15:59279200-59279600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr15:59279200-59279600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr15:59279200-59279600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr15:59279200-59279600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr15:59279200-59279600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr15:59279200-59279600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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