Variant report

Variant	rs538485162
Chromosome Location	chr15:59729588-59729589
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr15:59729585-59730996	ECC-1	luminal epithelium:	n/a	chr15:59730613-59730623
2	MTA3	chr15:59729471-59730302	GM12878	blood:	n/a	n/a
3	MXI1	chr15:59729481-59731090	SK-N-SH	brain:	n/a	chr15:59730227-59730242 chr15:59730225-59730240
4	MAX	chr15:59729565-59731594	A549	lung:	n/a	chr15:59730613-59730623
5	ZEB1	chr15:59729371-59729933	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:59729553-59729603	NB4	blood:	n/a
2	chr15:59729553-59729603	GM12878	blood:	n/a
3	chr15:59729553-59729603	SK-N-SH_RA	brain:	n/a
4	chr15:59729553-59729603	IMR90	lung:	fetal
5	chr15:59729553-59729603	NHBE	bronchial:	n/a
6	chr15:59729553-59729603	HL-60	blood:	n/a
7	chr15:59729553-59729603	HAEpiC	amniotic membrane:	n/a
8	chr15:59729553-59729603	PFSK-1	brain:	n/a
9	chr15:59729553-59729603	K562	blood:	n/a
10	chr15:59729553-59729603	SK-N-SH	brain:	n/a
11	chr15:59729553-59729603	HCPEpiC	choroid plexus:	n/a
12	chr15:59729553-59729603	GM12891	blood:	n/a
13	chr15:59729553-59729603	GM06990	blood:	n/a
14	chr15:59729553-59729603	BE2_C	brain:	n/a
15	chr15:59729553-59729603	Hela-S3	cervix:	n/a
16	chr15:59729553-59729603	AoSMC	blood vessel:	n/a
17	chr15:59729553-59729603	NH-A	brain:	n/a
18	chr15:59729553-59729603	AG09309	skin:	n/a
19	chr15:59729553-59729603	HCT-116	colon:	n/a
20	chr15:59729553-59729603	AG09319	gingival:	n/a
21	chr15:59729553-59729603	ovcar-3	ovarian:	n/a
22	chr15:59729553-59729603	HRPEpiC	eye:	n/a
23	chr15:59729553-59729603	ECC-1	luminal epithelium:	n/a
24	chr15:59729553-59729603	A549	lung:	n/a
25	chr15:59729553-59729603	HEK293	kidney:	embryo
26	chr15:59729553-59729603	HCF	heart:	n/a
27	chr15:59729553-59729603	LNCaP	prostate:	n/a
28	chr15:59729553-59729603	PANC-1	pancreas:	n/a
29	chr15:59729553-59729603	NHDF-neo	bronchial:	n/a
30	chr15:59729553-59729603	HEEpiC	esophagus:	n/a
31	chr15:59729553-59729603	BJ	skin:	n/a
32	chr15:59729553-59729603	ProgFib	skin:	n/a
33	chr15:59729553-59729603	GM19239	blood:	n/a
34	chr15:59729553-59729603	CMK	blood:	n/a
35	chr15:59729553-59729603	RPTEC	kidney:	n/a
36	chr15:59729553-59729603	HPAEpiC	pulmonary alveolar:	n/a
37	chr15:59729553-59729603	AG04450	lung:	fetal
38	chr15:59729553-59729603	NT2-D1	testis:	n/a
39	chr15:59729553-59729603	GM12892	blood:	n/a
40	chr15:59729553-59729603	HMEC	breast:	n/a
41	chr15:59729553-59729603	SK-N-MC	brain:	n/a
42	chr15:59729553-59729603	PrEC	prostate:	n/a
43	chr15:59729553-59729603	MCF10A-Er-Src	breast:	n/a
44	chr15:59729553-59729603	HUVEC	blood vessel:	n/a
45	chr15:59729553-59729603	Caco-2	colon:	n/a
46	chr15:59729553-59729603	HRCEpiC	kidney:	n/a
47	chr15:59729553-59729603	AG10803	skin:	n/a
48	chr15:59729553-59729603	Jurkat	blood:	n/a
49	chr15:59729553-59729603	H1-hESC	embryonic stem cell:	embryo
50	chr15:59729553-59729603	HepG2	liver:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:59662898..59664919-chr15:59728478..59730904,2	MCF-7	breast:

No data

Variant related genes	Relation type
FAM81A	TF binding region
FAM81A	CpG island
ENSG00000157483	Chromatin interaction
ENSG00000157470	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	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
2	nsv934082	chr15:59608605-59733211	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv904276	chr15:59648633-59743010	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
4	nsv904278	chr15:59705005-59784648	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv569604	chr15:59729257-59730930	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
6	esv21135	chr15:59729524-59730974	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59728800-59729600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
2	chr15:59728800-59729600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:59728800-59729800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:59728800-59731800	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr15:59729000-59729600	Bivalent Enhancer	Primary B cells from cord blood	blood
6	chr15:59729000-59729600	Bivalent Enhancer	Fetal Stomach	stomach
7	chr15:59729000-59729600	Enhancers	HSMMtube	muscle
8	chr15:59729000-59729600	Bivalent Enhancer	NHDF-Ad	bronchial
9	chr15:59729000-59729800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
10	chr15:59729000-59729800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr15:59729000-59730000	Enhancers	Spleen	Spleen
12	chr15:59729200-59729600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr15:59729200-59729600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr15:59729200-59729600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr15:59729200-59729600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
16	chr15:59729200-59729600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
17	chr15:59729200-59729600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
18	chr15:59729200-59729600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
19	chr15:59729200-59729600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
20	chr15:59729200-59729600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
21	chr15:59729200-59729600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:59729200-59729600	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr15:59729200-59729600	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr15:59729200-59729600	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr15:59729200-59729600	Bivalent Enhancer	Stomach Mucosa	stomach
26	chr15:59729200-59729600	Enhancers	Hela-S3	cervix
27	chr15:59729200-59729600	Bivalent Enhancer	HepG2	liver
28	chr15:59729200-59729800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
29	chr15:59729200-59729800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
30	chr15:59729200-59729800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
31	chr15:59729200-59730000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
32	chr15:59729200-59730000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
33	chr15:59729200-59730000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr15:59729200-59730000	Flanking Active TSS	Brain Cingulate Gyrus	brain
35	chr15:59729200-59730000	Flanking Active TSS	Colon Smooth Muscle	Colon
36	chr15:59729200-59730000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
37	chr15:59729200-59730000	Flanking Active TSS	Fetal Brain Male	brain
38	chr15:59729200-59730000	Flanking Active TSS	Right Ventricle	heart
39	chr15:59729200-59730000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr15:59729200-59730000	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr15:59729200-59730200	Flanking Active TSS	GM12878-XiMat	blood
42	chr15:59729200-59730800	Active TSS	Aorta	Aorta
43	chr15:59729200-59730800	Active TSS	Right Atrium	heart
44	chr15:59729200-59731000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
45	chr15:59729200-59731000	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr15:59729200-59731400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
47	chr15:59729400-59729600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr15:59729400-59729600	Bivalent Enhancer	Primary T cells from cord blood	blood
49	chr15:59729400-59729600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
50	chr15:59729400-59729600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--

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