Variant report

Variant	rs569742224
Chromosome Location	chr15:92936479-92936480
allele	G/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	chr15:92936271-92938347	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr15:92936463-92938759	H1-hESC	embryonic stem cell:	n/a	chr15:92938512-92938521 chr15:92937667-92937677 chr15:92936907-92936917 chr15:92938011-92938021 chr15:92937571-92937581
3	SIN3A	chr15:92936277-92938776	H1-hESC	embryonic stem cell:	n/a	chr15:92936363-92936376 chr15:92936514-92936523 chr15:92938276-92938290 chr15:92938301-92938312 chr15:92937586-92937597 chr15:92936394-92936403
4	TAF1	chr15:92936425-92938207	H1-neurons	neurons:	n/a	n/a
5	ZNF143	chr15:92936441-92936990	H1-hESC	embryonic stem cell:	n/a	chr15:92936806-92936816
6	REST	chr15:92936233-92936537	H1-hESC	embryonic stem cell:	n/a	chr15:92936368-92936382 chr15:92936459-92936472 chr15:92936459-92936472
7	CTBP2	chr15:92936285-92937466	H1-hESC	embryonic stem cell:	n/a	n/a
8	REST	chr15:92936208-92936536	H1-hESC	embryonic stem cell:	n/a	chr15:92936368-92936382 chr15:92936459-92936472 chr15:92936459-92936472
9	CHD2	chr15:92936414-92936773	H1-hESC	embryonic stem cell:	n/a	n/a
10	REST	chr15:92936299-92939165	H1-neurons	neurons:	n/a	chr15:92936368-92936382 chr15:92938299-92938312 chr15:92937734-92937747 chr15:92939053-92939073 chr15:92936459-92936472 chr15:92938397-92938410 chr15:92937215-92937228 chr15:92936459-92936472
11	POLR2A	chr15:92936281-92938278	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr15:92936218-92938920	H1-neurons	neurons:	n/a	n/a
13	GATA2	chr15:92936237-92936823	SH-SY5Y	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:92936465-92936515	MCF10A-Er-Src	breast:	n/a
2	chr15:92936465-92936515	HPAEpiC	pulmonary alveolar:	n/a
3	chr15:92936465-92936515	ovcar-3	ovarian:	n/a
4	chr15:92936465-92936515	Jurkat	blood:	n/a
5	chr15:92936465-92936515	ProgFib	skin:	n/a
6	chr15:92936465-92936515	AG09309	skin:	n/a
7	chr15:92936465-92936515	H1-hESC	embryonic stem cell:	embryo
8	chr15:92936465-92936515	HMEC	breast:	n/a
9	chr15:92936465-92936515	HNPCEpiC	eye:	n/a
10	chr15:92936465-92936515	HIPEpiC	eye:	n/a
11	chr15:92936465-92936515	AG10803	skin:	n/a
12	chr15:92936465-92936515	HRE	kidney:	n/a
13	chr15:92936465-92936515	GM12892	blood:	n/a
14	chr15:92936465-92936515	SK-N-MC	brain:	n/a
15	chr15:92936465-92936515	AG04449	skin:	fetal
16	chr15:92936465-92936515	ECC-1	luminal epithelium:	n/a
17	chr15:92936465-92936515	PFSK-1	brain:	n/a
18	chr15:92936465-92936515	GM06990	blood:	n/a
19	chr15:92936465-92936515	BJ	skin:	n/a
20	chr15:92936465-92936515	T-47D	breast:	n/a
21	chr15:92936465-92936515	GM12891	blood:	n/a
22	chr15:92936465-92936515	HCF	heart:	n/a
23	chr15:92936465-92936515	NH-A	brain:	n/a
24	chr15:92936465-92936515	GM12878	blood:	n/a
25	chr15:92936465-92936515	SK-N-SH	brain:	n/a
26	chr15:92936465-92936515	NB4	blood:	n/a
27	chr15:92936465-92936515	CMK	blood:	n/a
28	chr15:92936465-92936515	A549	lung:	n/a
29	chr15:92936465-92936515	Caco-2	colon:	n/a
30	chr15:92936465-92936515	GM19239	blood:	n/a
31	chr15:92936465-92936515	U87	brain:	n/a
32	chr15:92936465-92936515	AG09319	gingival:	n/a
33	chr15:92936465-92936515	RPTEC	kidney:	n/a
34	chr15:92936465-92936515	PANC-1	pancreas:	n/a
35	chr15:92936465-92936515	HEK293	kidney:	embryo
36	chr15:92936465-92936515	HAEpiC	amniotic membrane:	n/a
37	chr15:92936465-92936515	BE2_C	brain:	n/a
38	chr15:92936465-92936515	LNCaP	prostate:	n/a
39	chr15:92936465-92936515	PrEC	prostate:	n/a
40	chr15:92936465-92936515	HCPEpiC	choroid plexus:	n/a
41	chr15:92936465-92936515	SKMC	muscle:	n/a
42	chr15:92936465-92936515	HepG2	liver:	n/a
43	chr15:92936465-92936515	K562	blood:	n/a
44	chr15:92936465-92936515	HUVEC	blood vessel:	n/a
45	chr15:92936465-92936515	HL-60	blood:	n/a
46	chr15:92936465-92936515	HRPEpiC	eye:	n/a
47	chr15:92936465-92936515	NHDF-neo	bronchial:	n/a
48	chr15:92936465-92936515	Hela-S3	cervix:	n/a
49	chr15:92936465-92936515	Hepatocyte	liver:	n/a
50	chr15:92936465-92936515	AoSMC	blood vessel:	n/a

Variant related genes	Relation type
ST8SIA2	TF binding region
ST8SIA2	CpG island

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948621	chr15:92688981-93158095	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1049561	chr15:92758434-93097965	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1037972	chr15:92804908-93270761	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv904499	chr15:92914795-93472582	Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	163 gene(s)	inside rSNPs	diseases
5	esv3393959	chr15:92935948-92939196	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92935400-92936600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr15:92935400-92936600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
3	chr15:92935400-92936600	Flanking Active TSS	Brain Germinal Matrix	brain
4	chr15:92935400-92938400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr15:92935400-92938800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr15:92935600-92936600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr15:92935600-92936600	Flanking Active TSS	Fetal Brain Female	brain
8	chr15:92935600-92936600	Bivalent Enhancer	NHDF-Ad	bronchial
9	chr15:92935600-92936800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chr15:92935800-92936800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr15:92935800-92936800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:92935800-92938800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr15:92936200-92936600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
14	chr15:92936200-92936600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr15:92936200-92936600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:92936200-92936600	Bivalent Enhancer	A549	lung
17	chr15:92936200-92936800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr15:92936200-92936800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr15:92936200-92936800	Enhancers	Fetal Heart	heart
20	chr15:92936200-92938600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr15:92936200-92939400	Active TSS	HSMM	muscle
22	chr15:92936400-92936600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
23	chr15:92936400-92936600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr15:92936400-92936600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:92936400-92936600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
26	chr15:92936400-92936600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
27	chr15:92936400-92936600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
28	chr15:92936400-92936600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr15:92936400-92936600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
30	chr15:92936400-92936600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr15:92936400-92936600	Bivalent Enhancer	Fetal Intestine Large	intestine
32	chr15:92936400-92936600	Bivalent Enhancer	Fetal Intestine Small	intestine
33	chr15:92936400-92936600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
34	chr15:92936400-92936600	Bivalent Enhancer	Thymus	Thymus
35	chr15:92936400-92936600	Flanking Active TSS	HSMMtube	muscle
36	chr15:92936400-92936800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr15:92936400-92936800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr15:92936400-92936800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr15:92936400-92936800	Flanking Active TSS	Fetal Brain Male	brain
40	chr15:92936400-92936800	Flanking Bivalent TSS/Enh	Fetal Lung	lung
41	chr15:92936400-92936800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
42	chr15:92936400-92936800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
43	chr15:92936400-92936800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
44	chr15:92936400-92937000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr15:92936400-92937000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:92936400-92937000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
47	chr15:92936400-92937000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
48	chr15:92936400-92937000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
49	chr15:92936400-92937000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
50	chr15:92936400-92938200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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