Variant report

Variant	rs144090508
Chromosome Location	chr15:93424311-93424312
allele	-/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	GATA3	chr15:93424303-93424682	T-47D	breast:	n/a	n/a
2	EP300	chr15:93424282-93424695	T-47D	breast:	n/a	chr15:93424596-93424603
3	POLR2A	chr15:93424268-93428846	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAFK	chr15:93424140-93424340	HepG2	liver:	n/a	n/a
5	MAFF	chr15:93424242-93425688	K562	blood:	n/a	n/a
6	GATA3	chr15:93424303-93424712	T-47D	breast:	n/a	n/a
7	MAFK	chr15:93424301-93424316	HepG2	liver:	n/a	n/a
8	RFX5	chr15:93424116-93426243	SK-N-SH	brain:	n/a	chr15:93425750-93425765 chr15:93425141-93425156
9	REST	chr15:93423989-93425767	A549	lung:	n/a	chr15:93425104-93425118
10	MXI1	chr15:93423850-93428882	SK-N-SH	brain:	n/a	chr15:93425142-93425157
11	TBL1XR1	chr15:93424040-93426150	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:93385510..93388463-chr15:93423179..93425134,2	K562	blood:
2	chr15:93333327..93367027-chr15:93419774..93462750,363	K562	blood:
3	chr15:93339450..93342002-chr15:93423524..93425580,2	MCF-7	breast:
4	chr15:93344712..93371031-chr15:93418700..93467618,365	MCF-7	breast:
5	chr15:93337836..93370220-chr15:93420085..93452591,332	K562	blood:
6	chr15:93345383..93371459-chr15:93416796..93454653,318	MCF-7	breast:
7	chr15:93422990..93425055-chr15:93476703..93479164,2	K562	blood:

Variant related genes	Relation type
CHD2	TF binding region
ENSG00000272888	TF binding region
ENSG00000258527	Chromatin interaction
ENSG00000185442	Chromatin interaction
ENSG00000258922	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
3	nsv1049490	chr15:93134405-93591660	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
4	nsv530846	chr15:93323949-94030462	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
5	nsv948881	chr15:93383740-93603608	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	nsv1047496	chr15:93412778-93475878	Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
7	nsv1036560	chr15:93413594-93462163	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
8	esv3420117	chr15:93423948-93428546	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 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	chr15:93412600-93425000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:93413600-93425200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:93413800-93425200	Weak transcription	Left Ventricle	heart
4	chr15:93420000-93425200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr15:93420200-93425000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:93420200-93425000	Enhancers	Fetal Heart	heart
7	chr15:93420400-93425200	Weak transcription	Psoas Muscle	Psoas
8	chr15:93420600-93424600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr15:93421000-93424800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr15:93421400-93424400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr15:93421400-93424600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr15:93421400-93425200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:93421800-93425200	Enhancers	Placenta	Placenta
14	chr15:93421800-93426000	Weak transcription	Ovary	ovary
15	chr15:93422000-93425000	Weak transcription	Lung	lung
16	chr15:93422000-93425200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr15:93422200-93424400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr15:93422200-93424600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr15:93422200-93425000	Weak transcription	Pancreas	Pancrea
20	chr15:93422200-93425200	Weak transcription	Right Ventricle	heart
21	chr15:93422200-93426000	Weak transcription	Gastric	stomach
22	chr15:93422400-93424400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr15:93422400-93424600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr15:93422800-93424400	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr15:93422800-93424400	Enhancers	Primary B cells from cord blood	blood
26	chr15:93422800-93424600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr15:93422800-93424600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr15:93422800-93424800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr15:93423000-93424400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr15:93423000-93424400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr15:93423000-93424400	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr15:93423000-93424600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr15:93423000-93424800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr15:93423000-93425000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr15:93423200-93424400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr15:93423200-93424800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr15:93423200-93424800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr15:93423200-93424800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr15:93423200-93424800	Enhancers	Fetal Muscle Leg	muscle
40	chr15:93423200-93425000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr15:93423200-93425000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr15:93423200-93425000	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr15:93423200-93425000	Flanking Active TSS	Thymus	Thymus
44	chr15:93423200-93425200	Enhancers	H1 Cell Line	embryonic stem cell
45	chr15:93423200-93425200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr15:93423400-93424800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr15:93423400-93425000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr15:93423400-93425400	Flanking Active TSS	Dnd41	blood
49	chr15:93423400-93425600	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr15:93423600-93424400	Enhancers	Brain Hippocampus Middle	brain

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