Variant report

Variant	rs140401139
Chromosome Location	chr15:93424696-93424697
allele	A/G
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	chr15:93424491-93428698	GM12891	blood:	n/a	n/a
2	POLR2A	chr15:93424514-93426185	U87	brain:	n/a	n/a
3	MAFK	chr15:93424682-93424964	K562	blood:	n/a	n/a
4	POLR2A	chr15:93424349-93427371	GM12878	blood:	n/a	n/a
5	MYC	chr15:93424553-93426652	K562	blood:	n/a	n/a
6	POLR2A	chr15:93424642-93426415	PFSK-1	brain:	n/a	n/a
7	IRF1	chr15:93424557-93426511	K562	blood:	n/a	chr15:93424872-93424882 chr15:93425619-93425628 chr15:93424871-93424882 chr15:93424762-93424773 chr15:93424763-93424777 chr15:93424763-93424773 chr15:93424759-93424773 chr15:93424864-93424876 chr15:93424964-93424971 chr15:93425413-93425423 chr15:93424868-93424882 chr15:93424757-93424774 chr15:93425409-93425423
8	IRF1	chr15:93424450-93426224	K562	blood:	n/a	chr15:93424872-93424882 chr15:93425619-93425628 chr15:93424871-93424882 chr15:93424762-93424773 chr15:93424763-93424777 chr15:93424763-93424773 chr15:93424759-93424773 chr15:93424864-93424876 chr15:93424964-93424971 chr15:93425413-93425423 chr15:93424868-93424882 chr15:93424757-93424774 chr15:93425409-93425423
9	POLR2A	chr15:93424424-93426225	PANC-1	pancreas:	n/a	n/a
10	MTA3	chr15:93424609-93425785	GM12878	blood:	n/a	n/a
11	ARID3A	chr15:93424427-93424727	K562	blood:	n/a	n/a
12	BCL3	chr15:93424683-93426269	A549	lung:	n/a	chr15:93426000-93426013 chr15:93425998-93426007 chr15:93426184-93426197 chr15:93424764-93424773
13	HEY1	chr15:93424398-93426515	HepG2	liver:	n/a	n/a
14	POLR2A	chr15:93424473-93427055	K562	blood:	n/a	n/a
15	POLR2A	chr15:93424663-93427256	GM19099	blood:	n/a	n/a
16	POLR2A	chr15:93424690-93427323	GM12892	blood:	n/a	n/a
17	MAZ	chr15:93424501-93424782	K562	blood:	n/a	n/a
18	POLR2A	chr15:93424268-93428846	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr15:93424531-93429178	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr15:93424609-93425873	GM12878	blood:	n/a	n/a
21	POLR2A	chr15:93424470-93426608	HepG2	liver:	n/a	n/a
22	HCFC1	chr15:93424356-93427940	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr15:93424589-93425761	HepG2	liver:	n/a	n/a
24	MAFF	chr15:93424242-93425688	K562	blood:	n/a	n/a
25	POLR2A	chr15:93424535-93427132	K562	blood:	n/a	n/a
26	GATA3	chr15:93424303-93424712	T-47D	breast:	n/a	n/a
27	RCOR1	chr15:93424516-93426233	K562	blood:	n/a	n/a
28	EP300	chr15:93424455-93426153	K562	blood:	n/a	chr15:93424934-93424948 chr15:93425381-93425391 chr15:93425408-93425422 chr15:93424596-93424603
29	SP1	chr15:93424632-93426312	A549	lung:	n/a	chr15:93425998-93426007 chr15:93426000-93426014 chr15:93425704-93425715 chr15:93426006-93426020 chr15:93425701-93425715 chr15:93425997-93426006 chr15:93426003-93426017 chr15:93425996-93426008 chr15:93425730-93425751 chr15:93425618-93425639
30	TBP	chr15:93424659-93426243	HepG2	liver:	n/a	n/a
31	POLR2A	chr15:93424455-93428727	PBDE	blood:	n/a	n/a
32	RFX5	chr15:93424116-93426243	SK-N-SH	brain:	n/a	chr15:93425750-93425765 chr15:93425141-93425156
33	PML	chr15:93424642-93425796	K562	blood:	n/a	n/a
34	GATA1	chr15:93424392-93427556	PBDE	blood:	n/a	n/a
35	POLR2A	chr15:93424634-93429306	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr15:93424653-93426299	HCT-116	colon:	n/a	n/a
37	POLR2A	chr15:93424513-93428301	GM18505	blood:	n/a	n/a
38	TCF12	chr15:93424594-93427777	A549	lung:	n/a	chr15:93426163-93426173 chr15:93425381-93425390
39	REST	chr15:93423989-93425767	A549	lung:	n/a	chr15:93425104-93425118
40	POLR2A	chr15:93424514-93426191	U87	brain:	n/a	n/a
41	MXI1	chr15:93423850-93428882	SK-N-SH	brain:	n/a	chr15:93425142-93425157
42	POLR2A	chr15:93424538-93427212	K562	blood:	n/a	n/a
43	EP300	chr15:93424669-93424795	GM12878	blood:	n/a	n/a
44	POLR2A	chr15:93424554-93427158	K562	blood:	n/a	n/a
45	POLR2A	chr15:93424599-93427252	K562	blood:	n/a	n/a
46	POLR2A	chr15:93424693-93428733	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr15:93424522-93426297	K562	blood:	n/a	n/a
48	POLR2A	chr15:93424501-93427833	HepG2	liver:	n/a	n/a
49	HEY1	chr15:93424675-93425782	K562	blood:	n/a	n/a
50	ZNF384	chr15:93424489-93426153	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
ENSG00000185442	Chromatin interaction
ENSG00000258922	Chromatin interaction
ENSG00000258527	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:118 , 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	chr15:93421000-93424800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr15:93421400-93425200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr15:93421800-93425200	Enhancers	Placenta	Placenta
11	chr15:93421800-93426000	Weak transcription	Ovary	ovary
12	chr15:93422000-93425000	Weak transcription	Lung	lung
13	chr15:93422000-93425200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr15:93422200-93425000	Weak transcription	Pancreas	Pancrea
15	chr15:93422200-93425200	Weak transcription	Right Ventricle	heart
16	chr15:93422200-93426000	Weak transcription	Gastric	stomach
17	chr15:93422800-93424800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr15:93423000-93424800	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr15:93423000-93425000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr15:93423200-93424800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr15:93423200-93424800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr15:93423200-93424800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr15:93423200-93424800	Enhancers	Fetal Muscle Leg	muscle
24	chr15:93423200-93425000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr15:93423200-93425000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr15:93423200-93425000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr15:93423200-93425000	Flanking Active TSS	Thymus	Thymus
28	chr15:93423200-93425200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr15:93423200-93425200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr15:93423400-93424800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr15:93423400-93425000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr15:93423400-93425400	Flanking Active TSS	Dnd41	blood
33	chr15:93423400-93425600	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr15:93423600-93425000	Enhancers	Primary B cells from peripheral blood	blood
35	chr15:93423600-93425000	Flanking Active TSS	Brain Germinal Matrix	brain
36	chr15:93423600-93425000	Enhancers	Fetal Brain Male	brain
37	chr15:93423600-93425400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr15:93423600-93425400	Flanking Active TSS	Fetal Thymus	thymus
39	chr15:93423600-93425600	Enhancers	Spleen	Spleen
40	chr15:93423800-93424800	Enhancers	Brain Cingulate Gyrus	brain
41	chr15:93423800-93424800	Enhancers	Brain Substantia Nigra	brain
42	chr15:93423800-93424800	Enhancers	Fetal Stomach	stomach
43	chr15:93423800-93425200	Enhancers	Fetal Intestine Small	intestine
44	chr15:93423800-93425200	Weak transcription	Small Intestine	intestine
45	chr15:93423800-93425400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:93424000-93424800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr15:93424000-93424800	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr15:93424000-93424800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr15:93424000-93424800	Enhancers	Colon Smooth Muscle	Colon
50	chr15:93424000-93425000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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