Variant report

Variant	rs142994929
Chromosome Location	chr15:31507055-31507056
allele	C/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	CTCF	chr15:31506590-31508289	A549	lung:	n/a	chr15:31507788-31507806 chr15:31507791-31507804 chr15:31507793-31507803 chr15:31507827-31507840
2	SMC3	chr15:31506778-31509180	Hela-S3	cervix:	n/a	chr15:31507060-31507070 chr15:31508657-31508667 chr15:31508046-31508056 chr15:31507794-31507804 chr15:31507790-31507804
3	MAX	chr15:31506693-31509050	HepG2	liver:	n/a	n/a
4	CTCF	chr15:31506920-31507070	GM12872	blood:	n/a	n/a
5	POLR2A	chr15:31506705-31509296	GM12892	blood:	n/a	n/a
6	POLR2A	chr15:31506770-31509334	GM12878	blood:	n/a	n/a
7	CTCF	chr15:31506920-31507070	GM12873	blood:	n/a	n/a
8	STAT3	chr15:31506998-31507852	MCF10A-Er-Src	breast:	n/a	chr15:31507651-31507665 chr15:31507799-31507811 chr15:31507653-31507662 chr15:31507648-31507668 chr15:31507654-31507662 chr15:31507010-31507017 chr15:31507648-31507668 chr15:31507654-31507663
9	POLR2A	chr15:31506781-31508367	GM12892	blood:	n/a	n/a
10	SMC3	chr15:31506875-31509137	SK-N-SH	brain:	n/a	chr15:31507060-31507070 chr15:31508657-31508667 chr15:31508046-31508056 chr15:31507794-31507804 chr15:31507790-31507804
11	POLR2A	chr15:31506745-31509203	GM15510	blood:	n/a	n/a
12	MYC	chr15:31506995-31507364	MCF10A-Er-Src	breast:	n/a	n/a
13	CTCF	chr15:31506920-31507070	GM12878	blood:	n/a	n/a
14	MTA3	chr15:31506588-31509494	GM12878	blood:	n/a	n/a
15	CTCF	chr15:31506960-31507110	AG10803	skin:	n/a	n/a
16	BHLHE40	chr15:31506800-31507151	GM12878	blood:	n/a	n/a
17	CHD2	chr15:31507010-31509063	Hela-S3	cervix:	n/a	n/a
18	MAX	chr15:31506739-31509280	NB4	blood:	n/a	n/a
19	USF2	chr15:31506806-31507417	Hela-S3	cervix:	n/a	chr15:31507241-31507252
20	SMARCB1	chr15:31506827-31509186	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr15:31506646-31508392	GM12892	blood:	n/a	n/a
22	POLR2A	chr15:31506496-31509522	GM18505	blood:	n/a	n/a
23	POLR2A	chr15:31506401-31509581	GM12878	blood:	n/a	n/a
24	CREB1	chr15:31507051-31507564	A549	lung:	n/a	n/a
25	CTCF	chr15:31506940-31507090	SAEC	small airway:	n/a	n/a
26	MAZ	chr15:31506962-31508433	IMR90	lung:	n/a	n/a
27	POLR2A	chr15:31506608-31509626	GM19099	blood:	n/a	n/a
28	MYC	chr15:31506961-31507440	MCF10A-Er-Src	breast:	n/a	n/a
29	CTCF	chr15:31506831-31507060	GM12892	blood:	n/a	n/a
30	POLR2A	chr15:31507045-31507068	GM12878	blood:	n/a	n/a
31	MAX	chr15:31506881-31509237	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr15:31507002-31509042	A549	lung:	n/a	n/a
33	ELF1	chr15:31506672-31509094	GM12878	blood:	n/a	chr15:31507337-31507349 chr15:31508221-31508233 chr15:31508806-31508815
34	MAZ	chr15:31506906-31509009	Hela-S3	cervix:	n/a	n/a
35	HCFC1	chr15:31506825-31509438	Hela-S3	cervix:	n/a	n/a
36	BHLHE40	chr15:31506772-31507136	HepG2	liver:	n/a	n/a
37	RAD21	chr15:31506818-31507382	Hela-S3	cervix:	n/a	chr15:31507344-31507356
38	STAT3	chr15:31507036-31507705	MCF10A-Er-Src	breast:	n/a	chr15:31507651-31507665 chr15:31507653-31507662 chr15:31507648-31507668 chr15:31507654-31507662 chr15:31507648-31507668 chr15:31507654-31507663
39	BHLHE40	chr15:31506862-31507075	K562	blood:	n/a	n/a
40	POLR2A	chr15:31506751-31509296	GM18951	blood:	n/a	n/a
41	NR3C1	chr15:31507046-31507563	A549	lung:	n/a	n/a
42	RCOR1	chr15:31506976-31509015	Hela-S3	cervix:	n/a	n/a
43	TFAP2A	chr15:31506956-31509262	Hela-S3	cervix:	n/a	chr15:31508805-31508815 chr15:31508247-31508262 chr15:31508801-31508812 chr15:31508198-31508213 chr15:31508805-31508815
44	POLR2A	chr15:31506916-31508406	GM12878	blood:	n/a	n/a
45	GTF2F1	chr15:31506987-31507813	Hela-S3	cervix:	n/a	n/a
46	MAX	chr15:31506883-31509041	GM12878	blood:	n/a	n/a
47	RAD21	chr15:31506797-31507094	HepG2	liver:	n/a	n/a
48	ZKSCAN1	chr15:31506878-31507333	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr15:31507040-31507190	AG04449	skin:	n/a	n/a
50	RFX5	chr15:31506974-31507378	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000259448	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531138	chr15:30653877-31609679	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv903831	chr15:30986051-31723279	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv1036018	chr15:31140415-31544888	Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	nsv1052722	chr15:31261834-31609680	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv542315	chr15:31261834-31609680	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv932896	chr15:31292475-31730445	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
9	nsv903836	chr15:31330280-31512652	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
10	nsv903838	chr15:31452911-31672128	Strong transcription Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	esv1815415	chr15:31483843-31697213	Genic enhancers Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv903839	chr15:31495113-31576677	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	esv34100	chr15:31496514-31792591	Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
14	esv3389877	chr15:31506685-31509233	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31501800-31507200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:31503800-31507200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr15:31503800-31507200	Weak transcription	Aorta	Aorta
4	chr15:31504000-31507600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:31504000-31507800	Enhancers	Placenta	Placenta
6	chr15:31504400-31507800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr15:31505000-31507200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr15:31505000-31507200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr15:31505600-31507200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr15:31505800-31507200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:31506200-31507200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr15:31506400-31507200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr15:31506400-31507200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr15:31506400-31507200	Enhancers	Liver	Liver
15	chr15:31506400-31507400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr15:31506400-31507400	Enhancers	Primary B cells from cord blood	blood
17	chr15:31506400-31507400	Enhancers	Primary T cells fromperipheralblood	blood
18	chr15:31506400-31507400	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr15:31506400-31507400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr15:31506400-31507400	Enhancers	Esophagus	oesophagus
21	chr15:31506400-31507600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr15:31506400-31507800	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr15:31506400-31508000	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr15:31506400-31508000	Flanking Active TSS	Fetal Thymus	thymus
25	chr15:31506600-31507200	Enhancers	Adipose Nuclei	Adipose
26	chr15:31506600-31507200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr15:31506600-31507200	Enhancers	HMEC	breast
28	chr15:31506600-31507400	Enhancers	Primary B cells from peripheral blood	blood
29	chr15:31506600-31507400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr15:31506600-31507400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr15:31506600-31507400	Enhancers	Brain Germinal Matrix	brain
32	chr15:31506600-31507400	Enhancers	Colonic Mucosa	Colon
33	chr15:31506600-31507400	Enhancers	Fetal Brain Female	brain
34	chr15:31506600-31507400	Enhancers	Psoas Muscle	Psoas
35	chr15:31506600-31507600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr15:31506600-31507600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr15:31506600-31507600	Enhancers	Fetal Intestine Large	intestine
38	chr15:31506600-31507600	Enhancers	Stomach Mucosa	stomach
39	chr15:31506600-31507800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr15:31506600-31507800	Enhancers	Lung	lung
41	chr15:31506600-31507800	Enhancers	Right Atrium	heart
42	chr15:31506600-31507800	Flanking Active TSS	Thymus	Thymus
43	chr15:31506600-31507800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr15:31506600-31509400	Enhancers	Fetal Heart	heart
45	chr15:31506800-31507200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr15:31506800-31507200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr15:31506800-31507200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr15:31506800-31507200	Enhancers	Duodenum Mucosa	Duodenum
49	chr15:31506800-31507200	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr15:31506800-31507200	Enhancers	Spleen	Spleen

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