Variant report

Variant	rs12898473
Chromosome Location	chr15:30112806-30112807
allele	A/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	MAFK	chr15:30112224-30113250	H1-hESC	embryonic stem cell:	n/a	chr15:30112448-30112459 chr15:30112444-30112460 chr15:30112447-30112461 chr15:30112448-30112459
2	CHD1	chr15:30111618-30116068	IMR90	lung:	n/a	n/a
3	RFX5	chr15:30112795-30113911	Hela-S3	cervix:	n/a	n/a
4	TBL1XR1	chr15:30111917-30113923	K562	blood:	n/a	n/a
5	MAFK	chr15:30112760-30113955	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr15:30111823-30115673	MCF10A-Er-Src	breast:	n/a	n/a
7	BACH1	chr15:30112449-30113905	K562	blood:	n/a	n/a
8	TBP	chr15:30112580-30113919	Hela-S3	cervix:	n/a	n/a
9	SIN3A	chr15:30112716-30112992	H1-hESC	embryonic stem cell:	n/a	n/a
10	STAT3	chr15:30112215-30113222	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr15:30112253-30115535	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr15:30112227-30115007	K562	blood:	n/a	n/a
13	JUN	chr15:30112361-30113899	K562	blood:	n/a	n/a
14	IRF1	chr15:30111842-30113921	K562	blood:	n/a	chr15:30113129-30113136 chr15:30113899-30113913 chr15:30113737-30113751
15	RFX5	chr15:30111810-30113015	K562	blood:	n/a	n/a
16	IRF1	chr15:30111580-30113934	K562	blood:	n/a	chr15:30113129-30113136 chr15:30113899-30113913 chr15:30113737-30113751
17	MXI1	chr15:30112187-30115713	SK-N-SH	brain:	n/a	n/a
18	CHD1	chr15:30111661-30114675	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr15:30112173-30115976	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:30111283..30113750-chr22:19879705..19881456,2	K562	blood:
2	chr15:30051900..30054307-chr15:30111477..30113324,2	K562	blood:

Variant related genes	Relation type
ENSG00000259523	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456736	chr15:29327352-30208654	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv568675	chr15:29327352-30208654	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv995038	chr15:29744279-30366124	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1038495	chr15:29825859-30351687	Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv542293	chr15:29825859-30351687	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv832945	chr15:29932599-30123721	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	esv2422463	chr15:30003189-30215336	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS 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	17 gene(s)	inside rSNPs	diseases
8	nsv903754	chr15:30023454-30382120	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv903755	chr15:30036085-30351434	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	esv1851951	chr15:30043659-30178871	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	esv1845759	chr15:30097078-30142373	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv827275	chr15:30110266-30115636	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv3437718	chr15:30112685-30116033	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30082400-30113600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:30108200-30113000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr15:30108400-30113000	Weak transcription	Esophagus	oesophagus
4	chr15:30108600-30113600	Weak transcription	Pancreas	Pancrea
5	chr15:30110400-30115400	Active TSS	Right Atrium	heart
6	chr15:30111200-30113000	Weak transcription	Lung	lung
7	chr15:30111200-30113600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:30111400-30115000	Active TSS	NHLF	lung
9	chr15:30111400-30115600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr15:30111600-30113000	Flanking Active TSS	HUVEC	blood vessel
11	chr15:30111600-30113200	Active TSS	Duodenum Mucosa	Duodenum
12	chr15:30111600-30114400	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr15:30111600-30115000	Active TSS	Fetal Muscle Leg	muscle
14	chr15:30111600-30115000	Active TSS	HSMM	muscle
15	chr15:30111600-30115000	Active TSS	K562	blood
16	chr15:30111600-30115000	Active TSS	NH-A	brain
17	chr15:30111600-30115200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:30111600-30115200	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr15:30111600-30115200	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr15:30111600-30115200	Active TSS	Right Ventricle	heart
21	chr15:30111600-30115400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr15:30111600-30115400	Active TSS	Psoas Muscle	Psoas
23	chr15:30111600-30115400	Active TSS	Stomach Smooth Muscle	stomach
24	chr15:30111800-30113000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr15:30111800-30113000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr15:30111800-30113200	Flanking Active TSS	Liver	Liver
27	chr15:30111800-30113200	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr15:30111800-30114800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr15:30111800-30115200	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr15:30111800-30115200	Active TSS	Colon Smooth Muscle	Colon
31	chr15:30111800-30115200	Active TSS	HSMMtube	muscle
32	chr15:30111800-30115400	Active TSS	Aorta	Aorta
33	chr15:30111800-30115600	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr15:30111800-30115600	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr15:30112000-30113000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr15:30112000-30113000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr15:30112000-30113000	Flanking Active TSS	NHEK	skin
38	chr15:30112000-30113800	Active TSS	Fetal Heart	heart
39	chr15:30112000-30115000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr15:30112000-30115000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr15:30112000-30115000	Active TSS	Placenta	Placenta
42	chr15:30112000-30115000	Active TSS	HMEC	breast
43	chr15:30112000-30115200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:30112000-30115200	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr15:30112000-30115200	Active TSS	Rectal Smooth Muscle	rectum
46	chr15:30112200-30113000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr15:30112200-30113000	Flanking Active TSS	Hela-S3	cervix
48	chr15:30112200-30114200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr15:30112200-30115000	Active TSS	Muscle Satellite Cultured Cells	--
50	chr15:30112200-30115200	Active TSS	Ovary	ovary

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