Variant report

Variant	rs12729317
Chromosome Location	chr1:154474322-154474323
allele	A/C
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	YY1	chr1:154474261-154474499	GM12878	blood:	n/a	n/a
2	E2F6	chr1:154474013-154475849	H1-hESC	embryonic stem cell:	n/a	chr1:154475683-154475692 chr1:154474738-154474747 chr1:154475247-154475254 chr1:154474983-154474992 chr1:154475362-154475374 chr1:154475038-154475048
3	CEBPB	chr1:154474069-154474504	H1-hESC	embryonic stem cell:	n/a	chr1:154474300-154474311
4	MAX	chr1:154474033-154475830	H1-hESC	embryonic stem cell:	n/a	chr1:154474736-154474746 chr1:154475552-154475562 chr1:154474854-154474864 chr1:154475484-154475493 chr1:154474576-154474585 chr1:154475160-154475179 chr1:154475164-154475175
5	CEBPB	chr1:154474120-154474489	IMR90	lung:	n/a	chr1:154474300-154474311
6	CEBPB	chr1:154474201-154474450	K562	blood:	n/a	chr1:154474300-154474311
7	CEBPB	chr1:154474136-154474472	A549	lung:	n/a	chr1:154474300-154474311
8	MAX	chr1:154474027-154475856	H1-hESC	embryonic stem cell:	n/a	chr1:154474736-154474746 chr1:154475552-154475562 chr1:154474854-154474864 chr1:154475484-154475493 chr1:154474576-154474585 chr1:154475160-154475179 chr1:154475164-154475175
9	EGR1	chr1:154474220-154474410	K562	blood:	n/a	chr1:154474311-154474325
10	CEBPB	chr1:154474117-154474492	HepG2	liver:	n/a	chr1:154474300-154474311
11	CEBPB	chr1:154474207-154474525	A549	lung:	n/a	chr1:154474300-154474311
12	CEBPB	chr1:154473971-154474633	A549	lung:	n/a	chr1:154474300-154474311
13	EGR1	chr1:154474189-154474363	K562	blood:	n/a	chr1:154474311-154474325
14	CEBPB	chr1:154474047-154474519	MCF-7	breast:	n/a	chr1:154474300-154474311
15	TBP	chr1:154474159-154474412	H1-hESC	embryonic stem cell:	n/a	n/a
16	SUZ12	chr1:154473918-154474502	H1-hESC	embryonic stem cell:	n/a	n/a
17	GABPA	chr1:154474068-154474427	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr1:154474113-154474492	HepG2	liver:	n/a	chr1:154474300-154474311
19	CEBPB	chr1:154474183-154474434	HepG2	liver:	n/a	chr1:154474300-154474311
20	CEBPB	chr1:154474135-154474513	MCF-7	breast:	n/a	chr1:154474300-154474311
21	EGR1	chr1:154474203-154474402	GM12878	blood:	n/a	chr1:154474311-154474325
22	POLR2A	chr1:154474018-154475497	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr1:154474268-154475404	HUVEC	blood vessel:	n/a	n/a
24	CEBPB	chr1:154474124-154474479	ECC-1	luminal epithelium:	n/a	chr1:154474300-154474311
25	YY1	chr1:154474119-154474525	H1-hESC	embryonic stem cell:	n/a	n/a
26	ZBTB7A	chr1:154474065-154474588	ECC-1	luminal epithelium:	n/a	n/a
27	CEBPB	chr1:154474221-154474356	HepG2	liver:	n/a	chr1:154474300-154474311
28	E2F6	chr1:154473973-154475840	H1-hESC	embryonic stem cell:	n/a	chr1:154475683-154475692 chr1:154474738-154474747 chr1:154475247-154475254 chr1:154474983-154474992 chr1:154475362-154475374 chr1:154475038-154475048
29	MYC	chr1:154474193-154474421	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr1:154473755-154475537	HUVEC	blood vessel:	n/a	n/a
31	CEBPB	chr1:154474119-154474493	K562	blood:	n/a	chr1:154474300-154474311
32	CEBPB	chr1:154474046-154474595	ECC-1	luminal epithelium:	n/a	chr1:154474300-154474311
33	EGR1	chr1:154474175-154474487	ECC-1	luminal epithelium:	n/a	chr1:154474311-154474325

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154473384..154476326-chr1:154529885..154532539,2	MCF-7	breast:
2	chr1:154191216..154193063-chr1:154472171..154474701,2	K562	blood:

Variant related genes	Relation type
TDRD10	TF binding region
ENSG00000143612	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000160714	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	esv1815481	chr1:154465065-154475033	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	esv3424713	chr1:154473153-154475701	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv3414034	chr1:154473478-154476776	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv547942	chr1:154474131-154474784	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv547943	chr1:154474131-154474875	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv547944	chr1:154474131-154474977	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv547945	chr1:154474131-154475033	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv547946	chr1:154474131-154475037	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	esv1822921	chr1:154474131-154495697	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	esv19920	chr1:154474148-154475093	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
14	nsv547947	chr1:154474233-154474977	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
15	nsv547948	chr1:154474233-154475033	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
16	nsv547949	chr1:154474233-154475037	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
17	nsv547950	chr1:154474233-154480318	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
18	nsv547951	chr1:154474284-154475033	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
19	nsv547952	chr1:154474284-154475037	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
20	nsv547953	chr1:154474284-154480485	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
21	nsv547954	chr1:154474285-154474977	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
22	nsv547955	chr1:154474285-154475033	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
23	nsv547956	chr1:154474285-154475037	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154471200-154475400	Active TSS	Right Atrium	heart
2	chr1:154472000-154475200	Bivalent/Poised TSS	Left Ventricle	heart
3	chr1:154472200-154475400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
4	chr1:154472200-154475400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
5	chr1:154472400-154474400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
6	chr1:154472400-154475400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
7	chr1:154472800-154474800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
8	chr1:154472800-154475200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:154472800-154475200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
10	chr1:154472800-154475200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
11	chr1:154473000-154475000	Active TSS	Lung	lung
12	chr1:154473200-154474400	Flanking Active TSS	Liver	Liver
13	chr1:154473200-154475200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr1:154473200-154475200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
15	chr1:154473200-154475600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
16	chr1:154473200-154475600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:154473400-154474800	Bivalent/Poised TSS	Aorta	Aorta
18	chr1:154473400-154475000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
19	chr1:154473400-154475200	Active TSS	HUVEC	blood vessel
20	chr1:154473400-154475400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
21	chr1:154473800-154474400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:154473800-154474400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:154473800-154474400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
24	chr1:154473800-154474400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
25	chr1:154473800-154474600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
26	chr1:154473800-154474600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
27	chr1:154473800-154474800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr1:154473800-154474800	Flanking Active TSS	Pancreas	Pancrea
29	chr1:154473800-154475200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
30	chr1:154473800-154475200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
31	chr1:154473800-154475400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr1:154473800-154475400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
33	chr1:154473800-154475400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
34	chr1:154473800-154475400	Bivalent Enhancer	Primary B cells from cord blood	blood
35	chr1:154473800-154475400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
36	chr1:154473800-154475400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:154473800-154475400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:154473800-154475400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:154473800-154475400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
40	chr1:154473800-154475400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
41	chr1:154474000-154474400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:154474000-154474400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
43	chr1:154474000-154474400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:154474000-154474400	Flanking Active TSS	Placenta	Placenta
45	chr1:154474000-154474400	Bivalent/Poised TSS	HepG2	liver
46	chr1:154474000-154474600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr1:154474000-154474600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:154474000-154474600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:154474000-154474600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:154474000-154474600	Bivalent/Poised TSS	A549	lung

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