Variant report

Variant	rs57015460
Chromosome Location	chr15:99791436-99791437
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	PBX3	chr15:99791113-99791812	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr15:99790833-99791931	K562	blood:	n/a	n/a
3	TCF7L2	chr15:99790999-99791579	PANC-1	pancreas:	n/a	n/a
4	MYC	chr15:99791174-99791623	MCF10A-Er-Src	breast:	n/a	chr15:99791567-99791577
5	SP1	chr15:99790778-99791979	A549	lung:	n/a	chr15:99791436-99791445 chr15:99791434-99791446 chr15:99791434-99791446
6	NFIC	chr15:99790586-99791486	GM12878	blood:	n/a	chr15:99791329-99791357
7	POLR2A	chr15:99790318-99793089	GM12891	blood:	n/a	n/a
8	ATF2	chr15:99790825-99791768	GM12878	blood:	n/a	n/a
9	PAX5	chr15:99791382-99791996	GM12892	blood:	n/a	n/a
10	POLR2A	chr15:99791107-99791563	A549	lung:	n/a	n/a
11	MAZ	chr15:99791201-99792149	HepG2	liver:	n/a	chr15:99791567-99791577
12	POLR2A	chr15:99790637-99792106	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr15:99790681-99792082	SK-N-MC	brain:	n/a	n/a
14	POLR2A	chr15:99790697-99791594	GM12878	blood:	n/a	n/a
15	ZBTB33	chr15:99791045-99791910	HCT-116	colon:	n/a	chr15:99791517-99791532 chr15:99791436-99791446 chr15:99791547-99791554
16	MYC	chr15:99791382-99791492	K562	blood:	n/a	n/a
17	TAF1	chr15:99791174-99791632	GM12892	blood:	n/a	n/a
18	PBX3	chr15:99791312-99791598	GM12878	blood:	n/a	n/a
19	ZBTB33	chr15:99791070-99791862	SK-N-SH	brain:	n/a	chr15:99791517-99791532 chr15:99791436-99791446 chr15:99791547-99791554
20	SIN3A	chr15:99790920-99792111	GM12878	blood:	n/a	chr15:99791735-99791744 chr15:99791870-99791883
21	POLR2A	chr15:99790878-99792098	GM19193	blood:	n/a	n/a
22	STAT3	chr15:99791189-99791485	MCF10A-Er-Src	breast:	n/a	n/a
23	ETS1	chr15:99791289-99791758	GM12878	blood:	n/a	chr15:99791453-99791460 chr15:99791433-99791444 chr15:99791412-99791421 chr15:99791411-99791426 chr15:99791543-99791552
24	GTF2F1	chr15:99791425-99791855	H1-hESC	embryonic stem cell:	n/a	n/a
25	TAF1	chr15:99790832-99791970	A549	lung:	n/a	n/a
26	POLR2A	chr15:99791183-99791519	H1-hESC	embryonic stem cell:	n/a	n/a
27	ZBTB33	chr15:99791223-99791785	GM12878	blood:	n/a	chr15:99791517-99791532 chr15:99791436-99791446 chr15:99791547-99791554
28	MYC	chr15:99791424-99791672	HepG2	liver:	n/a	chr15:99791567-99791577
29	ELF1	chr15:99791232-99792093	GM12878	blood:	n/a	chr15:99791413-99791422 chr15:99791410-99791423 chr15:99791448-99791461
30	GABPA	chr15:99790959-99791736	A549	lung:	n/a	chr15:99791435-99791444
31	YY1	chr15:99791142-99791898	K562	blood:	n/a	chr15:99791432-99791446
32	BCLAF1	chr15:99790744-99791594	GM12878	blood:	n/a	n/a
33	MAX	chr15:99790756-99792092	A549	lung:	n/a	chr15:99791567-99791577
34	ARID3A	chr15:99790922-99791899	HepG2	liver:	n/a	n/a
35	ELF1	chr15:99791173-99791726	K562	blood:	n/a	chr15:99791413-99791422 chr15:99791410-99791423 chr15:99791448-99791461
36	BRCA1	chr15:99791028-99791731	HepG2	liver:	n/a	n/a
37	MAX	chr15:99790984-99791622	MCF-7	breast:	n/a	chr15:99791567-99791577
38	MYC	chr15:99791325-99792048	MCF-7	breast:	n/a	chr15:99791567-99791577
39	TAF1	chr15:99790837-99792140	MCF-7	breast:	n/a	n/a
40	SP2	chr15:99791181-99791653	HepG2	liver:	n/a	n/a
41	POLR2A	chr15:99790877-99791953	HCT-116	colon:	n/a	n/a
42	REST	chr15:99791196-99791591	PFSK-1	brain:	n/a	n/a
43	POLR2A	chr15:99791110-99792062	A549	lung:	n/a	n/a
44	POLR2A	chr15:99790523-99791909	PANC-1	pancreas:	n/a	n/a
45	POLR2A	chr15:99790964-99791577	K562	blood:	n/a	n/a
46	ELK1	chr15:99790867-99792338	GM12878	blood:	n/a	n/a
47	POLR2A	chr15:99790807-99791588	GM12891	blood:	n/a	n/a
48	ATF2	chr15:99791342-99791717	H1-hESC	embryonic stem cell:	n/a	n/a
49	MAX	chr15:99791082-99791570	K562	blood:	n/a	n/a
50	MAX	chr15:99791017-99792038	SK-N-SH	brain:	n/a	chr15:99791567-99791577

No.	Distal block	Cell Line	Cell type
1	chr15:99789846..99791808-chr15:100272487..100274799,2	MCF-7	breast:
2	chr15:99791079..99791792-chr22:24236535..24237112,2	HCT-116	colon:
3	chr15:45003258..45003898-chr15:99790871..99791766,2	NB4	blood:
4	chr15:99790234..99792055-chr2:242088635..242090209,2	MCF-7	breast:
5	chr15:99791130..99791720-chr17:41465594..41466467,2	Hela-S3	cervix:
6	chr15:99643812..99646594-chr15:99789555..99792592,4	MCF-7	breast:
7	chr15:99762009..99765655-chr15:99790108..99792308,4	MCF-7	breast:
8	chr15:99790997..99791604-chr17:79368586..79369422,2	HCT-116	colon:
9	chr15:99788657..99793033-chr15:100273651..100276844,5	MCF-7	breast:
10	chr1:37939783..37940413-chr15:99790980..99791738,2	Hela-S3	cervix:
11	chr15:99790531..99793156-chr15:100244093..100247016,2	MCF-7	breast:

Variant related genes	Relation type
TTC23	TF binding region
LRRC28	TF binding region
ENSG00000259475	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000115685	Chromatin interaction
ENSG00000229474	Chromatin interaction
ENSG00000233621	Chromatin interaction
ENSG00000068305	Chromatin interaction
ENSG00000183060	Chromatin interaction
ENSG00000182253	Chromatin interaction
ENSG00000166710	Chromatin interaction
ENSG00000115687	Chromatin interaction
ENSG00000263053	Chromatin interaction
ENSG00000103852	Chromatin interaction
ENSG00000163874	Chromatin interaction
ENSG00000240972	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12148835	0.93[AFR][1000 genomes]
rs4542646	0.88[AFR][1000 genomes]
rs57438271	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59564392	0.89[AFR][1000 genomes]
rs62025699	0.91[AFR][1000 genomes]
rs62025702	0.93[AFR][1000 genomes]
rs62025703	0.93[AFR][1000 genomes]
rs7165559	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7167791	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs906975	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531079	chr15:98907913-99878547	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv1039575	chr15:98982045-99924685	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats 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	96 gene(s)	inside rSNPs	diseases
3	nsv869529	chr15:99416774-99903351	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv1055008	chr15:99477144-100019861	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1045124	chr15:99504843-99847210	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS 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	39 gene(s)	inside rSNPs	diseases
6	nsv904543	chr15:99513231-99991506	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	nsv533926	chr15:99519820-99997114	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
9	nsv1051782	chr15:99621061-99792967	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	nsv916822	chr15:99621061-99878564	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv949203	chr15:99621061-99932797	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
13	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
14	nsv570716	chr15:99629901-99916332	Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv904546	chr15:99696046-100166300	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
16	nsv1052528	chr15:99736977-99874210	Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
17	nsv1036346	chr15:99752391-100365458	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
18	nsv542520	chr15:99752391-100365458	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
19	nsv1045367	chr15:99781626-99892182	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers 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	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:99787400-99792400	Active TSS	GM12878-XiMat	blood
2	chr15:99788200-99792400	Active TSS	Aorta	Aorta
3	chr15:99788200-99792400	Active TSS	Fetal Intestine Small	intestine
4	chr15:99788200-99792600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr15:99788400-99792200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:99788400-99792200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr15:99788400-99792400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr15:99788400-99792600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr15:99788400-99792600	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr15:99788400-99792600	Active TSS	Fetal Intestine Large	intestine
11	chr15:99788400-99792600	Active TSS	Right Ventricle	heart
12	chr15:99788400-99792800	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr15:99788400-99792800	Active TSS	HSMMtube	muscle
14	chr15:99788600-99792000	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr15:99788600-99792400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr15:99788600-99792400	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr15:99788600-99792400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr15:99788600-99792400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr15:99788600-99792400	Active TSS	Colonic Mucosa	Colon
20	chr15:99788600-99792400	Active TSS	Fetal Kidney	kidney
21	chr15:99788600-99792600	Active TSS	Fetal Muscle Trunk	muscle
22	chr15:99788600-99792800	Active TSS	H9 Cell Line	embryonic stem cell
23	chr15:99788800-99792000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr15:99788800-99792200	Active TSS	Fetal Lung	lung
25	chr15:99788800-99792200	Active TSS	Ovary	ovary
26	chr15:99788800-99792400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:99788800-99792400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr15:99788800-99792400	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr15:99788800-99792400	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr15:99788800-99792400	Active TSS	HMEC	breast
31	chr15:99788800-99792400	Active TSS	NHEK	skin
32	chr15:99788800-99792800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr15:99788800-99792800	Active TSS	Fetal Stomach	stomach
34	chr15:99789000-99792000	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr15:99789000-99792200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr15:99789000-99792200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr15:99789000-99792200	Active TSS	Colon Smooth Muscle	Colon
38	chr15:99789000-99792200	Active TSS	Duodenum Mucosa	Duodenum
39	chr15:99789000-99792200	Active TSS	Stomach Smooth Muscle	stomach
40	chr15:99789000-99792400	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr15:99789000-99792400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr15:99789000-99792400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr15:99789000-99792400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr15:99789000-99792400	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr15:99789000-99792400	Active TSS	Fetal Muscle Leg	muscle
46	chr15:99789000-99792400	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr15:99789000-99792400	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr15:99789000-99792400	Active TSS	A549	lung
49	chr15:99789000-99792400	Active TSS	HSMM	muscle
50	chr15:99789000-99792400	Active TSS	NHDF-Ad	bronchial

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