Variant report

Variant	rs2303407
Chromosome Location	chr15:31283867-31283868
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	EP300	chr15:31283745-31284245	HepG2	liver:	n/a	chr15:31284050-31284066 chr15:31283896-31283905 chr15:31284184-31284200
2	HNF4A	chr15:31283697-31284408	HepG2	liver:	n/a	chr15:31284345-31284360 chr15:31284337-31284352 chr15:31284338-31284351 chr15:31284338-31284351 chr15:31284334-31284356 chr15:31284343-31284355
3	MYC	chr15:31282773-31284408	NB4	blood:	n/a	chr15:31283078-31283088
4	POLR2A	chr15:31282497-31285187	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr15:31283399-31284501	A549	lung:	n/a	n/a
6	ZNF143	chr15:31283346-31284264	Hela-S3	cervix:	n/a	chr15:31283850-31283860 chr15:31283896-31283906 chr15:31283569-31283587
7	FOXA1	chr15:31283541-31283917	ECC-1	luminal epithelium:	n/a	n/a
8	RELA	chr15:31283289-31284468	GM15510	blood:	n/a	n/a
9	POLR2A	chr15:31282888-31284634	NB4	blood:	n/a	n/a
10	YY1	chr15:31283245-31284324	H1-hESC	embryonic stem cell:	n/a	chr15:31283890-31283904 chr15:31283751-31283765 chr15:31284196-31284205 chr15:31283896-31283910 chr15:31283961-31283975 chr15:31284074-31284082 chr15:31284056-31284070
11	POLR2A	chr15:31283159-31284947	HepG2	liver:	n/a	n/a
12	MAX	chr15:31283088-31285048	Hela-S3	cervix:	n/a	chr15:31284470-31284480
13	POLR2A	chr15:31283517-31284306	PFSK-1	brain:	n/a	n/a
14	YY1	chr15:31283623-31284258	HepG2	liver:	n/a	chr15:31283890-31283904 chr15:31283751-31283765 chr15:31284196-31284205 chr15:31283896-31283910 chr15:31283961-31283975 chr15:31284074-31284082 chr15:31284056-31284070
15	POLR2A	chr15:31283606-31284348	HepG2	liver:	n/a	n/a
16	RAD21	chr15:31283698-31283901	K562	blood:	n/a	n/a
17	POLR2A	chr15:31283261-31284597	GM19099	blood:	n/a	n/a
18	TBL1XR1	chr15:31283866-31284245	GM12878	blood:	n/a	n/a
19	POLR2A	chr15:31282804-31284962	GM12891	blood:	n/a	n/a
20	TAF7	chr15:31283480-31284328	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr15:31283414-31284459	GM12878	blood:	n/a	n/a
22	POLR2A	chr15:31283347-31284511	ECC-1	luminal epithelium:	n/a	n/a
23	E2F1	chr15:31283374-31284383	Hela-S3	cervix:	n/a	chr15:31283505-31283515 chr15:31283500-31283509 chr15:31283944-31283958 chr15:31284196-31284205
24	POLR2A	chr15:31283556-31284155	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr15:31283535-31284421	GM12891	blood:	n/a	n/a
26	REST	chr15:31283203-31284438	A549	lung:	n/a	chr15:31284188-31284201 chr15:31284234-31284243 chr15:31284051-31284064 chr15:31284056-31284066 chr15:31283873-31283886
27	TAF1	chr15:31283735-31284253	PFSK-1	brain:	n/a	n/a
28	POLR2A	chr15:31283594-31284451	GM12878	blood:	n/a	n/a
29	BCLAF1	chr15:31283564-31284294	GM12878	blood:	n/a	chr15:31284048-31284061 chr15:31284192-31284205 chr15:31283960-31283973 chr15:31284026-31284039
30	ZNF143	chr15:31283532-31284362	GM12878	blood:	n/a	chr15:31283850-31283860 chr15:31283896-31283906 chr15:31283569-31283587
31	EP300	chr15:31283629-31284083	K562	blood:	n/a	chr15:31284050-31284066 chr15:31283896-31283905
32	CTCF	chr15:31283720-31283870	AG04449	skin:	n/a	n/a
33	RFX5	chr15:31282240-31284763	Hela-S3	cervix:	n/a	chr15:31283165-31283178
34	EP300	chr15:31283619-31284116	HepG2	liver:	n/a	chr15:31284050-31284066 chr15:31283896-31283905
35	POLR2A	chr15:31283362-31284317	K562	blood:	n/a	n/a
36	RCOR1	chr15:31283383-31284412	GM12878	blood:	n/a	n/a
37	MAX	chr15:31283145-31284510	A549	lung:	n/a	chr15:31284470-31284480
38	POLR2A	chr15:31283595-31284428	A549	lung:	n/a	n/a
39	ETS1	chr15:31283829-31284310	K562	blood:	n/a	chr15:31283966-31283979
40	POLR2A	chr15:31283419-31284462	MCF-7	breast:	n/a	n/a
41	POLR2A	chr15:31283364-31284592	U87	brain:	n/a	n/a
42	POLR2A	chr15:31283558-31284219	K562	blood:	n/a	n/a
43	FOXP2	chr15:31283575-31284338	PFSK-1	brain:	n/a	n/a
44	REST	chr15:31283577-31284464	HL-60	blood:	n/a	chr15:31284188-31284201 chr15:31284234-31284243 chr15:31284051-31284064 chr15:31284056-31284066 chr15:31283873-31283886
45	POLR2A	chr15:31283446-31284466	A549	lung:	n/a	n/a
46	RAD21	chr15:31283188-31284369	IMR90	lung:	n/a	chr15:31284023-31284036 chr15:31284342-31284352
47	EP300	chr15:31283596-31284316	H1-hESC	embryonic stem cell:	n/a	chr15:31284050-31284066 chr15:31283896-31283905 chr15:31284184-31284200
48	NR3C1	chr15:31283864-31284402	A549	lung:	n/a	n/a
49	SP1	chr15:31283651-31284070	GM12878	blood:	n/a	chr15:31283931-31283943 chr15:31283931-31283943 chr15:31283865-31283877 chr15:31283933-31283942 chr15:31283867-31283876 chr15:31283932-31283941 chr15:31283866-31283875 chr15:31283932-31283941 chr15:31283865-31283877
50	CCNT2	chr15:31283444-31284408	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:31281475..31285433-chr15:31293926..31297603,3	K562	blood:
2	chr15:31283397..31283909-chr8:33370822..33371374,2	Hela-S3	cervix:
3	chr15:31283081..31284688-chr22:29195568..29197954,2	MCF-7	breast:
4	chr15:31194360..31196709-chr15:31282391..31284386,2	MCF-7	breast:
5	chr1:11796085..11796680-chr15:31283192..31284143,2	Hela-S3	cervix:
6	chr15:31282575..31285514-chr15:31322559..31324126,2	MCF-7	breast:
7	chr15:31283675..31284503-chr15:65588312..65589255,3	Hela-S3	cervix:
8	chr15:31281226..31284928-chr15:31292691..31294333,3	MCF-7	breast:
9	chr15:31283674..31284510-chr15:91260417..91261048,2	Hela-S3	cervix:
10	chr15:31276854..31278863-chr15:31283840..31285876,2	MCF-7	breast:
11	chr15:31283587..31284518-chr15:91537465..91538318,2	Hela-S3	cervix:
12	chr15:31218794..31220951-chr15:31282389..31284227,2	K562	blood:
13	chr12:49658189..49658946-chr15:31283702..31284236,2	Hela-S3	cervix:
14	chr15:31283483..31284320-chr6:54711525..54712159,2	Hela-S3	cervix:
15	chr15:31281186..31283904-chr15:31357047..31359370,2	MCF-7	breast:
16	chr15:31283761..31284351-chr15:72766188..72766795,2	Hela-S3	cervix:
17	chr15:31194465..31197297-chr15:31282167..31285499,3	K562	blood:

Variant related genes	Relation type
MTMR10	TF binding region
ENSG00000239039	Chromatin interaction
ENSG00000197299	Chromatin interaction
ENSG00000177674	Chromatin interaction
ENSG00000100219	Chromatin interaction
ENSG00000166233	Chromatin interaction
ENSG00000198690	Chromatin interaction
ENSG00000226471	Chromatin interaction
ENSG00000207702	Chromatin interaction
ENSG00000134160	Chromatin interaction
ENSG00000198901	Chromatin interaction
ENSG00000168143	Chromatin interaction
ENSG00000259720	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000129696	Chromatin interaction
ENSG00000261423	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10047979	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1043251	0.83[EUR][1000 genomes]
rs1524877	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2339046	0.92[EUR][1000 genomes]
rs2860452	0.88[EUR][1000 genomes]
rs2955778	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2955781	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2955788	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2955789	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2959053	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35971048	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs565	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6493352	0.81[EUR][1000 genomes]
rs7173892	0.82[ASN][1000 genomes]
rs7183478	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8028528	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8040296	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]

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	nsv916936	chr15:30921917-31337510	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv525795	chr15:30936285-31324531	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	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
5	nsv1046874	chr15:31008133-31294654	Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv832951	chr15:31131239-31304469	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	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
10	nsv903834	chr15:31179534-31293774	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	esv33507	chr15:31183324-31471023	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv832952	chr15:31204426-31333998	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	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
14	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31280800-31284400	Active TSS	Placenta	Placenta
2	chr15:31282000-31284600	Active TSS	Esophagus	oesophagus
3	chr15:31282000-31284800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr15:31282200-31284400	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr15:31282200-31284800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr15:31282200-31284800	Active TSS	HMEC	breast
7	chr15:31282200-31285000	Active TSS	HSMM	muscle
8	chr15:31282400-31284200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:31282400-31284200	Active TSS	Fetal Muscle Trunk	muscle
10	chr15:31282400-31284400	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr15:31282400-31284600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr15:31282400-31284600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr15:31282400-31284600	Active TSS	Muscle Satellite Cultured Cells	--
14	chr15:31282400-31284800	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr15:31282400-31284800	Active TSS	H1 Cell Line	embryonic stem cell
16	chr15:31282400-31284800	Active TSS	Colonic Mucosa	Colon
17	chr15:31282400-31284800	Active TSS	HSMMtube	muscle
18	chr15:31282400-31284800	Active TSS	NHLF	lung
19	chr15:31282400-31285000	Active TSS	H9 Cell Line	embryonic stem cell
20	chr15:31282400-31285000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:31282600-31284200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr15:31282600-31284200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr15:31282600-31284200	Active TSS	Fetal Thymus	thymus
24	chr15:31282600-31284400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:31282600-31284400	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr15:31282600-31284400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr15:31282600-31284400	Active TSS	Primary monocytes fromperipheralblood	blood
28	chr15:31282600-31284400	Active TSS	Primary B cells from peripheral blood	blood
29	chr15:31282600-31284400	Active TSS	Brain Cingulate Gyrus	brain
30	chr15:31282600-31284400	Active TSS	Fetal Intestine Small	intestine
31	chr15:31282600-31284400	Active TSS	Fetal Muscle Leg	muscle
32	chr15:31282600-31284400	Active TSS	Pancreas	Pancrea
33	chr15:31282600-31284400	Active TSS	Stomach Mucosa	stomach
34	chr15:31282600-31284400	Active TSS	Thymus	Thymus
35	chr15:31282600-31284400	Active TSS	GM12878-XiMat	blood
36	chr15:31282600-31284600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr15:31282600-31284600	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr15:31282600-31284600	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr15:31282600-31284600	Active TSS	Fetal Intestine Large	intestine
40	chr15:31282600-31284600	Active TSS	Ovary	ovary
41	chr15:31282600-31284600	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr15:31282600-31284600	Active TSS	NHDF-Ad	bronchial
43	chr15:31282600-31284600	Active TSS	NHEK	skin
44	chr15:31282600-31284800	Active TSS	Brain Substantia Nigra	brain
45	chr15:31282600-31284800	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr15:31282600-31284800	Active TSS	Left Ventricle	heart
47	chr15:31282600-31284800	Active TSS	Psoas Muscle	Psoas
48	chr15:31282600-31284800	Active TSS	Right Ventricle	heart
49	chr15:31282600-31285000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr15:31282600-31285000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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