Variant report

Variant	rs12324094
Chromosome Location	chr15:43398788-43398789
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	GABPA	chr15:43397848-43398800	SK-N-SH	brain:	n/a	chr15:43398267-43398274
2	ELK4	chr15:43398078-43399131	Hela-S3	cervix:	n/a	chr15:43398352-43398363 chr15:43398369-43398380
3	MEF2A	chr15:43398326-43398943	K562	blood:	n/a	chr15:43398670-43398684 chr15:43398673-43398682 chr15:43398672-43398683 chr15:43398671-43398682 chr15:43398668-43398689 chr15:43398668-43398689 chr15:43398669-43398684 chr15:43398668-43398689
4	POLR2A	chr15:43397613-43399331	MCF10A-Er-Src	breast:	n/a	n/a
5	GATA1	chr15:43397133-43399027	PBDE	blood:	n/a	chr15:43397433-43397449 chr15:43397437-43397444 chr15:43397437-43397444 chr15:43397437-43397444
6	SIN3AK20	chr15:43397921-43398788	MCF-7	breast:	n/a	n/a
7	POLR2A	chr15:43397619-43398917	Raji	blood:	n/a	n/a
8	CCNT2	chr15:43398119-43398840	K562	blood:	n/a	n/a
9	RFX5	chr15:43397772-43399001	Hela-S3	cervix:	n/a	chr15:43398275-43398290
10	GABPA	chr15:43397735-43398949	MCF-7	breast:	n/a	chr15:43398267-43398274
11	POLR2A	chr15:43397988-43398990	NB4	blood:	n/a	n/a
12	CEBPB	chr15:43397400-43399045	K562	blood:	n/a	chr15:43398828-43398839
13	POLR2A	chr15:43398010-43398819	K562	blood:	n/a	n/a
14	TBP	chr15:43397658-43398934	Hela-S3	cervix:	n/a	chr15:43398527-43398538
15	POLR2A	chr15:43397714-43399118	GM12878	blood:	n/a	n/a
16	E2F4	chr15:43398668-43399028	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT1	chr15:43397535-43399003	Hela-S3	cervix:	n/a	chr15:43398362-43398382 chr15:43398368-43398377 chr15:43398366-43398377 chr15:43398362-43398382 chr15:43398367-43398376 chr15:43398648-43398659 chr15:43398368-43398376
18	POLR2A	chr15:43397822-43399037	HUVEC	blood vessel:	n/a	n/a
19	ZNF384	chr15:43398060-43398961	K562	blood:	n/a	n/a
20	CEBPB	chr15:43398650-43399028	K562	blood:	n/a	chr15:43398828-43398839
21	IRF1	chr15:43398008-43399205	K562	blood:	n/a	chr15:43398649-43398660 chr15:43398640-43398660 chr15:43398644-43398658 chr15:43398645-43398659
22	POLR2A	chr15:43398006-43398979	K562	blood:	n/a	n/a
23	ELF1	chr15:43397900-43398822	HCT-116	colon:	n/a	chr15:43398369-43398378
24	CUX1	chr15:43397391-43398963	K562	blood:	n/a	n/a
25	STAT3	chr15:43398138-43398910	MCF10A-Er-Src	breast:	n/a	chr15:43398362-43398382 chr15:43398368-43398377 chr15:43398362-43398382 chr15:43398367-43398376 chr15:43398648-43398659 chr15:43398366-43398377 chr15:43398368-43398376
26	ZNF384	chr15:43398121-43398921	GM12878	blood:	n/a	n/a
27	CEBPB	chr15:43397491-43399014	Hela-S3	cervix:	n/a	chr15:43398828-43398839
28	POLR2A	chr15:43397569-43398973	GM12878	blood:	n/a	n/a
29	POLR2A	chr15:43397619-43398931	GM18505	blood:	n/a	n/a
30	TBL1XR1	chr15:43398049-43398923	GM12878	blood:	n/a	n/a
31	MTA3	chr15:43397505-43399081	GM12878	blood:	n/a	n/a
32	HEY1	chr15:43397895-43398851	HepG2	liver:	n/a	n/a
33	MYC	chr15:43397787-43398866	K562	blood:	n/a	chr15:43398252-43398262
34	SIN3AK20	chr15:43398040-43398834	MCF-7	breast:	n/a	n/a
35	POLR2A	chr15:43397545-43399074	GM12878	blood:	n/a	n/a
36	MTA3	chr15:43397850-43398791	GM12878	blood:	n/a	n/a
37	TBP	chr15:43397580-43398929	GM12878	blood:	n/a	chr15:43398527-43398538
38	TBL1XR1	chr15:43397809-43398846	K562	blood:	n/a	n/a
39	MAFK	chr15:43398755-43399074	IMR90	lung:	n/a	n/a
40	HCFC1	chr15:43397300-43399195	Hela-S3	cervix:	n/a	n/a
41	MXI1	chr15:43397486-43398931	GM12878	blood:	n/a	n/a
42	MAX	chr15:43397687-43398999	NB4	blood:	n/a	chr15:43398252-43398262
43	POLR2A	chr15:43397878-43398859	U87	brain:	n/a	n/a
44	POLR2A	chr15:43397972-43398836	U87	brain:	n/a	n/a
45	POLR2A	chr15:43397960-43398894	HUVEC	blood vessel:	n/a	n/a
46	STAT3	chr15:43398130-43398903	Hela-S3	cervix:	n/a	chr15:43398362-43398382 chr15:43398368-43398377 chr15:43398362-43398382 chr15:43398367-43398376 chr15:43398648-43398659 chr15:43398366-43398377 chr15:43398368-43398376
47	POLR2A	chr15:43397695-43398851	GM15510	blood:	n/a	n/a
48	CEBPB	chr15:43398708-43398973	A549	lung:	n/a	chr15:43398828-43398839
49	POLR2A	chr15:43398026-43399158	K562	blood:	n/a	n/a
50	CEBPB	chr15:43398468-43399017	HepG2	liver:	n/a	chr15:43398828-43398839

No.	Distal block	Cell Line	Cell type
1	chr15:43398098..43400146-chr15:43707936..43709689,2	K562	blood:
2	chr15:43396979..43399675-chr15:43425245..43427228,2	MCF-7	breast:
3	chr15:43397628..43400398-chr15:43414771..43418048,4	MCF-7	breast:
4	chr15:43398347..43398933-chr15:43477332..43478080,2	NB4	blood:
5	chr15:43398288..43398793-chr19:2050787..2051312,2	NB4	blood:
6	chr15:43397983..43399514-chr15:43421683..43423629,2	K562	blood:
7	chr15:43397435..43400079-chr15:43619938..43624138,3	K562	blood:
8	chr15:43395932..43399418-chr15:43425897..43428585,4	K562	blood:

Variant related genes	Relation type
UBR1	TF binding region
ENSG00000067369	Chromatin interaction
ENSG00000261687	Chromatin interaction
ENSG00000137842	Chromatin interaction
ENSG00000168806	Chromatin interaction
ENSG00000260928	Chromatin interaction
ENSG00000168803	Chromatin interaction
ENSG00000166946	Chromatin interaction
ENSG00000099875	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10048057	1.00[EUR][1000 genomes]
rs10083725	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10152237	0.90[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10220812	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1042168	1.00[EUR][1000 genomes]
rs10438267	1.00[EUR][1000 genomes]
rs1078243	1.00[EUR][1000 genomes]
rs11504654	1.00[EUR][1000 genomes]
rs11504655	1.00[EUR][1000 genomes]
rs12324436	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12324573	1.00[EUR][1000 genomes]
rs1474199	1.00[EUR][1000 genomes]
rs1520519	0.90[YRI][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16957409	1.00[EUR][1000 genomes]
rs16957462	0.90[YRI][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16957499	1.00[EUR][1000 genomes]
rs16957502	1.00[EUR][1000 genomes]
rs16957507	1.00[EUR][1000 genomes]
rs1863601	1.00[EUR][1000 genomes]
rs2271964	1.00[EUR][1000 genomes]
rs2271965	1.00[EUR][1000 genomes]
rs28444219	1.00[EUR][1000 genomes]
rs28539201	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3177296	1.00[EUR][1000 genomes]
rs34222269	1.00[EUR][1000 genomes]
rs505276	1.00[EUR][1000 genomes]
rs58059509	1.00[EUR][1000 genomes]
rs59401274	1.00[EUR][1000 genomes]
rs59900401	1.00[EUR][1000 genomes]
rs60435696	1.00[EUR][1000 genomes]
rs60481556	1.00[EUR][1000 genomes]
rs61268760	1.00[EUR][1000 genomes]
rs61343376	1.00[EUR][1000 genomes]
rs61711558	1.00[EUR][1000 genomes]
rs7162620	1.00[EUR][1000 genomes]
rs7162971	1.00[EUR][1000 genomes]
rs7171797	1.00[EUR][1000 genomes]
rs7176183	1.00[EUR][1000 genomes]
rs7182685	1.00[EUR][1000 genomes]
rs7183024	1.00[EUR][1000 genomes]
rs8030850	1.00[EUR][1000 genomes]
rs8035881	1.00[EUR][1000 genomes]
rs8039342	1.00[EUR][1000 genomes]
rs8040769	1.00[EUR][1000 genomes]
rs8040960	1.00[EUR][1000 genomes]
rs8041312	1.00[EUR][1000 genomes]
rs9806236	1.00[EUR][1000 genomes]
rs9806629	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9972314	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525461	chr15:43062548-43482127	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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
3	nsv515876	chr15:43116906-43445305	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv569240	chr15:43201109-43445305	Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv569241	chr15:43201109-43522922	Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv569242	chr15:43210030-43445305	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv904136	chr15:43257475-43482127	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv904138	chr15:43268970-43414673	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv904139	chr15:43268970-43482127	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised 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	28 gene(s)	inside rSNPs	diseases
10	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
11	nsv904142	chr15:43276345-43403955	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv904143	chr15:43276345-43414673	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv904144	chr15:43276345-43482127	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
14	nsv904146	chr15:43294218-43414673	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv904147	chr15:43309429-43403955	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	esv1802035	chr15:43370916-43487742	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43396200-43399000	Active TSS	Right Atrium	heart
2	chr15:43396400-43399400	Active TSS	GM12878-XiMat	blood
3	chr15:43396600-43398800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr15:43396600-43398800	Active TSS	Fetal Brain Female	brain
5	chr15:43396600-43399000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr15:43396600-43399000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr15:43396600-43399000	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr15:43396600-43399000	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr15:43396600-43399000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr15:43396600-43399000	Active TSS	HSMM	muscle
11	chr15:43396600-43399200	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr15:43396600-43399200	Active TSS	A549	lung
13	chr15:43396800-43398800	Active TSS	Left Ventricle	heart
14	chr15:43396800-43398800	Active TSS	NHDF-Ad	bronchial
15	chr15:43396800-43399000	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr15:43396800-43399000	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr15:43396800-43399000	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr15:43396800-43399000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr15:43396800-43399000	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr15:43396800-43399000	Active TSS	Psoas Muscle	Psoas
21	chr15:43396800-43399000	Active TSS	Right Ventricle	heart
22	chr15:43396800-43399200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:43396800-43399200	Active TSS	K562	blood
24	chr15:43397000-43398800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr15:43397000-43398800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr15:43397000-43398800	Active TSS	Brain Anterior Caudate	brain
27	chr15:43397000-43398800	Active TSS	Stomach Smooth Muscle	stomach
28	chr15:43397000-43399200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr15:43397000-43399200	Active TSS	HMEC	breast
30	chr15:43397000-43399200	Active TSS	NHLF	lung
31	chr15:43397200-43398800	Active TSS	Fetal Intestine Large	intestine
32	chr15:43397200-43398800	Active TSS	Fetal Intestine Small	intestine
33	chr15:43397200-43398800	Active TSS	HSMMtube	muscle
34	chr15:43397200-43399000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr15:43397200-43399000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr15:43397200-43399000	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr15:43397200-43399000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr15:43397200-43399000	Active TSS	Colonic Mucosa	Colon
39	chr15:43397200-43399000	Active TSS	Fetal Muscle Trunk	muscle
40	chr15:43397200-43399200	Active TSS	H1 Cell Line	embryonic stem cell
41	chr15:43397200-43399200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr15:43397400-43398800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr15:43397400-43398800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:43397400-43398800	Active TSS	H9 Cell Line	embryonic stem cell
45	chr15:43397400-43398800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr15:43397400-43398800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr15:43397400-43398800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr15:43397400-43398800	Active TSS	Esophagus	oesophagus
49	chr15:43397400-43398800	Active TSS	Fetal Brain Male	brain
50	chr15:43397400-43398800	Active TSS	Gastric	stomach

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