Variant report

Variant	rs12324621
Chromosome Location	chr15:99644930-99644931
allele	C/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	chr15:99644899-99645327	SK-N-SH_RA	brain:	n/a	chr15:99645292-99645308
2	ZBTB7A	chr15:99644918-99645265	ECC-1	luminal epithelium:	n/a	chr15:99645151-99645160
3	MAX	chr15:99644834-99646274	HepG2	liver:	n/a	chr15:99645146-99645156
4	CTCF	chr15:99644850-99645359	A549	lung:	n/a	chr15:99645144-99645160 chr15:99645126-99645139 chr15:99645146-99645159
5	CTCF	chr15:99644871-99645378	H1-hESC	embryonic stem cell:	n/a	chr15:99645144-99645160 chr15:99645126-99645139 chr15:99645146-99645159
6	MAX	chr15:99644908-99645534	SK-N-SH	brain:	n/a	chr15:99645146-99645156
7	RAD21	chr15:99644920-99645412	IMR90	lung:	n/a	chr15:99645127-99645140 chr15:99645149-99645161 chr15:99645149-99645159
8	CREB1	chr15:99644870-99646275	A549	lung:	n/a	n/a
9	RAD21	chr15:99644838-99645350	SK-N-SH_RA	brain:	n/a	chr15:99645127-99645140 chr15:99645149-99645161 chr15:99645149-99645159
10	CTCF	chr15:99644889-99645423	MCF-7	breast:	n/a	chr15:99645144-99645160 chr15:99645126-99645139 chr15:99645146-99645159
11	SMC3	chr15:99644884-99647125	SK-N-SH	brain:	n/a	chr15:99645149-99645159
12	MAX	chr15:99644889-99646514	H1-hESC	embryonic stem cell:	n/a	chr15:99645146-99645156 chr15:99646282-99646291
13	SMC3	chr15:99644907-99645456	Hela-S3	cervix:	n/a	chr15:99645149-99645159
14	CTCF	chr15:99644887-99645404	MCF-7	breast:	n/a	chr15:99645144-99645160 chr15:99645126-99645139 chr15:99645146-99645159
15	CTCF	chr15:99644879-99645295	HepG2	liver:	n/a	chr15:99645144-99645160 chr15:99645126-99645139 chr15:99645146-99645159
16	YY1	chr15:99644927-99645847	HepG2	liver:	n/a	chr15:99645228-99645242 chr15:99645301-99645312 chr15:99645146-99645157 chr15:99645241-99645255
17	RAD21	chr15:99644841-99645563	HCT-116	colon:	n/a	chr15:99645127-99645140 chr15:99645149-99645161 chr15:99645149-99645159
18	POLR2A	chr15:99644920-99645536	PANC-1	pancreas:	n/a	n/a
19	CTCF	chr15:99644881-99645262	HCT-116	colon:	n/a	chr15:99645144-99645160 chr15:99645126-99645139 chr15:99645146-99645159
20	ATF3	chr15:99644815-99645555	A549	lung:	n/a	chr15:99645174-99645183 chr15:99645241-99645250
21	NRF1	chr15:99644883-99646442	SK-N-SH	brain:	n/a	chr15:99645093-99645102
22	FOXA2	chr15:99644901-99645440	A549	lung:	n/a	n/a
23	EP300	chr15:99644823-99645605	ECC-1	luminal epithelium:	n/a	chr15:99645292-99645308
24	MYBL2	chr15:99644866-99645421	HepG2	liver:	n/a	n/a
25	CTCF	chr15:99644869-99645275	HepG2	liver:	n/a	chr15:99645144-99645160 chr15:99645126-99645139 chr15:99645146-99645159
26	E2F6	chr15:99644879-99646633	H1-hESC	embryonic stem cell:	n/a	chr15:99644956-99644973 chr15:99645503-99645511 chr15:99645194-99645203 chr15:99645093-99645102 chr15:99646410-99646420
27	TCF12	chr15:99644747-99645674	A549	lung:	n/a	chr15:99645357-99645367 chr15:99645142-99645149
28	MAX	chr15:99644895-99646602	H1-hESC	embryonic stem cell:	n/a	chr15:99645146-99645156 chr15:99646282-99646291
29	MYC	chr15:99644830-99646229	A549	lung:	n/a	chr15:99645146-99645156
30	MAX	chr15:99644894-99646254	ECC-1	luminal epithelium:	n/a	chr15:99645146-99645156
31	CTCF	chr15:99644911-99645331	ECC-1	luminal epithelium:	n/a	chr15:99645144-99645160 chr15:99645126-99645139 chr15:99645146-99645159
32	CTCF	chr15:99644900-99645050	WI-38	lung:	n/a	n/a
33	MAX	chr15:99644913-99646236	HepG2	liver:	n/a	chr15:99645146-99645156
34	SIN3AK20	chr15:99644919-99645279	SK-N-SH	brain:	n/a	n/a
35	CTCF	chr15:99644910-99645331	A549	lung:	n/a	chr15:99645144-99645160 chr15:99645126-99645139 chr15:99645146-99645159
36	MAX	chr15:99644827-99645641	MCF-7	breast:	n/a	chr15:99645146-99645156
37	TAF7	chr15:99644907-99645477	H1-hESC	embryonic stem cell:	n/a	n/a
38	GATA3	chr15:99644879-99645659	A549	lung:	n/a	n/a
39	POLR2A	chr15:99644908-99646447	A549	lung:	n/a	n/a
40	MAX	chr15:99644790-99646713	A549	lung:	n/a	chr15:99645146-99645156 chr15:99646282-99646291
41	E2F6	chr15:99644880-99646543	A549	lung:	n/a	chr15:99644956-99644973 chr15:99645503-99645511 chr15:99645194-99645203 chr15:99645093-99645102 chr15:99646410-99646420
42	SP1	chr15:99644819-99645620	A549	lung:	n/a	chr15:99645091-99645103 chr15:99645183-99645204
43	RAD21	chr15:99644847-99645648	A549	lung:	n/a	chr15:99645127-99645140 chr15:99645149-99645161 chr15:99645149-99645159
44	CTCF	chr15:99644802-99645423	A549	lung:	n/a	chr15:99645144-99645160 chr15:99645126-99645139 chr15:99645146-99645159
45	CTCF	chr15:99644920-99645070	GM12873	blood:	n/a	n/a
46	POLR2A	chr15:99644907-99645576	PANC-1	pancreas:	n/a	n/a
47	HCFC1	chr15:99644784-99645617	Hela-S3	cervix:	n/a	n/a
48	RAD21	chr15:99644860-99645514	HCT-116	colon:	n/a	chr15:99645127-99645140 chr15:99645149-99645161 chr15:99645149-99645159
49	TCF12	chr15:99644870-99645766	ECC-1	luminal epithelium:	n/a	chr15:99645357-99645367 chr15:99645142-99645149
50	ZEB1	chr15:99644927-99645181	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:99644709..99645388-chr15:99791744..99792284,2	MCF-7	breast:
2	chr15:99643812..99646594-chr15:99789555..99792592,4	MCF-7	breast:

Variant related genes	Relation type
SYNM	TF binding region
ENSG00000103852	Chromatin interaction
ENSG00000168904	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11630908	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437590	0.86[EUR][1000 genomes]
rs55756566	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73476341	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73476344	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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	nsv533375	chr15:99443534-99696221	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription 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	29 gene(s)	inside rSNPs	diseases
5	nsv1050982	chr15:99450004-99725825	Enhancers Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS 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	nsv530685	chr15:99452377-99713365	Bivalent/Poised TSS Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer 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
7	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
8	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
9	nsv1038870	chr15:99510479-99768374	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Strong transcription 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	23 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	nsv904544	chr15:99524865-99655744	Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
14	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
15	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
16	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
17	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
18	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
19	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
20	esv3364884	chr15:99643929-99647227	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	esv20801	chr15:99644218-99646022	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:99640800-99645000	Weak transcription	Pancreas	Pancrea
2	chr15:99641000-99645000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr15:99641000-99645000	Weak transcription	Right Ventricle	heart
4	chr15:99641000-99645200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:99641000-99645200	Weak transcription	Gastric	stomach
6	chr15:99641200-99645200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr15:99641200-99645200	Weak transcription	Colon Smooth Muscle	Colon
8	chr15:99641200-99645400	Weak transcription	Brain Substantia Nigra	brain
9	chr15:99643000-99645200	Weak transcription	A549	lung
10	chr15:99643400-99645000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr15:99643400-99645200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr15:99643600-99645000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr15:99643800-99645000	Weak transcription	Adipose Nuclei	Adipose
14	chr15:99643800-99645000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr15:99643800-99645200	Weak transcription	Psoas Muscle	Psoas
16	chr15:99644000-99645200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:99644800-99645000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr15:99644800-99645000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr15:99644800-99645000	Bivalent/Poised TSS	Colonic Mucosa	Colon
20	chr15:99644800-99645200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr15:99644800-99645200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
22	chr15:99644800-99645200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:99644800-99645200	Bivalent Enhancer	Fetal Thymus	thymus
24	chr15:99644800-99645400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr15:99644800-99645600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr15:99644800-99646000	Active TSS	Stomach Smooth Muscle	stomach
27	chr15:99644800-99646000	Active TSS	HepG2	liver
28	chr15:99644800-99646200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr15:99644800-99646200	Enhancers	Liver	Liver
30	chr15:99644800-99646200	Active TSS	Hela-S3	cervix
31	chr15:99644800-99646400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr15:99644800-99646600	Active TSS	NHLF	lung
33	chr15:99644800-99646600	Active TSS	Osteobl	bone
34	chr15:99644800-99646800	Active TSS	Brain Angular Gyrus	brain
35	chr15:99644800-99647200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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