Variant report

Variant	rs12685168
Chromosome Location	chr9:93196286-93196287
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr9:93195090-93196546	ECC-1	luminal epithelium:	n/a	n/a
2	CREB1	chr9:93195686-93196317	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr9:93195745-93196592	ECC-1	luminal epithelium:	n/a	chr9:93196560-93196571 chr9:93196444-93196455
4	CTBP2	chr9:93195789-93196290	H1-hESC	embryonic stem cell:	n/a	n/a
5	FOXM1	chr9:93195432-93196691	ECC-1	luminal epithelium:	n/a	n/a
6	USF1	chr9:93195643-93196402	ECC-1	luminal epithelium:	n/a	n/a
7	SIN3A	chr9:93195464-93196302	H1-hESC	embryonic stem cell:	n/a	n/a
8	RAD21	chr9:93195250-93196311	MCF-7	breast:	n/a	n/a
9	KAP1	chr9:93195193-93196494	HEK293	kidney:	n/a	n/a
10	MAX	chr9:93195208-93196387	MCF-7	breast:	n/a	n/a
11	FOXM1	chr9:93195510-93196643	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr9:93195338-93196339	H1-neurons	neurons:	n/a	n/a
13	MAX	chr9:93195665-93196288	A549	lung:	n/a	n/a
14	ZNF263	chr9:93195305-93196543	HEK293-T-REx	kidney:	n/a	chr9:93196261-93196282
15	CEBPB	chr9:93195671-93196699	ECC-1	luminal epithelium:	n/a	chr9:93196560-93196571 chr9:93196444-93196455
16	TEAD4	chr9:93195936-93196345	H1-hESC	embryonic stem cell:	n/a	n/a
17	RAD21	chr9:93195245-93196477	ECC-1	luminal epithelium:	n/a	n/a
18	EP300	chr9:93195562-93196513	ECC-1	luminal epithelium:	n/a	chr9:93196443-93196457
19	TCF12	chr9:93195503-93196606	ECC-1	luminal epithelium:	n/a	n/a
20	ESR1	chr9:93195654-93196314	ECC-1	luminal epithelium:	n/a	n/a
21	RAD21	chr9:93195290-93196354	MCF-7	breast:	n/a	n/a
22	KAP1	chr9:93195393-93196566	U2OS	brain:	n/a	n/a
23	REST	chr9:93195034-93196680	H1-neurons	neurons:	n/a	n/a
24	SP1	chr9:93195728-93196296	H1-hESC	embryonic stem cell:	n/a	chr9:93196014-93196025
25	NR3C1	chr9:93195647-93196326	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr9:93195310-93196346	H1-neurons	neurons:	n/a	n/a
27	TEAD4	chr9:93195686-93196304	H1-hESC	embryonic stem cell:	n/a	n/a
28	REST	chr9:93195580-93196517	H1-neurons	neurons:	n/a	n/a
29	MAX	chr9:93195866-93196338	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr9:93195841-93196315	H1-hESC	embryonic stem cell:	n/a	n/a
31	EP300	chr9:93195193-93196575	ECC-1	luminal epithelium:	n/a	chr9:93196443-93196457
32	TEAD4	chr9:93195652-93196516	ECC-1	luminal epithelium:	n/a	n/a
33	TAF1	chr9:93195571-93196294	ECC-1	luminal epithelium:	n/a	n/a
34	CREB1	chr9:93195516-93196286	ECC-1	luminal epithelium:	n/a	n/a
35	YY1	chr9:93195650-93196447	ECC-1	luminal epithelium:	n/a	n/a
36	MAX	chr9:93195927-93196352	H1-hESC	embryonic stem cell:	n/a	n/a
37	HDAC2	chr9:93195907-93196343	H1-hESC	embryonic stem cell:	n/a	n/a
38	ESR1	chr9:93195691-93196306	ECC-1	luminal epithelium:	n/a	n/a
39	TCF12	chr9:93195400-93196663	ECC-1	luminal epithelium:	n/a	n/a
40	MAX	chr9:93195324-93196361	A549	lung:	n/a	n/a
41	YY1	chr9:93195905-93196417	ECC-1	luminal epithelium:	n/a	n/a
42	NR3C1	chr9:93195639-93196291	ECC-1	luminal epithelium:	n/a	n/a
43	TEAD4	chr9:93195348-93196605	ECC-1	luminal epithelium:	n/a	n/a
44	MAX	chr9:93195169-93196552	ECC-1	luminal epithelium:	n/a	n/a
45	NFIC	chr9:93195521-93196601	ECC-1	luminal epithelium:	n/a	n/a
46	NFIC	chr9:93195471-93196719	ECC-1	luminal epithelium:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000231107	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1365368	0.82[ASN][1000 genomes]
rs2114345	0.84[CHB][hapmap];0.83[ASN][1000 genomes]
rs2114346	0.83[ASN][1000 genomes]
rs4744434	0.82[ASN][1000 genomes]
rs6479594	0.84[CHB][hapmap];0.82[ASN][1000 genomes]
rs6479602	0.84[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs7037348	0.84[CHB][hapmap];0.92[JPT][hapmap]
rs890427	0.84[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs890428	0.81[ASN][1000 genomes]
rs981129	0.84[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041278	chr9:92965701-93560454	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv482748	chr9:93123377-93279526	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv893565	chr9:93130796-93392332	Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv614853	chr9:93183404-93266508	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93194800-93196400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr9:93195000-93197000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr9:93195200-93196400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:93195200-93196400	Bivalent Enhancer	Fetal Brain Male	brain
5	chr9:93195200-93196600	Enhancers	Fetal Heart	heart
6	chr9:93195200-93199200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:93195400-93196400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:93195400-93196400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:93195600-93196400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr9:93195600-93196400	Active TSS	H9 Cell Line	embryonic stem cell
11	chr9:93195600-93196400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr9:93195600-93196600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
13	chr9:93195800-93196400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
14	chr9:93195800-93204000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr9:93196000-93196400	Active TSS	Brain Cingulate Gyrus	brain
16	chr9:93196000-93196400	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr9:93196000-93196400	Enhancers	Fetal Kidney	kidney
18	chr9:93196000-93196400	Active TSS	NH-A	brain
19	chr9:93196000-93197400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr9:93196200-93196400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:93196200-93196400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr9:93196200-93196400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
23	chr9:93196200-93196400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
24	chr9:93196200-93196400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr9:93196200-93196400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr9:93196200-93196400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr9:93196200-93196400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr9:93196200-93196400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr9:93196200-93196400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr9:93196200-93196400	Enhancers	Fetal Intestine Small	intestine
31	chr9:93196200-93196400	Enhancers	Placenta	Placenta
32	chr9:93196200-93196400	Flanking Active TSS	A549	lung
33	chr9:93196200-93196600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
34	chr9:93196200-93196600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
35	chr9:93196200-93196600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr9:93196200-93220800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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