Variant report

Variant	rs2114346
Chromosome Location	chr9:93195792-93195793
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:58)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:58 , 50 per page) page: 1 2

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	POLR2A	chr9:93195251-93196275	ECC-1	luminal epithelium:	n/a	n/a
4	CEBPB	chr9:93195745-93196592	ECC-1	luminal epithelium:	n/a	chr9:93196560-93196571 chr9:93196444-93196455
5	CTBP2	chr9:93195789-93196290	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr9:93195645-93196252	ECC-1	luminal epithelium:	n/a	n/a
7	FOXM1	chr9:93195432-93196691	ECC-1	luminal epithelium:	n/a	n/a
8	USF1	chr9:93195643-93196402	ECC-1	luminal epithelium:	n/a	n/a
9	SIN3A	chr9:93195464-93196302	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr9:93195250-93196311	MCF-7	breast:	n/a	n/a
11	KAP1	chr9:93195193-93196494	HEK293	kidney:	n/a	n/a
12	MAX	chr9:93195208-93196387	MCF-7	breast:	n/a	n/a
13	FOXM1	chr9:93195510-93196643	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr9:93195338-93196339	H1-neurons	neurons:	n/a	n/a
15	MAX	chr9:93195665-93196288	A549	lung:	n/a	n/a
16	CREB1	chr9:93195644-93196246	ECC-1	luminal epithelium:	n/a	n/a
17	ZNF263	chr9:93195305-93196543	HEK293-T-REx	kidney:	n/a	chr9:93196261-93196282
18	CEBPB	chr9:93195671-93196699	ECC-1	luminal epithelium:	n/a	chr9:93196560-93196571 chr9:93196444-93196455
19	BACH1	chr9:93195766-93196225	H1-hESC	embryonic stem cell:	n/a	n/a
20	RAD21	chr9:93195245-93196477	ECC-1	luminal epithelium:	n/a	n/a
21	EP300	chr9:93195562-93196513	ECC-1	luminal epithelium:	n/a	chr9:93196443-93196457
22	TCF12	chr9:93195503-93196606	ECC-1	luminal epithelium:	n/a	n/a
23	ESR1	chr9:93195654-93196314	ECC-1	luminal epithelium:	n/a	n/a
24	RAD21	chr9:93195290-93196354	MCF-7	breast:	n/a	n/a
25	KAP1	chr9:93195393-93196566	U2OS	brain:	n/a	n/a
26	REST	chr9:93195034-93196680	H1-neurons	neurons:	n/a	n/a
27	ESR1	chr9:93195706-93196284	ECC-1	luminal epithelium:	n/a	n/a
28	SP1	chr9:93195728-93196296	H1-hESC	embryonic stem cell:	n/a	chr9:93196014-93196025
29	NR3C1	chr9:93195647-93196326	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr9:93195310-93196346	H1-neurons	neurons:	n/a	n/a
31	TEAD4	chr9:93195686-93196304	H1-hESC	embryonic stem cell:	n/a	n/a
32	EP300	chr9:93195571-93196161	T-47D	breast:	n/a	n/a
33	POLR2A	chr9:93195694-93195831	H1-hESC	embryonic stem cell:	n/a	n/a
34	REST	chr9:93195580-93196517	H1-neurons	neurons:	n/a	n/a
35	EP300	chr9:93195193-93196575	ECC-1	luminal epithelium:	n/a	chr9:93196443-93196457
36	MYC	chr9:93195741-93195803	MCF-7	breast:	n/a	n/a
37	TEAD4	chr9:93195652-93196516	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr9:93195528-93196268	ECC-1	luminal epithelium:	n/a	n/a
39	TAF1	chr9:93195571-93196294	ECC-1	luminal epithelium:	n/a	n/a
40	CREB1	chr9:93195516-93196286	ECC-1	luminal epithelium:	n/a	n/a
41	FOXA1	chr9:93195548-93196128	T-47D	breast:	n/a	n/a
42	POLR2A	chr9:93195699-93195870	MCF-7	breast:	n/a	n/a
43	FOXA1	chr9:93195765-93196157	T-47D	breast:	n/a	n/a
44	POLR2A	chr9:93195726-93195794	Gliobla	brain:	n/a	n/a
45	MAX	chr9:93195753-93196209	H1-hESC	embryonic stem cell:	n/a	n/a
46	YY1	chr9:93195650-93196447	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr9:93195519-93196212	MCF-7	breast:	n/a	n/a
48	ESR1	chr9:93195691-93196306	ECC-1	luminal epithelium:	n/a	n/a
49	TCF12	chr9:93195400-93196663	ECC-1	luminal epithelium:	n/a	n/a
50	MAX	chr9:93195324-93196361	A549	lung:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000231107	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10733754	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12685168	0.83[ASN][1000 genomes]
rs1365368	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2104690	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2114345	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2798041	1.00[JPT][hapmap]
rs4744434	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6479594	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6479602	1.00[CEU][hapmap];0.93[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7037348	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7865399	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs890427	1.00[CEU][hapmap];0.93[CHB][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs890428	0.95[ASN][1000 genomes]
rs981129	1.00[CEU][hapmap];0.93[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs992224	0.82[JPT][hapmap]

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:49 , 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	chr9:93195200-93195800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:93195200-93195800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr9:93195200-93195800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:93195200-93195800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:93195200-93196000	Enhancers	Fetal Lung	lung
8	chr9:93195200-93196400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:93195200-93196400	Bivalent Enhancer	Fetal Brain Male	brain
10	chr9:93195200-93196600	Enhancers	Fetal Heart	heart
11	chr9:93195200-93199200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr9:93195400-93195800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
13	chr9:93195400-93195800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:93195400-93195800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr9:93195400-93195800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr9:93195400-93195800	Enhancers	Fetal Intestine Large	intestine
17	chr9:93195400-93195800	Enhancers	Fetal Intestine Small	intestine
18	chr9:93195400-93195800	Flanking Active TSS	A549	lung
19	chr9:93195400-93196000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr9:93195400-93196000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr9:93195400-93196000	Flanking Active TSS	Fetal Kidney	kidney
22	chr9:93195400-93196000	Enhancers	Stomach Mucosa	stomach
23	chr9:93195400-93196000	Flanking Active TSS	NH-A	brain
24	chr9:93195400-93196000	Flanking Active TSS	NHEK	skin
25	chr9:93195400-93196200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr9:93195400-93196200	Active TSS	Brain Anterior Caudate	brain
27	chr9:93195400-93196200	Enhancers	Esophagus	oesophagus
28	chr9:93195400-93196200	Enhancers	Pancreas	Pancrea
29	chr9:93195400-93196400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr9:93195400-93196400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:93195600-93195800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
32	chr9:93195600-93195800	Active TSS	Adipose Nuclei	Adipose
33	chr9:93195600-93195800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr9:93195600-93195800	Enhancers	Placenta	Placenta
35	chr9:93195600-93195800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
36	chr9:93195600-93196000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr9:93195600-93196000	Enhancers	Fetal Muscle Leg	muscle
38	chr9:93195600-93196000	Active TSS	Gastric	stomach
39	chr9:93195600-93196000	Enhancers	HMEC	breast
40	chr9:93195600-93196200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr9:93195600-93196200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr9:93195600-93196200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr9:93195600-93196200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr9:93195600-93196200	Active TSS	Duodenum Mucosa	Duodenum
45	chr9:93195600-93196200	Flanking Active TSS	Fetal Stomach	stomach
46	chr9:93195600-93196400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
47	chr9:93195600-93196400	Active TSS	H9 Cell Line	embryonic stem cell
48	chr9:93195600-93196400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr9:93195600-93196600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell

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