Variant report

Variant	rs72752375
Chromosome Location	chr9:98174063-98174064
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr9:98173839-98174293	K562	blood:	n/a	n/a
2	BHLHE40	chr9:98173765-98174268	K562	blood:	n/a	n/a
3	EGR1	chr9:98173905-98174159	K562	blood:	n/a	n/a
4	POLR2A	chr9:98173847-98174261	K562	blood:	n/a	n/a
5	TRIM28	chr9:98173788-98174248	K562	blood:	n/a	n/a
6	E2F6	chr9:98173826-98174225	K562	blood:	n/a	n/a
7	MYC	chr9:98173813-98174279	K562	blood:	n/a	n/a
8	RCOR1	chr9:98173855-98174271	K562	blood:	n/a	n/a
9	GATA2	chr9:98173861-98174274	K562	blood:	n/a	n/a
10	STAT5A	chr9:98173862-98174262	K562	blood:	n/a	chr9:98174199-98174206
11	POLR2A	chr9:98173820-98174261	K562	blood:	n/a	n/a
12	EGR1	chr9:98173875-98174222	K562	blood:	n/a	n/a
13	GABPA	chr9:98173876-98174169	K562	blood:	n/a	n/a
14	ZMIZ1	chr9:98173810-98174237	K562	blood:	n/a	n/a
15	MYC	chr9:98173788-98174332	K562	blood:	n/a	chr9:98173798-98173807
16	MAX	chr9:98173611-98174354	K562	blood:	n/a	chr9:98173798-98173807
17	E2F6	chr9:98173755-98174309	K562	blood:	n/a	n/a
18	SMC3	chr9:98173880-98174221	K562	blood:	n/a	n/a
19	ZNF263	chr9:98173878-98174180	HEK293-T-REx	kidney:	n/a	chr9:98174061-98174082
20	TBL1XR1	chr9:98173884-98174234	K562	blood:	n/a	n/a
21	POLR2A	chr9:98173856-98174313	K562	blood:	n/a	n/a
22	MYC	chr9:98173823-98174297	K562	blood:	n/a	n/a
23	PML	chr9:98173792-98174325	K562	blood:	n/a	n/a
24	ZBTB7A	chr9:98173938-98174144	K562	blood:	n/a	n/a
25	ZNF143	chr9:98173887-98174253	K562	blood:	n/a	n/a
26	E2F6	chr9:98173885-98174218	K562	blood:	n/a	n/a
27	ELF1	chr9:98173888-98174183	K562	blood:	n/a	n/a
28	MAZ	chr9:98173772-98174274	K562	blood:	n/a	chr9:98173798-98173807
29	NR2F2	chr9:98173919-98174219	K562	blood:	n/a	n/a
30	MAX	chr9:98173794-98174288	K562	blood:	n/a	chr9:98173798-98173807
31	PML	chr9:98173864-98174276	K562	blood:	n/a	n/a
32	MAX	chr9:98173740-98174304	K562	blood:	n/a	chr9:98173798-98173807
33	STAT5A	chr9:98173815-98174320	K562	blood:	n/a	chr9:98174199-98174206
34	POLR2A	chr9:98173917-98174146	K562	blood:	n/a	n/a
35	RCOR1	chr9:98173820-98174308	K562	blood:	n/a	n/a
36	MYC	chr9:98173802-98174345	K562	blood:	n/a	n/a
37	CEBPB	chr9:98173864-98174224	K562	blood:	n/a	chr9:98174160-98174168
38	POLR2A	chr9:98173718-98174569	K562	blood:	n/a	n/a
39	MYC	chr9:98173872-98174187	K562	blood:	n/a	n/a
40	TAL1	chr9:98173823-98174324	K562	blood:	n/a	n/a
41	MXI1	chr9:98173968-98174214	K562	blood:	n/a	n/a
42	CEBPD	chr9:98173895-98174354	K562	blood:	n/a	n/a
43	ZNF263	chr9:98173736-98174343	K562	blood:	n/a	chr9:98174061-98174082
44	TBL1XR1	chr9:98173775-98174274	K562	blood:	n/a	n/a
45	EP300	chr9:98173890-98174293	K562	blood:	n/a	n/a
46	GABPA	chr9:98173859-98174371	K562	blood:	n/a	n/a
47	HDAC2	chr9:98173970-98174265	K562	blood:	n/a	n/a
48	HMGN3	chr9:98173856-98174190	K562	blood:	n/a	n/a
49	TEAD4	chr9:98173823-98174315	K562	blood:	n/a	n/a
50	SIN3AK20	chr9:98173852-98174237	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:98171235..98175849-chr9:98186797..98190089,10	MCF-7	breast:
2	chr9:98170943..98174116-chr9:98263782..98265821,3	K562	blood:
3	chr9:98173705..98177734-chr9:98187506..98190870,3	MCF-7	breast:
4	chr9:98172979..98174989-chr9:98178552..98180377,2	MCF-7	breast:
5	chr9:98173730..98177988-chr9:98187520..98191004,5	K562	blood:
6	chr9:98172180..98174810-chr9:98179006..98181290,3	MCF-7	breast:
7	chr9:98169863..98171382-chr9:98172486..98174897,2	K562	blood:
8	chr9:98172380..98174560-chr9:98273339..98275804,2	K562	blood:
9	chr9:98171854..98174072-chr9:98176315..98178311,2	MCF-7	breast:
10	chr9:98172999..98174883-chr9:98177754..98179425,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271384	TF binding region
ENSG00000271384	Chromatin interaction
ENSG00000237857	Chromatin interaction
ENSG00000185920	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10761388	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10993531	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10993532	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12338443	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13289815	0.90[EUR][1000 genomes]
rs17295814	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2026077	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2202303	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28698272	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34392622	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35006976	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7854702	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7860361	0.88[EUR][1000 genomes];0.85[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	nsv831657	chr9:97959274-98204769	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv531633	chr9:98078300-98431120	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv831658	chr9:98152971-98342178	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1051731	chr9:98154815-98201115	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98160400-98188400	Weak transcription	Pancreas	Pancrea
2	chr9:98169800-98183600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr9:98169800-98183800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr9:98172000-98174400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr9:98172400-98174800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:98172800-98176000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr9:98172800-98183600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr9:98173000-98174600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr9:98173000-98175000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr9:98173000-98176000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr9:98173000-98177600	Weak transcription	NHLF	lung
12	chr9:98173000-98181200	Weak transcription	NHEK	skin
13	chr9:98173000-98183600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr9:98173200-98176000	Weak transcription	A549	lung
15	chr9:98173200-98183400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr9:98173200-98184000	Weak transcription	Fetal Intestine Large	intestine
17	chr9:98173400-98174400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:98173400-98174400	Weak transcription	Fetal Stomach	stomach
19	chr9:98173400-98184000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr9:98173600-98174200	Strong transcription	Fetal Intestine Small	intestine
21	chr9:98173600-98174600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr9:98173600-98174800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr9:98173600-98175400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr9:98173600-98188200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr9:98173800-98174200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr9:98173800-98174200	Flanking Active TSS	K562	blood
27	chr9:98173800-98174600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:98173800-98174600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr9:98173800-98184000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:98174000-98174600	Enhancers	Brain Anterior Caudate	brain
31	chr9:98174000-98183800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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