Variant report

Variant	rs7875158
Chromosome Location	chr9:99994932-99994933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr9:99994599-99994993	K562	blood:	n/a	n/a
2	CBX3	chr9:99994472-99995102	K562	blood:	n/a	n/a
3	TAL1	chr9:99994518-99995018	K562	blood:	n/a	n/a
4	SPI1	chr9:99994800-99995087	K562	blood:	n/a	n/a
5	FOXA2	chr9:99994374-99994975	A549	lung:	n/a	n/a
6	NR2F2	chr9:99994431-99995001	K562	blood:	n/a	n/a
7	MAX	chr9:99994417-99994954	K562	blood:	n/a	chr9:99994570-99994580
8	TRIM28	chr9:99994375-99995116	K562	blood:	n/a	n/a
9	CEBPD	chr9:99994407-99995152	K562	blood:	n/a	n/a
10	STAT5A	chr9:99994467-99995072	K562	blood:	n/a	n/a
11	POLR2A	chr9:99994614-99995021	K562	blood:	n/a	n/a
12	TEAD4	chr9:99994478-99995109	K562	blood:	n/a	n/a
13	TEAD4	chr9:99994485-99995111	K562	blood:	n/a	n/a
14	STAT5A	chr9:99994492-99995105	K562	blood:	n/a	n/a
15	CEBPB	chr9:99994400-99994971	K562	blood:	n/a	chr9:99994608-99994619
16	GABPA	chr9:99994680-99995050	K562	blood:	n/a	n/a
17	SPI1	chr9:99994777-99995032	K562	blood:	n/a	n/a
18	EP300	chr9:99994667-99994989	K562	blood:	n/a	n/a
19	NR3C1	chr9:99994390-99995153	A549	lung:	n/a	n/a
20	NR2F2	chr9:99994292-99995098	K562	blood:	n/a	n/a
21	POLR2A	chr9:99994634-99995182	H1-hESC	embryonic stem cell:	n/a	n/a
22	GATA2	chr9:99994419-99995175	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:99994043..99996478-chr9:99999503..100002032,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000235494	TF binding region
ENSG00000197816	Chromatin interaction
ENSG00000254876	Chromatin interaction
ENSG00000203279	Chromatin interaction
ENSG00000254483	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10115798	0.87[EUR][1000 genomes]
rs10116404	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10217229	0.82[EUR][1000 genomes]
rs10217329	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10733584	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10739337	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10739365	0.86[EUR][1000 genomes]
rs10759542	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10759547	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10759605	0.84[EUR][1000 genomes]
rs10759610	0.84[EUR][1000 genomes]
rs10817300	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10817306	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10817361	0.86[EUR][1000 genomes]
rs10981362	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10981528	0.84[EUR][1000 genomes]
rs10981537	0.84[EUR][1000 genomes]
rs10981625	0.80[EUR][1000 genomes]
rs12683119	0.84[EUR][1000 genomes]
rs1462092	0.84[EUR][1000 genomes]
rs1870859	0.80[EUR][1000 genomes]
rs1935372	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2255135	0.86[EUR][1000 genomes]
rs2255139	0.86[EUR][1000 genomes]
rs2255244	0.86[EUR][1000 genomes]
rs2401382	0.84[EUR][1000 genomes]
rs2447287	0.86[EUR][1000 genomes]
rs2447288	0.84[EUR][1000 genomes]
rs2447289	0.84[EUR][1000 genomes]
rs2447290	0.84[EUR][1000 genomes]
rs2487874	0.86[EUR][1000 genomes]
rs2487875	0.85[EUR][1000 genomes]
rs2502646	0.84[EUR][1000 genomes]
rs2615144	0.84[EUR][1000 genomes]
rs2795363	0.86[EUR][1000 genomes]
rs2795366	0.86[EUR][1000 genomes]
rs2795369	0.86[EUR][1000 genomes]
rs2795370	0.86[EUR][1000 genomes]
rs2818236	0.86[EUR][1000 genomes]
rs2818237	0.86[EUR][1000 genomes]
rs2818240	0.86[EUR][1000 genomes]
rs2818241	0.86[EUR][1000 genomes]
rs2818242	0.84[EUR][1000 genomes]
rs2818244	0.84[EUR][1000 genomes]
rs2859564	0.86[EUR][1000 genomes]
rs2888960	0.85[EUR][1000 genomes]
rs3953686	0.83[AFR][1000 genomes]
rs3953688	0.86[EUR][1000 genomes]
rs3994559	0.86[EUR][1000 genomes]
rs3994561	0.86[EUR][1000 genomes]
rs3994562	0.83[EUR][1000 genomes]
rs4345679	0.80[EUR][1000 genomes]
rs4433262	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4437755	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4524907	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4615708	0.86[EUR][1000 genomes]
rs4742683	0.83[EUR][1000 genomes]
rs4743067	0.86[EUR][1000 genomes]
rs4743074	0.80[EUR][1000 genomes]
rs6478008	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6478043	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6478044	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6478048	0.84[EUR][1000 genomes]
rs6478051	0.88[EUR][1000 genomes]
rs6478054	0.86[EUR][1000 genomes]
rs6478055	0.86[EUR][1000 genomes]
rs6478059	0.84[EUR][1000 genomes]
rs7020002	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7020144	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7021895	0.87[AMR][1000 genomes]
rs7023087	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7026287	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7033212	0.88[EUR][1000 genomes]
rs7033480	0.81[EUR][1000 genomes]
rs7033642	0.88[EUR][1000 genomes]
rs7038353	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7047367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71491754	0.81[EUR][1000 genomes]
rs725228	0.84[EUR][1000 genomes]
rs725229	0.84[EUR][1000 genomes]
rs7850473	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7855385	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7860264	0.88[EUR][1000 genomes]
rs7867330	0.86[EUR][1000 genomes]
rs7868052	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7868295	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7868312	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7875296	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9299202	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9408859	0.84[EUR][1000 genomes]
rs9409139	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931946	chr9:99895658-100005099	Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv893607	chr9:99906545-99996548	Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv893608	chr9:99906545-100005128	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7875158	CCDC180	cis	Artery Tibial	GTEx
rs7875158	RP11-520B13.4	cis	Esophagus Muscularis	GTEx
rs7875158	RP11-23J9.4	cis	Artery Tibial	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:99985200-99995000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:99992200-99999600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:99993400-99995400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:99994000-99995800	Enhancers	K562	blood
5	chr9:99994200-99995600	Enhancers	HepG2	liver
6	chr9:99994200-99995800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr9:99994400-99995000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:99994400-99995000	Weak transcription	A549	lung
9	chr9:99994400-99995400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr9:99994400-99995600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr9:99994600-99995000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:99994600-99998200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr9:99994600-99998400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr9:99994800-99995800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr9:99994800-99996000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr9:99994800-99999000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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