Variant report

Variant	rs7857217
Chromosome Location	chr9:116265360-116265361
allele	A/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	POLR2A	chr9:116263262-116267925	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr9:116263135-116267750	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr9:116264711-116266689	HUVEC	blood vessel:	n/a	n/a
4	SPI1	chr9:116264946-116265447	GM12878	blood:	n/a	n/a
5	POLR2A	chr9:116263232-116266725	HUVEC	blood vessel:	n/a	n/a
6	SPI1	chr9:116264945-116265479	GM12891	blood:	n/a	n/a
7	POLR2A	chr9:116265325-116266485	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:116264785..116266447-chr9:116267104..116270067,2	MCF-7	breast:

Variant related genes	Relation type
RGS3	TF binding region
ENSG00000138835	Chromatin interaction

Extended variants
information (count: 189 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:184)

rs_ID	r²[population]
rs10125960	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs10217237	0.93[AFR][1000 genomes]
rs10217750	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs10217756	0.93[AFR][1000 genomes]
rs10481640	0.93[AFR][1000 genomes]
rs10481676	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs10481677	0.84[AFR][1000 genomes]
rs10981793	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10981794	0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs10981803	0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs10981807	0.86[AFR][1000 genomes]
rs10981808	0.95[YRI][hapmap];0.86[AFR][1000 genomes]
rs10981814	0.90[YRI][hapmap];0.86[AFR][1000 genomes]
rs10981815	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10981816	0.90[YRI][hapmap];0.86[AFR][1000 genomes]
rs10981817	0.90[YRI][hapmap];0.86[AFR][1000 genomes]
rs10981819	0.89[YRI][hapmap];0.88[AFR][1000 genomes]
rs10981820	0.86[AFR][1000 genomes]
rs10981821	0.86[AFR][1000 genomes]
rs10981825	0.85[AFR][1000 genomes]
rs10981826	0.85[AFR][1000 genomes]
rs10981827	0.85[AFR][1000 genomes]
rs10981830	1.00[CEU][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12335991	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs12336719	0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs12337340	0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs12338221	0.92[AFR][1000 genomes]
rs12338588	0.86[AFR][1000 genomes]
rs12338697	0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs12338701	0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs12338788	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12339493	0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs12339617	0.95[YRI][hapmap];0.88[AFR][1000 genomes]
rs12339851	0.94[YRI][hapmap];0.93[AFR][1000 genomes]
rs12340996	0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs12341332	0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs12342508	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs12342699	0.86[AFR][1000 genomes]
rs12343129	0.89[YRI][hapmap];0.81[AFR][1000 genomes]
rs12343141	0.95[YRI][hapmap];0.86[AFR][1000 genomes]
rs12344334	0.85[AFR][1000 genomes]
rs12344578	0.95[YRI][hapmap];0.86[AFR][1000 genomes]
rs12344964	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs12345524	0.95[YRI][hapmap];0.86[AFR][1000 genomes]
rs12346076	0.95[YRI][hapmap];0.86[AFR][1000 genomes]
rs12346087	0.90[YRI][hapmap];0.84[AFR][1000 genomes]
rs12346939	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs12347382	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12347895	0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs12351728	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17187621	0.83[EUR][1000 genomes]
rs17525042	0.86[ASN][1000 genomes]
rs17553698	0.86[ASN][1000 genomes]
rs1890992	0.89[YRI][hapmap];0.85[AFR][1000 genomes]
rs2050865	0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs2050866	0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs28694002	0.86[AFR][1000 genomes]
rs28709996	0.93[AFR][1000 genomes]
rs28714985	0.86[AFR][1000 genomes]
rs34106027	0.86[ASN][1000 genomes]
rs34142167	0.86[ASN][1000 genomes]
rs35120599	0.86[ASN][1000 genomes]
rs35270441	0.90[AFR][1000 genomes]
rs35329679	0.86[ASN][1000 genomes]
rs3747813	1.00[CHB][hapmap]
rs3761819	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs3810925	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs3810926	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs3827674	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs3983381	0.90[YRI][hapmap];0.85[AFR][1000 genomes]
rs41276809	0.86[ASN][1000 genomes]
rs41301525	0.84[AFR][1000 genomes]
rs41305473	0.84[AFR][1000 genomes]
rs41312200	0.86[ASN][1000 genomes]
rs41316948	0.86[ASN][1000 genomes]
rs4596719	0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs4979257	0.89[YRI][hapmap]
rs55676913	0.93[AFR][1000 genomes]
rs55714377	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55777057	0.85[AFR][1000 genomes]
rs55931715	0.85[AFR][1000 genomes]
rs55977108	0.86[AFR][1000 genomes]
rs56155263	0.84[AFR][1000 genomes]
rs56276438	0.85[AFR][1000 genomes]
rs56390346	0.85[AFR][1000 genomes]
rs6478011	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs6478016	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs6478017	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs6478022	0.90[YRI][hapmap];0.85[AFR][1000 genomes]
rs6478023	0.90[YRI][hapmap];0.85[AFR][1000 genomes]
rs7018783	0.90[YRI][hapmap];0.86[AFR][1000 genomes]
rs7020623	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs7021491	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs7023661	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs7024445	0.90[YRI][hapmap];0.85[AFR][1000 genomes]
rs7024612	0.89[YRI][hapmap];0.85[AFR][1000 genomes]
rs7024996	0.90[YRI][hapmap];0.84[AFR][1000 genomes]
rs7025170	0.85[AFR][1000 genomes]
rs7025745	0.86[AFR][1000 genomes]
rs7026568	0.90[AFR][1000 genomes]
rs7026656	0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs7027024	0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs7027340	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs7028327	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs7029685	0.86[AFR][1000 genomes]
rs7033679	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs7037441	0.95[YRI][hapmap];0.86[AFR][1000 genomes]
rs7037761	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs7040031	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs7040635	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7041833	0.81[YRI][hapmap]
rs7042290	0.93[AFR][1000 genomes]
rs7042695	0.95[YRI][hapmap];0.86[AFR][1000 genomes]
rs7042968	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7043140	0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs7045347	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs7046202	0.93[AFR][1000 genomes]
rs7046427	0.95[YRI][hapmap];0.86[AFR][1000 genomes]
rs7047062	0.90[YRI][hapmap];0.84[AFR][1000 genomes]
rs7049221	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs72760096	0.94[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72761903	0.89[AFR][1000 genomes]
rs72761905	0.93[AFR][1000 genomes]
rs72761906	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72761963	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72761964	0.93[AFR][1000 genomes]
rs72761965	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72761966	0.90[AFR][1000 genomes]
rs72761969	0.93[AFR][1000 genomes]
rs72761971	0.93[AFR][1000 genomes]
rs72761973	0.93[AFR][1000 genomes]
rs72761978	0.93[AFR][1000 genomes]
rs72761987	0.90[AFR][1000 genomes]
rs72761992	0.86[AFR][1000 genomes]
rs72761994	0.86[AFR][1000 genomes]
rs72761999	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs72762002	0.86[AFR][1000 genomes]
rs72763803	0.85[AFR][1000 genomes]
rs72763804	0.86[AFR][1000 genomes]
rs72763826	0.84[AFR][1000 genomes]
rs72763828	0.82[AFR][1000 genomes]
rs72763831	0.84[AFR][1000 genomes]
rs72763841	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72763842	0.84[AFR][1000 genomes]
rs72763846	0.82[AFR][1000 genomes]
rs7848203	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs7849841	0.93[AFR][1000 genomes]
rs7851718	0.89[YRI][hapmap];0.86[AFR][1000 genomes]
rs7851937	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7852118	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7853373	0.86[AFR][1000 genomes]
rs7853792	0.85[YRI][hapmap];0.88[AFR][1000 genomes]
rs7854197	0.90[YRI][hapmap];0.86[AFR][1000 genomes]
rs7854524	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7855325	0.93[YRI][hapmap];0.86[AFR][1000 genomes]
rs7855434	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7856689	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7857943	0.90[YRI][hapmap];0.84[AFR][1000 genomes]
rs7860673	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs7861248	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs7863159	0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs7864467	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7864645	0.93[AFR][1000 genomes]
rs7864816	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7867203	0.82[AFR][1000 genomes]
rs7867353	0.95[YRI][hapmap];0.88[AFR][1000 genomes]
rs7867430	0.85[EUR][1000 genomes]
rs7870142	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7870227	0.89[YRI][hapmap];0.86[AFR][1000 genomes]
rs7870265	0.95[YRI][hapmap];0.92[AFR][1000 genomes]
rs7870451	0.90[YRI][hapmap]
rs7870912	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7871186	0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs7872283	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs883025	0.84[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs884898	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs884899	0.82[AFR][1000 genomes]
rs9299215	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs944345	0.90[YRI][hapmap];0.85[AFR][1000 genomes]
rs944346	0.90[YRI][hapmap];0.85[AFR][1000 genomes]
rs9657641	0.90[YRI][hapmap];0.84[AFR][1000 genomes]
rs9657658	0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs9657659	0.90[YRI][hapmap];0.84[AFR][1000 genomes]
rs9785299	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv893747	chr9:116214058-116386438	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription 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	13 gene(s)	inside rSNPs	diseases
3	nsv466508	chr9:116244982-116362738	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv615215	chr9:116244982-116362738	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv526579	chr9:116244982-116391162	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116242000-116266200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr9:116251600-116283800	Weak transcription	Hela-S3	cervix
3	chr9:116252400-116273200	Weak transcription	Pancreas	Pancrea
4	chr9:116255600-116265400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr9:116255600-116266600	Weak transcription	Stomach Mucosa	stomach
6	chr9:116255600-116269400	Weak transcription	Colon Smooth Muscle	Colon
7	chr9:116255600-116275800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr9:116257400-116270800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr9:116259200-116274000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr9:116259200-116274200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr9:116260200-116265400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr9:116262800-116266400	Weak transcription	A549	lung
13	chr9:116262800-116267400	Weak transcription	Aorta	Aorta
14	chr9:116262800-116274200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr9:116263200-116265400	Active TSS	Left Ventricle	heart
16	chr9:116263200-116265400	Active TSS	Right Atrium	heart
17	chr9:116263200-116265400	Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr9:116263200-116266000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr9:116263200-116266200	Active TSS	Adipose Nuclei	Adipose
20	chr9:116263200-116267000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr9:116263400-116265400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr9:116263400-116265400	Active TSS	Right Ventricle	heart
23	chr9:116263400-116265600	Active TSS	Fetal Brain Female	brain
24	chr9:116263400-116266200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
25	chr9:116263400-116266400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr9:116263400-116266400	Active TSS	Brain Anterior Caudate	brain
27	chr9:116263600-116265400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr9:116263600-116266000	Active TSS	Brain Hippocampus Middle	brain
29	chr9:116263600-116266000	Active TSS	Psoas Muscle	Psoas
30	chr9:116263600-116266200	Active TSS	HUVEC	blood vessel
31	chr9:116263600-116266400	Active TSS	Fetal Muscle Leg	muscle
32	chr9:116263800-116265400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr9:116263800-116265400	Active TSS	Fetal Muscle Trunk	muscle
34	chr9:116263800-116265600	Active TSS	Lung	lung
35	chr9:116263800-116265600	Active TSS	Ovary	ovary
36	chr9:116263800-116265800	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr9:116263800-116265800	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr9:116263800-116266000	Active TSS	Esophagus	oesophagus
39	chr9:116263800-116266000	Flanking Active TSS	Placenta	Placenta
40	chr9:116263800-116266600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr9:116263800-116266800	Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr9:116264000-116265400	Active TSS	Fetal Stomach	stomach
43	chr9:116264000-116265600	Active TSS	Rectal Smooth Muscle	rectum
44	chr9:116264000-116267400	Enhancers	HepG2	liver
45	chr9:116264000-116291200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr9:116264200-116265600	Active TSS	Fetal Kidney	kidney
47	chr9:116264200-116266400	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr9:116264200-116267400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr9:116264400-116266200	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr9:116264400-116266600	Weak transcription	Colonic Mucosa	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links