Variant report

Variant	rs72761982
Chromosome Location	chr9:116275520-116275521
allele	C/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	chr9:116275454-116275781	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr9:116275491-116275600	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:116274772..116276369-chr9:116340475..116342047,2	MCF-7	breast:
2	chr9:116275302..116278302-chr9:116284369..116288066,3	K562	blood:
3	chr9:116268020..116270746-chr9:116274035..116276805,2	MCF-7	breast:

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

Extended variants
information (count: 173 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:168)

rs_ID	r²[population]
rs10116799	0.89[EUR][1000 genomes]
rs10125960	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10217341	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10481676	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10481677	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10981789	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10981803	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10981807	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10981808	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10981814	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10981816	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10981817	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10981819	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10981820	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10981821	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10981825	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10981826	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10981827	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10981828	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10981829	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10981831	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10981832	0.90[EUR][1000 genomes]
rs12335716	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12336719	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12337340	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12338588	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12338697	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12338701	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12339493	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12339501	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12339617	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12340996	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12341332	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12341490	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12342508	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12342699	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12343129	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12343141	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12343940	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12344334	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12344578	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12345524	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12345968	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12346076	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12346087	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12346939	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12347895	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12348214	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12348239	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12349661	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12353541	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1890992	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2050865	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2050866	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28594159	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28694002	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28714985	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35270441	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35358414	0.81[EUR][1000 genomes]
rs35533905	0.81[EUR][1000 genomes]
rs3983381	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs41301525	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41305473	0.89[EUR][1000 genomes]
rs41313331	0.89[EUR][1000 genomes]
rs4596719	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55676913	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55696921	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55777057	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55805468	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55931715	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55977108	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56155263	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56276438	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56390346	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61749208	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6478011	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6478016	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6478022	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6478023	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7018783	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7020623	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7021688	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7023661	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7024445	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7024612	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7024996	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7025170	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7025745	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7026568	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7026656	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7027024	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7027340	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7028327	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7029685	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7032311	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7037441	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7040031	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7041833	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7042290	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7042695	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7043140	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7043571	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7045347	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7046202	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7046427	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7047062	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7048208	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7048305	0.89[EUR][1000 genomes]
rs72760092	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72760093	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72760097	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72761903	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72761904	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72761966	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72761968	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72761972	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72761985	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72761987	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72761988	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72761992	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72761994	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72761997	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72762002	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72763803	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72763804	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72763806	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72763816	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72763826	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72763827	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72763828	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72763831	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72763832	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72763842	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72763843	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72763846	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72763848	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72763849	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72763851	0.81[EUR][1000 genomes]
rs7848203	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7849841	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7851718	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7853373	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7853792	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7854197	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7855325	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7856515	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7857943	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7859047	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7860673	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7861248	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7863159	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7864645	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7865364	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7867353	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7870227	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7870451	0.87[EUR][1000 genomes]
rs7871186	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7872084	0.87[EUR][1000 genomes]
rs7872192	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7872283	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs867375	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs884899	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9299215	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs944345	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs944346	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9657641	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9657658	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9657659	0.80[AMR][1000 genomes];0.93[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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116251600-116283800	Weak transcription	Hela-S3	cervix
2	chr9:116255600-116275800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr9:116264000-116291200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:116264800-116298400	Weak transcription	Brain Germinal Matrix	brain
5	chr9:116266800-116281600	Strong transcription	Fetal Stomach	stomach
6	chr9:116268400-116277200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr9:116268600-116278600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr9:116269000-116288600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:116269400-116288200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr9:116269400-116303000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr9:116269600-116276600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:116269600-116298400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr9:116269800-116276400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr9:116270400-116289200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:116270400-116290600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr9:116270600-116283800	Weak transcription	Colon Smooth Muscle	Colon
17	chr9:116270600-116283800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr9:116270800-116276000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:116270800-116276000	Weak transcription	Fetal Brain Female	brain
20	chr9:116270800-116285200	Weak transcription	Brain Substantia Nigra	brain
21	chr9:116270800-116285800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr9:116271000-116285200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr9:116271000-116285600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr9:116271200-116278200	Weak transcription	Adipose Nuclei	Adipose
25	chr9:116271400-116276000	Weak transcription	Gastric	stomach
26	chr9:116271400-116281200	Weak transcription	Fetal Kidney	kidney
27	chr9:116272000-116276400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr9:116272000-116278200	Weak transcription	Fetal Lung	lung
29	chr9:116273200-116276600	Enhancers	Fetal Thymus	thymus
30	chr9:116273200-116279400	Genic enhancers	Fetal Intestine Small	intestine
31	chr9:116273200-116279600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr9:116273400-116279400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr9:116273600-116275600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr9:116273600-116276000	Weak transcription	Aorta	Aorta
35	chr9:116273600-116280400	Strong transcription	Stomach Smooth Muscle	stomach
36	chr9:116273600-116280600	Weak transcription	Brain Hippocampus Middle	brain
37	chr9:116273600-116281400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr9:116273600-116281400	Weak transcription	Right Atrium	heart
39	chr9:116273600-116285400	Weak transcription	Brain Anterior Caudate	brain
40	chr9:116273600-116287000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr9:116273800-116275800	Weak transcription	A549	lung
42	chr9:116273800-116276800	Weak transcription	Fetal Muscle Leg	muscle
43	chr9:116273800-116280400	Strong transcription	HepG2	liver
44	chr9:116274000-116279200	Strong transcription	Left Ventricle	heart
45	chr9:116274000-116281400	Weak transcription	Esophagus	oesophagus
46	chr9:116274200-116275800	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr9:116274200-116277800	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr9:116274400-116275800	Weak transcription	Lung	lung
49	chr9:116274400-116276600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr9:116274400-116276800	Enhancers	Thymus	Thymus

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