Variant report

Variant	rs7043571
Chromosome Location	chr9:116277032-116277033
allele	C/T
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	chr9:116276822-116277149	K562	blood:	n/a	n/a
2	POLR2A	chr9:116276284-116277404	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:116275302..116278302-chr9:116284369..116288066,3	K562	blood:

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	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10217341	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10481676	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10481677	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10981789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10981803	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10981807	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10981808	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10981814	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10981816	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10981817	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10981819	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10981820	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10981821	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10981825	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10981826	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10981827	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10981828	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10981829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10981831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10981832	0.90[EUR][1000 genomes]
rs12335716	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12336719	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12337340	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12338588	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12338697	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12338701	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12339493	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12339501	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12339617	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12340996	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12341332	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12341490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12342508	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12342699	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12343129	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12343141	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12343940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12344334	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12344578	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12345524	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12345968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12346076	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12346087	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12346939	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12347895	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12348214	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12348239	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12349661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12353541	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1890992	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2050865	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2050866	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28594159	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28694002	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28714985	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35270441	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35358414	0.81[EUR][1000 genomes]
rs35533905	0.81[EUR][1000 genomes]
rs3983381	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs41301525	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41305473	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41313331	0.89[EUR][1000 genomes]
rs4596719	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55676913	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55696921	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55777057	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55805468	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55931715	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55977108	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56155263	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56276438	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56390346	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61749208	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6478011	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6478016	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6478022	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6478023	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7018783	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7020623	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7021688	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7023661	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7024445	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7024612	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7024996	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7025170	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7025745	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7026568	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7026656	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7027024	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7027340	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7028327	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7029685	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7032311	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7037441	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7040031	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7041833	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7042290	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7042695	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7043140	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7045347	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7046202	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7046427	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7047062	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7048208	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7048305	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72760092	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72760093	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72760097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72761903	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72761904	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72761966	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72761968	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72761972	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72761982	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72761985	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72761987	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72761988	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72761992	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72761994	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72761997	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72762002	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72763803	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72763804	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72763806	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72763816	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72763826	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72763827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72763828	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72763831	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72763832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72763842	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72763843	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72763846	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72763848	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72763849	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72763851	0.81[EUR][1000 genomes]
rs7848203	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7849841	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7851718	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7853373	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7853792	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7854197	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7855325	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7856515	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7857943	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7859047	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7860673	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7861248	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7863159	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7864645	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7865364	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7867353	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7870227	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7870451	0.87[EUR][1000 genomes]
rs7871186	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7872084	0.87[EUR][1000 genomes]
rs7872192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7872283	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs867375	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs884899	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9299215	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs944345	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs944346	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9657641	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9657658	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9657659	0.84[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:104 , 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	chr9:116264000-116291200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr9:116264800-116298400	Weak transcription	Brain Germinal Matrix	brain
4	chr9:116266800-116281600	Strong transcription	Fetal Stomach	stomach
5	chr9:116268400-116277200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr9:116268600-116278600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr9:116269000-116288600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr9:116269400-116288200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr9:116269400-116303000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr9:116269600-116298400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr9:116270400-116289200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:116270400-116290600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr9:116270600-116283800	Weak transcription	Colon Smooth Muscle	Colon
14	chr9:116270600-116283800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr9:116270800-116285200	Weak transcription	Brain Substantia Nigra	brain
16	chr9:116270800-116285800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr9:116271000-116285200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr9:116271000-116285600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr9:116271200-116278200	Weak transcription	Adipose Nuclei	Adipose
20	chr9:116271400-116281200	Weak transcription	Fetal Kidney	kidney
21	chr9:116272000-116278200	Weak transcription	Fetal Lung	lung
22	chr9:116273200-116279400	Genic enhancers	Fetal Intestine Small	intestine
23	chr9:116273200-116279600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr9:116273400-116279400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr9:116273600-116280400	Strong transcription	Stomach Smooth Muscle	stomach
26	chr9:116273600-116280600	Weak transcription	Brain Hippocampus Middle	brain
27	chr9:116273600-116281400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr9:116273600-116281400	Weak transcription	Right Atrium	heart
29	chr9:116273600-116285400	Weak transcription	Brain Anterior Caudate	brain
30	chr9:116273600-116287000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr9:116273800-116280400	Strong transcription	HepG2	liver
32	chr9:116274000-116279200	Strong transcription	Left Ventricle	heart
33	chr9:116274000-116281400	Weak transcription	Esophagus	oesophagus
34	chr9:116274200-116277800	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr9:116274400-116279200	Strong transcription	Right Ventricle	heart
36	chr9:116274400-116282400	Weak transcription	Psoas Muscle	Psoas
37	chr9:116274600-116277200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr9:116274600-116279200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr9:116274600-116282200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr9:116274800-116278000	Weak transcription	NHLF	lung
41	chr9:116274800-116278400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr9:116274800-116279000	Weak transcription	Primary B cells from cord blood	blood
43	chr9:116274800-116279000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr9:116274800-116279600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr9:116274800-116280600	Weak transcription	Fetal Heart	heart
46	chr9:116275000-116277200	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr9:116275000-116277600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr9:116275000-116278200	Weak transcription	Osteobl	bone
49	chr9:116275000-116279000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr9:116275000-116279000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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