Variant report

Variant	rs7129220
Chromosome Location	chr11:10350538-10350539
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	GATA3	chr11:10350368-10350827	MCF-7	breast:	n/a	n/a
2	BRCA1	chr11:10350392-10350814	Hela-S3	cervix:	n/a	n/a
3	EP300	chr11:10350365-10350741	Hela-S3	cervix:	n/a	chr11:10350399-10350412
4	TCF7L2	chr11:10350394-10350767	Hela-S3	cervix:	n/a	n/a
5	EP300	chr11:10350348-10350730	SK-N-SH_RA	brain:	n/a	chr11:10350399-10350412
6	FOS	chr11:10350379-10350708	Hela-S3	cervix:	n/a	n/a
7	MAFK	chr11:10349915-10350771	Hela-S3	cervix:	n/a	chr11:10349961-10349975 chr11:10349965-10349981
8	USF2	chr11:10350354-10350554	Hela-S3	cervix:	n/a	n/a
9	FOSL2	chr11:10349847-10350677	SK-N-SH	brain:	n/a	n/a
10	KAP1	chr11:10349924-10350673	U2OS	brain:	n/a	n/a
11	POLR2A	chr11:10350294-10350741	HUVEC	blood vessel:	n/a	n/a
12	RCOR1	chr11:10350469-10350681	K562	blood:	n/a	n/a
13	POLR2A	chr11:10349819-10350832	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr11:10349822-10350789	HUVEC	blood vessel:	n/a	n/a
15	GATA3	chr11:10349867-10350932	SK-N-SH	brain:	n/a	n/a
16	GATA2	chr11:10349834-10350848	HUVEC	blood vessel:	n/a	chr11:10350579-10350593
17	MYC	chr11:10350369-10350774	Hela-S3	cervix:	n/a	n/a
18	JUN	chr11:10349966-10350700	HUVEC	blood vessel:	n/a	n/a
19	GATA3	chr11:10350286-10350828	MCF-7	breast:	n/a	n/a
20	EP300	chr11:10349820-10350891	SK-N-SH	brain:	n/a	chr11:10350399-10350412
21	TCF12	chr11:10349952-10350888	SK-N-SH	brain:	n/a	n/a
22	RCOR1	chr11:10350179-10350756	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr11:10350361-10350776	SK-N-SH	brain:	n/a	n/a
24	MAX	chr11:10350121-10350839	Hela-S3	cervix:	n/a	n/a
25	EP300	chr11:10350328-10350814	SK-N-SH_RA	brain:	n/a	chr11:10350399-10350412
26	GATA3	chr11:10349748-10350945	SK-N-SH	brain:	n/a	n/a
27	PBX3	chr11:10349876-10350870	SK-N-SH	brain:	n/a	n/a
28	CEBPB	chr11:10350228-10350761	Hela-S3	cervix:	n/a	n/a
29	PBX3	chr11:10350436-10350800	SK-N-SH	brain:	n/a	n/a
30	STAT3	chr11:10350333-10350787	Hela-S3	cervix:	n/a	n/a
31	TCF12	chr11:10349769-10351000	SK-N-SH	brain:	n/a	n/a
32	YY1	chr11:10350261-10350639	SK-N-SH_RA	brain:	n/a	n/a
33	RXRA	chr11:10349793-10350860	SK-N-SH	brain:	n/a	n/a
34	FOS	chr11:10349903-10350687	HUVEC	blood vessel:	n/a	n/a
35	PRDM1	chr11:10350429-10350767	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10328338..10330895-chr11:10349189..10351811,2	MCF-7	breast:

Variant related genes	Relation type
AMPD3	TF binding region
ENSG00000133805	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs12279871	0.90[CEU][hapmap]
rs1372810	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450265	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450266	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450268	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450275	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450276	1.00[ASW][hapmap];0.91[CEU][hapmap];0.87[GIH][hapmap];0.93[LWK][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470686	0.97[EUR][1000 genomes]
rs1597450	0.89[EUR][1000 genomes]
rs16907654	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17292774	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17294609	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17294693	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];0.82[MKK][hapmap];0.93[TSI][hapmap];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17295786	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17296211	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17296765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17358721	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17358882	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17359382	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17360118	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2044781	0.92[EUR][1000 genomes]
rs28733206	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2920149	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2957657	1.00[CEU][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2957686	0.97[EUR][1000 genomes]
rs4077089	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4403799	0.89[EUR][1000 genomes]
rs61877264	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61878652	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs61878654	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61878655	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61878657	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61878658	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61878659	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61880160	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61889783	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889785	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889795	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889796	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889802	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889815	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889816	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889817	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889836	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889840	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889842	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889843	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889845	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889846	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889847	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889956	0.91[AMR][1000 genomes]
rs61889957	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61891762	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891764	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891767	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891768	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61891773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891775	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61891776	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891793	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892569	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61892570	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61892572	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61892573	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61892575	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61892593	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892594	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892595	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892596	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892597	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6484142	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7103637	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104591	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7105355	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7107373	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7108385	1.00[CEU][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111544	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7111647	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7120043	1.00[ASN][1000 genomes]
rs7122370	1.00[ASN][1000 genomes]
rs7123467	0.82[AMR][1000 genomes]
rs7123541	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7125823	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850458	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851648	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851670	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851674	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72861738	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72861762	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72861767	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72861799	1.00[ASN][1000 genomes]
rs7929332	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[TSI][hapmap];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7930218	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7933724	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935257	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939531	1.00[ASN][1000 genomes]
rs7941320	0.92[EUR][1000 genomes]
rs7941557	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7945990	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947210	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949974	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs896043	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9705133	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

Variant related diseases (count:3)

Disease	PMID	Source
Systolic blood pressure	21909115	GWAS catalog
Blood pressure	21909110	GWAS catalog
Diastolic blood pressure	21909115	GWAS catalog

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10342800-10351600	Enhancers	Adipose Nuclei	Adipose
2	chr11:10343200-10351000	Enhancers	Stomach Mucosa	stomach
3	chr11:10343400-10353400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:10344000-10351600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr11:10344000-10353200	Enhancers	NH-A	brain
6	chr11:10344000-10353400	Enhancers	Osteobl	bone
7	chr11:10344400-10351600	Enhancers	Ovary	ovary
8	chr11:10344600-10351000	Enhancers	Colon Smooth Muscle	Colon
9	chr11:10344600-10353200	Enhancers	Hela-S3	cervix
10	chr11:10344600-10353800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:10345600-10354000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:10346200-10350600	Enhancers	Small Intestine	intestine
13	chr11:10347200-10351600	Enhancers	Fetal Intestine Large	intestine
14	chr11:10347200-10353600	Enhancers	NHDF-Ad	bronchial
15	chr11:10347600-10350600	Enhancers	Duodenum Mucosa	Duodenum
16	chr11:10347600-10351600	Enhancers	Fetal Intestine Small	intestine
17	chr11:10347800-10351000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr11:10347800-10351000	Enhancers	Placenta	Placenta
19	chr11:10348000-10350600	Enhancers	Liver	Liver
20	chr11:10348000-10350800	Enhancers	HepG2	liver
21	chr11:10348000-10351000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:10348200-10353200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:10348200-10353400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:10348200-10370200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:10348400-10351000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:10348400-10353200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr11:10348600-10351000	Weak transcription	Lung	lung
28	chr11:10348600-10351000	Enhancers	A549	lung
29	chr11:10348800-10350800	Enhancers	Brain Hippocampus Middle	brain
30	chr11:10349000-10351000	Weak transcription	Fetal Muscle Leg	muscle
31	chr11:10349000-10351600	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr11:10349400-10350800	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr11:10349400-10351000	Enhancers	Right Atrium	heart
34	chr11:10349400-10352000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:10349600-10350600	Enhancers	Psoas Muscle	Psoas
36	chr11:10349600-10350600	Flanking Active TSS	HUVEC	blood vessel
37	chr11:10349600-10350800	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr11:10349800-10350600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:10349800-10350600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:10349800-10350800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:10349800-10350800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:10349800-10350800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr11:10349800-10351000	Enhancers	HSMMtube	muscle
44	chr11:10349800-10351200	Enhancers	HSMM	muscle
45	chr11:10349800-10352200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:10349800-10352400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:10350000-10350600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr11:10350000-10350600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:10350000-10350600	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr11:10350000-10350600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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