Variant report

Variant	rs7109096
Chromosome Location	chr11:10347846-10347847
allele	G/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	RCOR1	chr11:10347665-10348479	HepG2	liver:	n/a	n/a
2	HNF4G	chr11:10347799-10348497	HepG2	liver:	n/a	chr11:10348155-10348163 chr11:10348153-10348161 chr11:10348147-10348162 chr11:10348147-10348162 chr11:10348147-10348162 chr11:10348154-10348162 chr11:10348145-10348160
3	ARID3A	chr11:10347651-10348468	HepG2	liver:	n/a	n/a
4	SP1	chr11:10347724-10348568	A549	lung:	n/a	chr11:10348029-10348043
5	FOXA2	chr11:10347825-10348547	A549	lung:	n/a	n/a
6	POLR2A	chr11:10347842-10348114	HepG2	liver:	n/a	n/a
7	NFIC	chr11:10347800-10348630	ECC-1	luminal epithelium:	n/a	n/a
8	FOXA2	chr11:10347689-10348810	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:10347828-10348218	HepG2	liver:	n/a	n/a
10	HEY1	chr11:10347482-10348391	HepG2	liver:	n/a	n/a
11	MYBL2	chr11:10347654-10348612	HepG2	liver:	n/a	n/a
12	FOXA1	chr11:10347801-10348476	HepG2	liver:	n/a	chr11:10348171-10348186
13	MBD4	chr11:10347827-10348527	HepG2	liver:	n/a	n/a
14	TCF7L2	chr11:10347300-10348283	Hela-S3	cervix:	n/a	chr11:10348015-10348022
15	TBP	chr11:10347819-10348419	HepG2	liver:	n/a	n/a
16	SMC3	chr11:10347022-10348181	Hela-S3	cervix:	n/a	n/a
17	NFIC	chr11:10347714-10348584	HepG2	liver:	n/a	n/a
18	TCF12	chr11:10347316-10349347	A549	lung:	n/a	chr11:10348090-10348100
19	HEY1	chr11:10347763-10348272	HepG2	liver:	n/a	n/a
20	MAFK	chr11:10347774-10348609	HepG2	liver:	n/a	chr11:10348461-10348477 chr11:10348418-10348433
21	MYBL2	chr11:10347692-10348605	HepG2	liver:	n/a	n/a
22	HDAC2	chr11:10347834-10348543	HepG2	liver:	n/a	chr11:10348153-10348161
23	FOXA1	chr11:10347829-10348491	HepG2	liver:	n/a	chr11:10348171-10348186
24	EP300	chr11:10347816-10348590	HepG2	liver:	n/a	chr11:10347891-10347905
25	SMC3	chr11:10347785-10348502	HepG2	liver:	n/a	n/a
26	TCF12	chr11:10347838-10348379	ECC-1	luminal epithelium:	n/a	chr11:10348090-10348100
27	CEBPB	chr11:10346949-10348247	Hela-S3	cervix:	n/a	chr11:10347739-10347752
28	CHD2	chr11:10347846-10348295	HepG2	liver:	n/a	n/a
29	MAZ	chr11:10347654-10348567	HepG2	liver:	n/a	n/a
30	RFX5	chr11:10347821-10348609	HepG2	liver:	n/a	n/a
31	MBD4	chr11:10347780-10348471	HepG2	liver:	n/a	n/a
32	EP300	chr11:10347846-10348518	A549	lung:	n/a	chr11:10347891-10347905
33	SP1	chr11:10347479-10348554	HepG2	liver:	n/a	chr11:10348029-10348043
34	HNF4A	chr11:10347660-10348489	HepG2	liver:	n/a	chr11:10348155-10348163 chr11:10348153-10348161 chr11:10348147-10348162 chr11:10348147-10348162 chr11:10348147-10348162 chr11:10348154-10348162
35	EP300	chr11:10347748-10348548	HepG2	liver:	n/a	chr11:10347891-10347905
36	SP1	chr11:10347754-10348595	A549	lung:	n/a	chr11:10348029-10348043
37	EP300	chr11:10347749-10348591	A549	lung:	n/a	chr11:10347891-10347905
38	FOXA2	chr11:10347803-10348580	A549	lung:	n/a	n/a
39	CEBPB	chr11:10347640-10348451	HepG2	liver:	n/a	chr11:10347739-10347752
40	TEAD4	chr11:10347675-10348568	HepG2	liver:	n/a	n/a
41	EP300	chr11:10347759-10348557	ECC-1	luminal epithelium:	n/a	chr11:10347891-10347905
42	EP300	chr11:10347488-10348496	HepG2	liver:	n/a	chr11:10347891-10347905
43	POLR2A	chr11:10347695-10348425	HepG2	liver:	n/a	n/a
44	HNF4G	chr11:10347827-10348441	HepG2	liver:	n/a	chr11:10348155-10348163 chr11:10348153-10348161 chr11:10348147-10348162 chr11:10348147-10348162 chr11:10348147-10348162 chr11:10348154-10348162 chr11:10348145-10348160
45	NFIC	chr11:10347806-10348527	HepG2	liver:	n/a	n/a
46	POLR2A	chr11:10347845-10348180	HepG2	liver:	n/a	n/a
47	HDAC2	chr11:10347764-10348496	HepG2	liver:	n/a	chr11:10348153-10348161
48	REST	chr11:10347682-10348436	A549	lung:	n/a	chr11:10347720-10347734 chr11:10347720-10347740 chr11:10347721-10347739

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10324085..10326015-chr11:10346392..10348165,2	MCF-7	breast:

Variant related genes	Relation type
AMPD3	TF binding region
ENSG00000254554	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs1372810	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450265	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450275	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450276	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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17292774	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17294609	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17294693	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17295786	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17296211	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	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17358882	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17359382	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17360118	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	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2957686	0.97[EUR][1000 genomes]
rs4077089	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	0.80[AMR][1000 genomes];0.96[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[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]
rs7129220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7930218	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[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

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10339600-10348800	Weak transcription	Brain Hippocampus Middle	brain
2	chr11:10340400-10350000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr11:10340800-10348400	Enhancers	Fetal Stomach	stomach
4	chr11:10341200-10348600	Enhancers	Rectal Smooth Muscle	rectum
5	chr11:10342800-10351600	Enhancers	Adipose Nuclei	Adipose
6	chr11:10343200-10351000	Enhancers	Stomach Mucosa	stomach
7	chr11:10343400-10353400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:10343800-10350200	Enhancers	NHLF	lung
9	chr11:10344000-10349600	Enhancers	HUVEC	blood vessel
10	chr11:10344000-10351600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr11:10344000-10353200	Enhancers	NH-A	brain
12	chr11:10344000-10353400	Enhancers	Osteobl	bone
13	chr11:10344400-10348400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:10344400-10349000	Enhancers	Aorta	Aorta
15	chr11:10344400-10351600	Enhancers	Ovary	ovary
16	chr11:10344600-10348000	Weak transcription	Psoas Muscle	Psoas
17	chr11:10344600-10349800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:10344600-10350000	Weak transcription	HMEC	breast
19	chr11:10344600-10350200	Weak transcription	Brain Substantia Nigra	brain
20	chr11:10344600-10351000	Enhancers	Colon Smooth Muscle	Colon
21	chr11:10344600-10353200	Enhancers	Hela-S3	cervix
22	chr11:10344600-10353800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:10344800-10348000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:10344800-10348000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr11:10344800-10349800	Weak transcription	Fetal Heart	heart
26	chr11:10344800-10350000	Weak transcription	NHEK	skin
27	chr11:10345000-10348000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr11:10345000-10348400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr11:10345200-10348000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr11:10345200-10350000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:10345600-10349600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr11:10345600-10354000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:10345800-10349800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:10346000-10348000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr11:10346000-10349000	Enhancers	Stomach Smooth Muscle	stomach
36	chr11:10346000-10349800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr11:10346000-10350000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:10346000-10350200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr11:10346200-10348200	Enhancers	HSMM	muscle
40	chr11:10346200-10349000	Enhancers	Fetal Muscle Leg	muscle
41	chr11:10346200-10350600	Enhancers	Small Intestine	intestine
42	chr11:10346800-10348000	Weak transcription	Lung	lung
43	chr11:10346800-10348000	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr11:10346800-10348000	Enhancers	HSMMtube	muscle
45	chr11:10346800-10348400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:10347000-10349000	Enhancers	Right Atrium	heart
47	chr11:10347200-10348000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:10347200-10351600	Enhancers	Fetal Intestine Large	intestine
49	chr11:10347200-10353600	Enhancers	NHDF-Ad	bronchial
50	chr11:10347400-10348000	Flanking Active TSS	HepG2	liver

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