Variant report

Variant	rs3794088
Chromosome Location	chr11:35325956-35325957
allele	A/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	CEBPB	chr11:35325445-35326243	HepG2	liver:	n/a	chr11:35326024-35326035 chr11:35326024-35326035 chr11:35325630-35325641
2	REST	chr11:35325537-35326345	PFSK-1	brain:	n/a	n/a
3	EP300	chr11:35325310-35326303	HepG2	liver:	n/a	chr11:35325452-35325462
4	POLR2A	chr11:35325634-35326325	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:35325489-35327231	PFSK-1	brain:	n/a	n/a
6	MYC	chr11:35325311-35326973	MCF10A-Er-Src	breast:	n/a	n/a
7	FOXA1	chr11:35325927-35326278	T-47D	breast:	n/a	chr11:35326101-35326113
8	STAT3	chr11:35325313-35326397	MCF10A-Er-Src	breast:	n/a	chr11:35325761-35325772 chr11:35325760-35325774 chr11:35325763-35325771 chr11:35325757-35325777
9	TCF12	chr11:35325286-35326393	A549	lung:	n/a	chr11:35325623-35325632
10	CEBPB	chr11:35325415-35326375	IMR90	lung:	n/a	chr11:35326024-35326035 chr11:35326024-35326035 chr11:35325630-35325641
11	EP300	chr11:35325350-35325996	A549	lung:	n/a	chr11:35325452-35325462
12	FOXA2	chr11:35325384-35326217	A549	lung:	n/a	chr11:35326101-35326113 chr11:35325457-35325469
13	TAF1	chr11:35325793-35326344	PFSK-1	brain:	n/a	n/a
14	STAT3	chr11:35325209-35326315	MCF10A-Er-Src	breast:	n/a	chr11:35325761-35325772 chr11:35325760-35325774 chr11:35325300-35325312 chr11:35325763-35325771 chr11:35325757-35325777
15	E2F4	chr11:35325419-35326609	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr11:35325288-35326299	MCF10A-Er-Src	breast:	n/a	chr11:35325761-35325772 chr11:35325760-35325774 chr11:35325300-35325312 chr11:35325763-35325771 chr11:35325757-35325777
17	RCOR1	chr11:35325581-35326262	HepG2	liver:	n/a	n/a
18	SMC3	chr11:35325542-35326075	HepG2	liver:	n/a	n/a
19	SMARCC1	chr11:35325341-35326415	Hela-S3	cervix:	n/a	n/a
20	RAD21	chr11:35325704-35326322	IMR90	lung:	n/a	n/a
21	SP1	chr11:35325304-35326121	A549	lung:	n/a	n/a
22	CEBPB	chr11:35325238-35326004	A549	lung:	n/a	chr11:35325630-35325641
23	FOS	chr11:35325311-35326310	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr11:35325353-35326386	U87	brain:	n/a	n/a
25	JUND	chr11:35325497-35326236	HepG2	liver:	n/a	n/a
26	FOSL2	chr11:35325350-35326063	A549	lung:	n/a	n/a
27	TBP	chr11:35325553-35326227	HepG2	liver:	n/a	n/a
28	ZNF143	chr11:35325590-35325969	Hela-S3	cervix:	n/a	chr11:35325760-35325779 chr11:35325763-35325778 chr11:35325817-35325835
29	RELA	chr11:35325298-35326256	GM12891	blood:	n/a	chr11:35325419-35325428 chr11:35325419-35325428
30	RAD21	chr11:35325552-35326209	Hela-S3	cervix:	n/a	n/a
31	MYC	chr11:35325388-35326260	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr11:35325312-35326310	MCF10A-Er-Src	breast:	n/a	n/a
33	GATA3	chr11:35325925-35326329	T-47D	breast:	n/a	chr11:35326135-35326142
34	POLR2A	chr11:35324688-35326297	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr11:35325654-35326265	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr11:35324183-35326953	MCF10A-Er-Src	breast:	n/a	n/a
37	CEBPB	chr11:35325412-35326183	A549	lung:	n/a	chr11:35326024-35326035 chr11:35326024-35326035 chr11:35325630-35325641
38	SP1	chr11:35325366-35326015	A549	lung:	n/a	n/a
39	FOXA2	chr11:35325929-35326310	HepG2	liver:	n/a	chr11:35326101-35326113
40	STAT3	chr11:35325283-35326248	MCF10A-Er-Src	breast:	n/a	chr11:35325761-35325772 chr11:35325760-35325774 chr11:35325300-35325312 chr11:35325763-35325771 chr11:35325757-35325777
41	POLR2A	chr11:35325359-35326380	U87	brain:	n/a	n/a
42	FOS	chr11:35325407-35326254	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr11:35325262-35326313	MCF10A-Er-Src	breast:	n/a	n/a
44	STAT1	chr11:35325518-35326138	Hela-S3	cervix:	n/a	chr11:35325760-35325774 chr11:35325763-35325771 chr11:35325757-35325777 chr11:35325761-35325772

No.	Distal block	Cell Line	Cell type
1	chr11:35324131..35326995-chr11:35344530..35347090,2	MCF-7	breast:
2	chr11:35316164..35320832-chr11:35323901..35327904,6	MCF-7	breast:
3	chr11:35294659..35299259-chr11:35323739..35329418,10	MCF-7	breast:
4	chr11:35325082..35329028-chr11:35338650..35340551,3	MCF-7	breast:
5	chr11:35323596..35326224-chr11:35411777..35414366,2	MCF-7	breast:
6	chr11:35325349..35327206-chr11:35381816..35384283,2	MCF-7	breast:
7	chr11:35325412..35330750-chr11:35411649..35414159,5	MCF-7	breast:
8	chr11:35316339..35320306-chr11:35324557..35327417,4	MCF-7	breast:
9	chr11:35325471..35328883-chr11:35329361..35332564,3	MCF-7	breast:

Variant related genes	Relation type
SLC1A2	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1042113	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10444271	0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10488816	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10488817	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10488818	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10836366	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10836368	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11033050	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11033053	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11033054	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11033055	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11033056	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11033057	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11033058	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11033060	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11033063	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11033064	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12146523	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12418812	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12576364	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12576375	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16927292	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2236272	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3794087	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3794093	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3794094	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3794097	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3829266	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3891872	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3895234	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41352148	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41525047	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4756207	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56043665	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56140126	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56402269	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61880962	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61882290	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61882291	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61882292	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61882293	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7111043	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7111055	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7111179	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7129693	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72638196	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72638197	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs752949	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7927975	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7940391	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv832120	chr11:35277410-35490304	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2758264	chr11:35319320-35480522	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2759819	chr11:35319320-35480522	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35298200-35326000	Weak transcription	Brain Substantia Nigra	brain
2	chr11:35299000-35326600	Weak transcription	Brain Hippocampus Middle	brain
3	chr11:35299800-35328600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:35302400-35327000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:35302600-35329000	Weak transcription	Brain Angular Gyrus	brain
6	chr11:35304600-35326600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:35308600-35326400	Weak transcription	Brain Anterior Caudate	brain
8	chr11:35314200-35329200	Weak transcription	Fetal Brain Male	brain
9	chr11:35314800-35327000	Weak transcription	Fetal Stomach	stomach
10	chr11:35317600-35326800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:35317600-35327600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:35322000-35327000	Weak transcription	Aorta	Aorta
13	chr11:35322600-35327400	Enhancers	Adipose Nuclei	Adipose
14	chr11:35322800-35326600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:35324000-35326800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:35324000-35327000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:35324000-35327600	Enhancers	NHDF-Ad	bronchial
18	chr11:35324000-35327800	Enhancers	NHLF	lung
19	chr11:35324000-35336200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr11:35324200-35327600	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr11:35324200-35327600	Enhancers	Osteobl	bone
22	chr11:35324400-35326200	Enhancers	Stomach Mucosa	stomach
23	chr11:35324400-35327200	Weak transcription	Esophagus	oesophagus
24	chr11:35324400-35327200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr11:35324400-35343200	Weak transcription	Gastric	stomach
26	chr11:35324600-35327200	Weak transcription	Fetal Muscle Leg	muscle
27	chr11:35324800-35327600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:35325000-35326800	Weak transcription	Small Intestine	intestine
29	chr11:35325000-35326800	Enhancers	GM12878-XiMat	blood
30	chr11:35325200-35326000	Flanking Active TSS	Liver	Liver
31	chr11:35325200-35327800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:35325200-35327800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:35325200-35328600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:35325200-35339000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:35325400-35326000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:35325400-35326000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr11:35325400-35326000	Flanking Active TSS	A549	lung
38	chr11:35325400-35327400	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr11:35325400-35327400	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr11:35325400-35327800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:35325400-35327800	Strong transcription	Fetal Brain Female	brain
42	chr11:35325600-35326600	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr11:35325600-35326600	Weak transcription	Fetal Lung	lung
44	chr11:35325600-35327200	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr11:35325600-35327200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:35325600-35327400	Enhancers	Pancreas	Pancrea
47	chr11:35325600-35327800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr11:35325600-35327800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr11:35325600-35327800	Enhancers	Placenta	Placenta
50	chr11:35325600-35327800	Enhancers	Stomach Smooth Muscle	stomach

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