Variant report

Variant	rs34569027
Chromosome Location	chr6:134272700-134272701
allele	-/C
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	NR3C1	chr6:134272531-134272773	A549	lung:	n/a	n/a
2	POLR2A	chr6:134272371-134274622	GM12891	blood:	n/a	n/a
3	KAP1	chr6:134272517-134273299	U2OS	brain:	n/a	n/a
4	MXI1	chr6:134272040-134277846	SK-N-SH	brain:	n/a	n/a
5	MXI1	chr6:134272356-134275033	IMR90	lung:	n/a	n/a
6	POLR2A	chr6:134272570-134274980	GM12878	blood:	n/a	n/a
7	RELA	chr6:134272581-134274599	GM15510	blood:	n/a	n/a
8	NR3C1	chr6:134272365-134272816	A549	lung:	n/a	n/a

Variant related genes	Relation type
TBPL1	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs2239558	0.92[EUR][1000 genomes]
rs2273097	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3777894	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777896	0.96[EUR][1000 genomes]
rs3777899	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41286224	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4896017	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56011629	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57486657	0.95[EUR][1000 genomes]
rs60898069	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6902440	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548792	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73774169	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73774170	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9483631	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9483632	0.90[EUR][1000 genomes]
rs9483634	0.95[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs9483635	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9483639	0.92[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9493768	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9493770	0.96[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9493771	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9493772	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9493773	0.94[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs9493774	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9493777	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9493780	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9493786	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34122	chr6:134089019-134378252	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv1840176	chr6:134268822-134274297	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
3	esv1838635	chr6:134269008-134273139	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134272200-134272800	Flanking Active TSS	NHLF	lung
2	chr6:134272200-134272800	Flanking Active TSS	Osteobl	bone
3	chr6:134272200-134273000	Enhancers	Gastric	stomach
4	chr6:134272200-134273000	Enhancers	Stomach Mucosa	stomach
5	chr6:134272200-134273200	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr6:134272400-134272800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
7	chr6:134272400-134272800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:134272400-134272800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:134272400-134272800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr6:134272400-134272800	Enhancers	Primary hematopoietic stem cells	blood
11	chr6:134272400-134272800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:134272400-134272800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr6:134272400-134272800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:134272400-134272800	Flanking Active TSS	Brain Cingulate Gyrus	brain
15	chr6:134272400-134272800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
16	chr6:134272400-134272800	Enhancers	Colon Smooth Muscle	Colon
17	chr6:134272400-134272800	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr6:134272400-134272800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr6:134272400-134272800	Enhancers	Fetal Stomach	stomach
20	chr6:134272400-134272800	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr6:134272400-134272800	Enhancers	Right Ventricle	heart
22	chr6:134272400-134272800	Flanking Active TSS	A549	lung
23	chr6:134272400-134272800	Flanking Active TSS	GM12878-XiMat	blood
24	chr6:134272400-134272800	Flanking Active TSS	HSMM	muscle
25	chr6:134272400-134272800	Enhancers	K562	blood
26	chr6:134272400-134272800	Flanking Active TSS	NHDF-Ad	bronchial
27	chr6:134272400-134273000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:134272400-134273000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:134272400-134273000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr6:134272400-134273000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:134272400-134273000	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr6:134272400-134273000	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr6:134272400-134273000	Flanking Active TSS	Brain Substantia Nigra	brain
34	chr6:134272400-134273000	Flanking Active TSS	Fetal Lung	lung
35	chr6:134272400-134273000	Enhancers	Pancreas	Pancrea
36	chr6:134272400-134273000	Enhancers	Spleen	Spleen
37	chr6:134272400-134273000	Flanking Active TSS	HSMMtube	muscle
38	chr6:134272400-134273000	Flanking Active TSS	NH-A	brain
39	chr6:134272400-134273200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr6:134272400-134273200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr6:134272400-134274000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:134272400-134275200	Active TSS	Fetal Brain Female	brain
43	chr6:134272400-134275200	Active TSS	Fetal Kidney	kidney
44	chr6:134272400-134275200	Active TSS	Stomach Smooth Muscle	stomach
45	chr6:134272400-134275400	Active TSS	Aorta	Aorta
46	chr6:134272600-134272800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr6:134272600-134272800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
48	chr6:134272600-134272800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
49	chr6:134272600-134272800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
50	chr6:134272600-134272800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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