Variant report

Variant	rs9493772
Chromosome Location	chr6:134276370-134276371
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:134275087..134281858-chr6:134303258..134309045,8	K562	blood:
2	chr6:133132887..133135811-chr6:134273188..134277510,5	K562	blood:
3	chr6:134273314..134277341-chr6:134371733..134374606,4	K562	blood:
4	chr6:134275524..134278363-chr6:134292927..134296382,4	K562	blood:
5	chr5:179050328..179052454-chr6:134276328..134278240,2	K562	blood:
6	chr6:134274656..134276857-chr6:134311331..134313340,2	K562	blood:
7	chr6:134276287..134278466-chr6:134288025..134290579,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000112306	Chromatin interaction
ENSG00000146411	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000028839	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs2239558	0.92[EUR][1000 genomes]
rs2273097	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34569027	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777894	1.00[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	0.96[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56011629	0.81[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	1.00[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73774170	1.00[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	0.98[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs9483635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9483639	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9493768	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9493770	0.97[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9493771	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9493773	0.97[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs9493774	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9493777	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9493780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9493786	0.96[AFR][1000 genomes];0.96[EUR][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9493772	TBPL1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134275000-134276400	Flanking Active TSS	Brain Substantia Nigra	brain
2	chr6:134275000-134276600	Flanking Active TSS	Fetal Brain Male	brain
3	chr6:134275000-134276600	Enhancers	Spleen	Spleen
4	chr6:134275000-134276600	Flanking Active TSS	Dnd41	blood
5	chr6:134275000-134276800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:134275200-134276400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr6:134275200-134276400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:134275200-134276400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:134275200-134276400	Flanking Active TSS	Brain Angular Gyrus	brain
10	chr6:134275200-134276400	Flanking Active TSS	Brain Anterior Caudate	brain
11	chr6:134275200-134276400	Flanking Active TSS	Hela-S3	cervix
12	chr6:134275200-134276600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:134275200-134276600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:134275200-134276600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr6:134275200-134276600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr6:134275200-134276600	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr6:134275200-134276600	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr6:134275200-134276600	Flanking Active TSS	NHEK	skin
19	chr6:134275200-134276600	Flanking Active TSS	NHLF	lung
20	chr6:134275200-134276800	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr6:134275200-134276800	Flanking Active TSS	Fetal Brain Female	brain
22	chr6:134275400-134276400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr6:134275400-134276400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr6:134275400-134276400	Enhancers	Pancreas	Pancrea
25	chr6:134275400-134276600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:134275400-134276600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:134275400-134276600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr6:134275400-134276600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr6:134275400-134276600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:134275400-134276600	Enhancers	Small Intestine	intestine
31	chr6:134275400-134276600	Transcr. at gene 5' and 3'	K562	blood
32	chr6:134275400-134289200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:134275600-134276400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:134275600-134276400	Enhancers	Primary T cells fromperipheralblood	blood
35	chr6:134275600-134276400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr6:134275600-134276400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr6:134275600-134276400	Enhancers	Fetal Muscle Leg	muscle
38	chr6:134275600-134276400	Enhancers	Fetal Stomach	stomach
39	chr6:134275600-134276400	Enhancers	Gastric	stomach
40	chr6:134275600-134276400	Enhancers	Psoas Muscle	Psoas
41	chr6:134275600-134276400	Enhancers	Rectal Smooth Muscle	rectum
42	chr6:134275600-134276400	Enhancers	Stomach Mucosa	stomach
43	chr6:134275600-134276400	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr6:134275600-134276600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr6:134275600-134276600	Enhancers	H9 Cell Line	embryonic stem cell
46	chr6:134275600-134276600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:134275600-134276600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:134275600-134276600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr6:134275600-134276600	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr6:134275600-134276600	Enhancers	Fetal Lung	lung

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