Variant report

Variant	rs2273097
Chromosome Location	chr6:134305494-134305495
allele	C/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	POLR2A	chr6:134305446-134305924	K562	blood:	n/a	n/a
2	POLR2A	chr6:134301184-134306312	K562	blood:	n/a	n/a

Variant related genes	Relation type
TBPL1	TF binding region

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

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

rs_ID	r²[population]
rs2239558	0.90[EUR][1000 genomes]
rs34569027	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3777894	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3777896	0.98[EUR][1000 genomes]
rs3777899	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41286224	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4896017	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56011629	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57486657	0.96[EUR][1000 genomes]
rs60898069	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6902440	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73548792	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73774169	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73774170	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9483631	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9483632	0.92[EUR][1000 genomes]
rs9483634	0.96[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9483635	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9483639	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs9493768	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9493770	0.95[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs9493771	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9493772	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9493773	0.95[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9493774	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9493777	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9493780	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9493786	0.98[AFR][1000 genomes];0.98[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
rs2273097	TBPL1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134276600-134314000	Weak transcription	Thymus	Thymus
2	chr6:134280600-134312200	Weak transcription	Lung	lung
3	chr6:134283200-134305600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:134285000-134316600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:134288200-134311800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:134288400-134306600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr6:134290800-134316400	Weak transcription	Esophagus	oesophagus
8	chr6:134295000-134313800	Weak transcription	Spleen	Spleen
9	chr6:134295200-134311800	Weak transcription	Brain Germinal Matrix	brain
10	chr6:134297000-134318000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr6:134299400-134307200	Weak transcription	Left Ventricle	heart
12	chr6:134299400-134311800	Weak transcription	Gastric	stomach
13	chr6:134299400-134312000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:134299400-134313200	Weak transcription	Psoas Muscle	Psoas
15	chr6:134299400-134313400	Weak transcription	Aorta	Aorta
16	chr6:134299400-134313800	Weak transcription	Right Ventricle	heart
17	chr6:134299600-134310200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:134299800-134305800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr6:134299800-134307000	Weak transcription	Ovary	ovary
20	chr6:134299800-134312000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr6:134299800-134313600	Weak transcription	Fetal Heart	heart
22	chr6:134299800-134314000	Weak transcription	Fetal Brain Male	brain
23	chr6:134300400-134312200	Weak transcription	Small Intestine	intestine
24	chr6:134300400-134315400	Weak transcription	Fetal Intestine Small	intestine
25	chr6:134300600-134305800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr6:134300600-134306800	Weak transcription	Stomach Mucosa	stomach
27	chr6:134300600-134312000	Weak transcription	NHLF	lung
28	chr6:134301000-134312400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:134302000-134308400	Strong transcription	Placenta	Placenta
30	chr6:134302400-134307600	Strong transcription	GM12878-XiMat	blood
31	chr6:134302400-134308200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:134302600-134307800	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr6:134302600-134308800	Strong transcription	Liver	Liver
34	chr6:134302600-134309200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:134302800-134307400	Strong transcription	Duodenum Mucosa	Duodenum
36	chr6:134302800-134308400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:134302800-134308400	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr6:134302800-134308400	Strong transcription	Fetal Lung	lung
39	chr6:134302800-134324000	Weak transcription	Fetal Muscle Leg	muscle
40	chr6:134303000-134306000	Strong transcription	Brain Anterior Caudate	brain
41	chr6:134303000-134306200	Strong transcription	Fetal Intestine Large	intestine
42	chr6:134303000-134306200	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr6:134303000-134306200	Strong transcription	NHDF-Ad	bronchial
44	chr6:134303000-134306600	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr6:134303000-134308000	Strong transcription	HSMM	muscle
46	chr6:134303000-134308600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:134303000-134308600	Strong transcription	HUVEC	blood vessel
48	chr6:134303000-134309400	Strong transcription	Primary B cells from peripheral blood	blood
49	chr6:134303200-134308000	Strong transcription	Stomach Smooth Muscle	stomach
50	chr6:134303200-134312200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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