Variant report

Variant	rs9493771
Chromosome Location	chr6:134274842-134274843
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:134274795..134276335-chr6:134385306..134387182,2	MCF-7	breast:
2	chr6:133132887..133135811-chr6:134273188..134277510,5	K562	blood:
3	chr6:134273314..134277341-chr6:134371733..134374606,4	K562	blood:
4	chr6:134274656..134276857-chr6:134311331..134313340,2	K562	blood:

Variant related genes	Relation type
ENSG00000112306	Chromatin interaction
ENSG00000146411	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs2239558	0.92[EUR][1000 genomes]
rs2273097	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34569027	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777894	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777896	1.00[CHB][hapmap];0.96[EUR][1000 genomes]
rs3777899	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41286224	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4896017	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56011629	0.82[AFR][1000 genomes];0.95[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[CEU][hapmap];1.00[CHB][hapmap];0.99[AFR][1000 genomes];0.95[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	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73774170	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9483631	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9483632	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs9483634	1.00[CHB][hapmap];0.97[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs9483635	0.99[AFR][1000 genomes];0.95[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	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9493770	0.98[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9493772	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9493773	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs9493774	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9493777	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9493780	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9493786	0.95[AFR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	esv3387903	chr6:134272809-134276207	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9493771	TBPL1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134272400-134275200	Active TSS	Fetal Brain Female	brain
2	chr6:134272400-134275200	Active TSS	Fetal Kidney	kidney
3	chr6:134272400-134275200	Active TSS	Stomach Smooth Muscle	stomach
4	chr6:134272400-134275400	Active TSS	Aorta	Aorta
5	chr6:134272600-134275000	Active TSS	Primary T cells fromperipheralblood	blood
6	chr6:134272600-134275200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr6:134272600-134275200	Active TSS	Brain Angular Gyrus	brain
8	chr6:134272600-134275200	Active TSS	Colonic Mucosa	Colon
9	chr6:134272600-134275200	Active TSS	Fetal Intestine Small	intestine
10	chr6:134272600-134275200	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr6:134272600-134275200	Active TSS	Rectal Smooth Muscle	rectum
12	chr6:134272600-134275200	Active TSS	Sigmoid Colon	Sigmoid Colon
13	chr6:134272600-134275200	Active TSS	HMEC	breast
14	chr6:134272600-134275600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:134272600-134275600	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr6:134272600-134275600	Active TSS	Ovary	ovary
17	chr6:134272600-134276200	Active TSS	Right Atrium	heart
18	chr6:134272800-134275000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:134272800-134275000	Active TSS	Brain Cingulate Gyrus	brain
20	chr6:134272800-134275000	Active TSS	Fetal Heart	heart
21	chr6:134272800-134275000	Active TSS	Fetal Intestine Large	intestine
22	chr6:134272800-134275000	Active TSS	Fetal Muscle Leg	muscle
23	chr6:134272800-134275000	Active TSS	Placenta	Placenta
24	chr6:134272800-134275000	Active TSS	Osteobl	bone
25	chr6:134272800-134275200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:134272800-134275200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:134272800-134275200	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr6:134272800-134275200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr6:134272800-134275200	Active TSS	Muscle Satellite Cultured Cells	--
30	chr6:134272800-134275200	Active TSS	Brain Hippocampus Middle	brain
31	chr6:134272800-134275200	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr6:134272800-134275200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:134272800-134275200	Active TSS	Duodenum Mucosa	Duodenum
34	chr6:134272800-134275200	Active TSS	Fetal Stomach	stomach
35	chr6:134272800-134275200	Active TSS	Psoas Muscle	Psoas
36	chr6:134272800-134275200	Active TSS	Right Ventricle	heart
37	chr6:134272800-134275200	Active TSS	HSMM	muscle
38	chr6:134272800-134275200	Active TSS	NHDF-Ad	bronchial
39	chr6:134272800-134275200	Active TSS	NHLF	lung
40	chr6:134272800-134275400	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr6:134272800-134275400	Active TSS	H1 Cell Line	embryonic stem cell
42	chr6:134272800-134275400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:134272800-134275400	Active TSS	Fetal Muscle Trunk	muscle
44	chr6:134272800-134275400	Active TSS	A549	lung
45	chr6:134272800-134275600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:134272800-134275800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:134272800-134275800	Active TSS	GM12878-XiMat	blood
48	chr6:134273000-134275000	Active TSS	Primary B cells from peripheral blood	blood
49	chr6:134273000-134275000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
50	chr6:134273000-134275000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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