Variant report

Variant	rs9483634
Chromosome Location	chr6:134278561-134278562
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:134275087..134281858-chr6:134303258..134309045,8	K562	blood:
2	chr6:134276652..134279783-chr6:134349366..134352805,3	K562	blood:
3	chr6:134278042..134279721-chr6:134341535..134344135,2	K562	blood:
4	chr6:134276542..134279292-chr6:134300954..134304099,3	K562	blood:
5	chr6:134259723..134262365-chr6:134277742..134281079,4	K562	blood:
6	chr6:134277764..134279265-chr6:134409372..134411726,2	K562	blood:

Variant related genes	Relation type
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	0.93[EUR][1000 genomes]
rs2273097	0.96[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs34569027	0.95[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs3777894	0.98[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs3777896	1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777899	1.00[CHB][hapmap];0.94[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs41286224	0.96[EUR][1000 genomes]
rs4896017	0.98[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs56011629	0.98[EUR][1000 genomes]
rs57486657	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60898069	0.95[EUR][1000 genomes]
rs6902440	1.00[CHB][hapmap];0.98[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs73548792	0.95[EUR][1000 genomes]
rs73774169	0.98[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs73774170	0.98[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs9483631	1.00[CHB][hapmap];0.95[EUR][1000 genomes]
rs9483632	0.88[EUR][1000 genomes]
rs9483635	0.98[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs9483639	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9493768	1.00[CHB][hapmap];0.92[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs9493770	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9493771	1.00[CHB][hapmap];0.97[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs9493772	0.98[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs9493773	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9493774	0.98[EUR][1000 genomes]
rs9493777	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs9493780	0.98[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs9493786	0.98[AFR][1000 genomes];0.85[AMR][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
rs9483634	TBPL1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134275400-134289200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:134275600-134279400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr6:134275600-134280200	Weak transcription	Lung	lung
4	chr6:134275600-134281800	Weak transcription	Placenta	Placenta
5	chr6:134275600-134283000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:134276000-134280400	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr6:134276000-134280400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr6:134276200-134278800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr6:134276200-134278800	Weak transcription	Colon Smooth Muscle	Colon
10	chr6:134276200-134279000	Weak transcription	Adipose Nuclei	Adipose
11	chr6:134276200-134280600	Enhancers	Liver	Liver
12	chr6:134276200-134283000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:134276200-134299000	Weak transcription	Fetal Intestine Small	intestine
14	chr6:134276200-134303000	Weak transcription	HSMMtube	muscle
15	chr6:134276400-134278800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr6:134276400-134278800	Weak transcription	Psoas Muscle	Psoas
17	chr6:134276400-134280200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr6:134276400-134280800	Weak transcription	Gastric	stomach
19	chr6:134276400-134281000	Weak transcription	Aorta	Aorta
20	chr6:134276400-134283000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:134276400-134284600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:134276400-134285200	Weak transcription	Osteobl	bone
23	chr6:134276400-134285800	Weak transcription	Stomach Mucosa	stomach
24	chr6:134276400-134286200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr6:134276400-134290800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr6:134276400-134291000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr6:134276600-134278600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:134276600-134278800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr6:134276600-134278800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr6:134276600-134278800	Weak transcription	Primary B cells from cord blood	blood
31	chr6:134276600-134278800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:134276600-134278800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr6:134276600-134278800	Weak transcription	Brain Hippocampus Middle	brain
34	chr6:134276600-134278800	Weak transcription	A549	lung
35	chr6:134276600-134279000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr6:134276600-134279200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:134276600-134279200	Weak transcription	Right Atrium	heart
38	chr6:134276600-134279200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr6:134276600-134279400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:134276600-134279400	Weak transcription	HUVEC	blood vessel
41	chr6:134276600-134280000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr6:134276600-134280200	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr6:134276600-134280200	Weak transcription	Left Ventricle	heart
44	chr6:134276600-134280200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr6:134276600-134281000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:134276600-134281200	Weak transcription	HMEC	breast
47	chr6:134276600-134281200	Weak transcription	NHEK	skin
48	chr6:134276600-134281800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr6:134276600-134282400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:134276600-134283000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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