Variant report

Variant	rs9493777
Chromosome Location	chr6:134285172-134285173
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:134273951..134276153-chr6:134283703..134286139,4	MCF-7	breast:
2	chr6:134283774..134285456-chr6:134299737..134302262,2	K562	blood:
3	chr6:134281643..134283232-chr6:134284646..134287338,2	MCF-7	breast:

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	0.92[EUR][1000 genomes]
rs2273097	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34569027	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3777894	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[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]
rs41286224	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4896017	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56011629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57486657	0.95[EUR][1000 genomes]
rs60898069	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6902440	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73548792	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73774169	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73774170	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9483631	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9483632	0.90[EUR][1000 genomes]
rs9483634	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs9483635	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9483639	0.96[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9493768	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9493770	0.95[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9493771	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9493772	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9493773	0.95[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs9493774	1.00[EUR][1000 genomes]
rs9493780	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9493786	0.94[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
rs9493777	TBPL1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:79 , 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	chr6:134276200-134299000	Weak transcription	Fetal Intestine Small	intestine
3	chr6:134276200-134303000	Weak transcription	HSMMtube	muscle
4	chr6:134276400-134285200	Weak transcription	Osteobl	bone
5	chr6:134276400-134285800	Weak transcription	Stomach Mucosa	stomach
6	chr6:134276400-134286200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr6:134276400-134290800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:134276400-134291000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr6:134276600-134288600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:134276600-134288800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:134276600-134288800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:134276600-134288800	Weak transcription	HSMM	muscle
13	chr6:134276600-134293000	Weak transcription	Fetal Lung	lung
14	chr6:134276600-134302800	Weak transcription	Fetal Kidney	kidney
15	chr6:134276600-134314000	Weak transcription	Thymus	Thymus
16	chr6:134276800-134285800	Weak transcription	Fetal Brain Male	brain
17	chr6:134277400-134288000	Weak transcription	NHLF	lung
18	chr6:134278000-134303600	Weak transcription	Dnd41	blood
19	chr6:134279400-134287000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr6:134279400-134298800	Weak transcription	Psoas Muscle	Psoas
21	chr6:134279600-134287600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:134279800-134294200	Weak transcription	Primary T cells from cord blood	blood
23	chr6:134280400-134304200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr6:134280600-134293000	Weak transcription	Liver	Liver
25	chr6:134280600-134312200	Weak transcription	Lung	lung
26	chr6:134281000-134294400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:134281200-134285800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr6:134281400-134285200	Weak transcription	GM12878-XiMat	blood
29	chr6:134281400-134286200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr6:134281400-134286600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr6:134281400-134287000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:134281400-134288800	Weak transcription	A549	lung
33	chr6:134281400-134289800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr6:134281400-134298800	Weak transcription	Ovary	ovary
35	chr6:134281600-134285800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:134282000-134286600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr6:134282000-134288200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:134282000-134298800	Weak transcription	Gastric	stomach
39	chr6:134282400-134285800	Weak transcription	Primary B cells from cord blood	blood
40	chr6:134282400-134289200	Genic enhancers	K562	blood
41	chr6:134282600-134302000	Weak transcription	Placenta	Placenta
42	chr6:134283000-134291000	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr6:134283000-134294200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr6:134283200-134287000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr6:134283200-134287000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr6:134283200-134287600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr6:134283200-134289800	Weak transcription	Right Atrium	heart
48	chr6:134283200-134305600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr6:134283400-134285800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr6:134283400-134286000	Weak transcription	Primary B cells from peripheral blood	blood

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