Variant report

Variant	rs62407569
Chromosome Location	chr6:33538865-33538866
allele	A/G
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33532988..33536659-chr6:33537187..33540995,4	K562	blood:
2	chr6:33527175..33529562-chr6:33537058..33539940,2	K562	blood:
3	chr6:33537717..33540253-chr6:33551095..33553614,2	K562	blood:
4	chr6:33536613..33539410-chr6:33637420..33640374,2	K562	blood:
5	chr6:33375962..33378534-chr6:33537596..33540481,2	K562	blood:
6	chr6:33392929..33396981-chr6:33537285..33540754,6	MCF-7	breast:
7	chr6:33379174..33381010-chr6:33538458..33541414,2	K562	blood:
8	chr6:33533870..33536735-chr6:33537311..33539466,2	MCF-7	breast:
9	chr6:33521966..33523890-chr6:33538624..33540317,3	MCF-7	breast:
10	chr6:33538231..33539799-chr6:33543255..33545002,2	K562	blood:
11	chr6:33392424..33395335-chr6:33538728..33540669,5	K562	blood:
12	chr6:33257633..33260307-chr6:33537052..33539891,2	K562	blood:
13	chr6:33538758..33539282-chr6:33548033..33548541,2	K562	blood:
14	chr6:33533712..33536819-chr6:33537641..33540205,3	MCF-7	breast:
15	chr6:33538562..33539178-chr6:33730064..33730663,2	K562	blood:
16	chr6:33537234..33540947-chr6:33547325..33549534,4	K562	blood:
17	chr6:33537267..33540253-chr6:33551095..33553614,3	K562	blood:
18	chr6:33538816..33540942-chr6:33543611..33545834,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000204188	Chromatin interaction
ENSG00000112511	Chromatin interaction
ENSG00000030110	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs11751684	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11752179	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13198446	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17627049	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2284828	0.81[ASN][1000 genomes]
rs34222093	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34308820	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35150558	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35347341	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35381461	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3846853	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3846854	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3912039	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3912040	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3912041	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3916674	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4376348	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5000098	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55738531	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs55836835	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55963187	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56043172	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56069946	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56100919	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56199698	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56205713	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56206922	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56320735	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs56332659	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62405941	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62405942	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62405943	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62405945	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62405948	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62405949	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62405953	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62405955	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62407561	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62407562	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62407564	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62407565	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62407566	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62407567	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6906961	0.80[AMR][1000 genomes]
rs6929165	0.80[AMR][1000 genomes]
rs7751338	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7755821	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7761268	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7761464	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7765263	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7765393	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7775770	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7775914	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7776058	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7776246	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9296093	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9296094	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9461875	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9461876	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9461877	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9461878	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9461879	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9461880	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9461881	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9461882	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9461884	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9461885	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9461887	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9469486	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9469487	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9469488	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9469491	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9469492	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9469493	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9469495	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9469497	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9469498	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9469499	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9469500	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9469501	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9469503	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9469504	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9469505	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9469506	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9469513	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][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	nsv462896	chr6:33534880-33588147	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv602833	chr6:33534880-33588147	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62407569	BAK1	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33537800-33539400	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr6:33538200-33539000	Active TSS	Thymus	Thymus
3	chr6:33538200-33539600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:33538200-33539600	Flanking Active TSS	Fetal Thymus	thymus
5	chr6:33538200-33539800	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr6:33538200-33539800	Flanking Active TSS	Dnd41	blood
7	chr6:33538200-33540000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr6:33538400-33539000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:33538400-33539000	Flanking Active TSS	NHEK	skin
10	chr6:33538400-33539200	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr6:33538400-33539200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:33538400-33539200	Active TSS	Primary B cells from cord blood	blood
13	chr6:33538400-33539200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr6:33538400-33539200	Active TSS	GM12878-XiMat	blood
15	chr6:33538400-33539400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:33538400-33539400	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr6:33538400-33539400	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr6:33538400-33539400	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr6:33538400-33539400	Active TSS	Primary T cells from cord blood	blood
20	chr6:33538400-33539400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr6:33538400-33539400	Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr6:33538400-33539400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:33538400-33539400	Active TSS	Brain Anterior Caudate	brain
24	chr6:33538400-33539400	Active TSS	Brain Cingulate Gyrus	brain
25	chr6:33538400-33539400	Active TSS	Brain Hippocampus Middle	brain
26	chr6:33538400-33539400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:33538400-33539400	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr6:33538400-33539400	Active TSS	Fetal Intestine Large	intestine
29	chr6:33538400-33539400	Active TSS	Fetal Kidney	kidney
30	chr6:33538400-33539400	Active TSS	A549	lung
31	chr6:33538400-33539600	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr6:33538400-33539600	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr6:33538400-33539600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr6:33538400-33539600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr6:33538400-33539600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:33538400-33539600	Active TSS	Brain Angular Gyrus	brain
37	chr6:33538400-33539600	Active TSS	Brain Substantia Nigra	brain
38	chr6:33538400-33539600	Active TSS	Colon Smooth Muscle	Colon
39	chr6:33538400-33539600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr6:33538400-33539600	Active TSS	Fetal Brain Female	brain
41	chr6:33538400-33539600	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr6:33538400-33539600	Active TSS	NHDF-Ad	bronchial
43	chr6:33538400-33539600	Flanking Active TSS	Osteobl	bone
44	chr6:33538400-33539800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr6:33538400-33539800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:33538400-33539800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:33538400-33539800	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr6:33538400-33539800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr6:33538400-33540000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr6:33538600-33539000	Flanking Active TSS	H1 Cell Line	embryonic stem cell

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