Variant report

Variant	rs62407567
Chromosome Location	chr6:33537213-33537214
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr6:33536613..33539410-chr6:33637420..33640374,2	K562	blood:
4	chr6:33257633..33260307-chr6:33537052..33539891,2	K562	blood:
5	chr6:33532988..33535545-chr6:33537116..33538687,2	K562	blood:
6	chr6:33241430..33244166-chr6:33536289..33538432,2	K562	blood:

Variant related genes	Relation type
ENSG00000231500	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs11751684	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11752179	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11755542	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11757035	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11757738	0.82[EUR][1000 genomes]
rs13198446	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17627049	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2284828	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34222093	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34308820	0.83[EUR][1000 genomes]
rs35150558	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35347341	0.83[EUR][1000 genomes]
rs35381461	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3846853	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3846854	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3912039	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3912040	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3912041	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3916674	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4376348	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5000098	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55782090	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55963187	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56043172	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56069946	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56100919	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56199698	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56205713	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56206922	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56332659	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62405926	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62405941	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62405942	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62405943	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62405948	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62405949	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62405953	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62405955	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62407561	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62407562	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62407564	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62407565	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62407566	0.94[EUR][1000 genomes]
rs62407569	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7751338	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7755821	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7761268	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7761464	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7765263	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7765393	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7775770	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7775914	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7776058	0.82[EUR][1000 genomes]
rs7776246	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9296094	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9461875	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9461876	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9461877	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9461879	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9461880	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9461881	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9461882	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9461885	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9461887	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9469486	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9469487	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9469488	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9469491	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9469492	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9469495	0.81[EUR][1000 genomes]
rs9469498	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9469499	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9469500	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9469501	0.86[EUR][1000 genomes]
rs9469503	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9469504	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9469505	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9469506	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9469513	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[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
rs62407567	BAK1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33516800-33537600	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr6:33530400-33537600	Weak transcription	GM12878-XiMat	blood
3	chr6:33530400-33538800	Weak transcription	Esophagus	oesophagus
4	chr6:33531000-33538200	Weak transcription	Primary T cells from cord blood	blood
5	chr6:33531400-33538400	Weak transcription	Osteobl	bone
6	chr6:33533200-33538400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:33533200-33538600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:33533600-33537600	Weak transcription	Fetal Thymus	thymus
9	chr6:33533800-33538400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr6:33534200-33538600	Weak transcription	Fetal Muscle Leg	muscle
11	chr6:33534400-33538400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:33534600-33538400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr6:33534600-33538600	Weak transcription	Fetal Intestine Small	intestine
14	chr6:33534600-33538800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:33534800-33537800	Weak transcription	Thymus	Thymus
16	chr6:33534800-33538400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:33534800-33538400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr6:33535000-33538200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:33535000-33538400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:33535000-33538600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:33535000-33538600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:33535000-33538600	Weak transcription	HMEC	breast
23	chr6:33535200-33538400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:33535200-33538400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr6:33535400-33538400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:33535600-33538400	Weak transcription	NHEK	skin
27	chr6:33535600-33538400	Weak transcription	NHLF	lung
28	chr6:33536000-33537800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr6:33536000-33538200	Weak transcription	Fetal Brain Male	brain
30	chr6:33536000-33538400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr6:33536000-33538400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:33536000-33538400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:33536000-33538400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr6:33536000-33538600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:33536000-33538600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:33536000-33538600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:33536200-33538400	Weak transcription	Brain Germinal Matrix	brain
38	chr6:33536200-33538400	Weak transcription	Fetal Heart	heart
39	chr6:33536200-33538600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr6:33536200-33538600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:33536600-33538600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr6:33536800-33537800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr6:33537000-33538400	Weak transcription	Fetal Kidney	kidney
44	chr6:33537000-33538400	Weak transcription	HepG2	liver
45	chr6:33537000-33538600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr6:33537000-33538600	Weak transcription	Fetal Stomach	stomach
47	chr6:33537200-33538400	Weak transcription	K562	blood

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