Variant report

Variant	rs2284828
Chromosome Location	chr6:33548493-33548494
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:33548467-33548820	K562	blood:	n/a	chr6:33548647-33548658
2	MYBL2	chr6:33547794-33548523	HepG2	liver:	n/a	n/a
3	CREB1	chr6:33547924-33548495	HepG2	liver:	n/a	n/a
4	POLR2A	chr6:33547632-33548506	SK-N-MC	brain:	n/a	n/a
5	FOXA2	chr6:33548081-33548559	A549	lung:	n/a	n/a
6	MXI1	chr6:33547359-33548617	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr6:33547445-33548501	PFSK-1	brain:	n/a	n/a
8	MAX	chr6:33547762-33548507	A549	lung:	n/a	n/a
9	REST	chr6:33547519-33548654	H1-neurons	neurons:	n/a	chr6:33548107-33548120

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33381203..33384118-chr6:33546265..33549089,2	K562	blood:
2	chr19:50432772..50433317-chr6:33548039..33548579,2	NB4	blood:
3	chr6:33538758..33539282-chr6:33548033..33548541,2	K562	blood:
4	chr6:33394086..33395846-chr6:33548309..33550543,2	K562	blood:
5	chr6:33546298..33549471-chr6:33550091..33553469,5	K562	blood:
6	chr6:33546546..33549178-chr6:33588334..33590241,2	K562	blood:

No data

Variant related genes	Relation type
BAK1	TF binding region
GGNBP1	TF binding region
ENSG00000096433	Chromatin interaction
ENSG00000213024	Chromatin interaction
ENSG00000112511	Chromatin interaction
ENSG00000104951	Chromatin interaction
ENSG00000204188	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17627049	0.81[ASN][1000 genomes]
rs62407562	0.82[AMR][1000 genomes]
rs62407565	0.81[ASN][1000 genomes]
rs62407567	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62407569	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv885770	chr6:33543409-33614127	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2284828	BAK1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33548000-33548600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:33548000-33548600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:33548000-33548600	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr6:33548000-33548800	Enhancers	Stomach Mucosa	stomach
5	chr6:33548200-33548600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:33548200-33548600	Enhancers	Primary T cells from cord blood	blood
7	chr6:33548200-33548600	Enhancers	Primary T cells fromperipheralblood	blood
8	chr6:33548200-33548600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:33548200-33548600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:33548200-33548600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr6:33548200-33548600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:33548200-33548600	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr6:33548200-33548600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr6:33548200-33548600	Enhancers	Fetal Thymus	thymus
15	chr6:33548200-33548600	Enhancers	Pancreas	Pancrea
16	chr6:33548200-33548800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr6:33548200-33548800	Enhancers	NHEK	skin
18	chr6:33548200-33549200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr6:33548200-33551200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:33548200-33553000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr6:33548200-33553000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:33548400-33548600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:33548400-33548600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:33548400-33548600	Enhancers	Primary B cells from peripheral blood	blood
25	chr6:33548400-33548600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr6:33548400-33548600	Enhancers	Brain Cingulate Gyrus	brain
27	chr6:33548400-33548600	Enhancers	Fetal Muscle Leg	muscle
28	chr6:33548400-33548600	Enhancers	Fetal Stomach	stomach
29	chr6:33548400-33548600	Enhancers	Left Ventricle	heart
30	chr6:33548400-33548600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr6:33548400-33548600	Enhancers	Dnd41	blood
32	chr6:33548400-33548600	Enhancers	K562	blood
33	chr6:33548400-33548600	Enhancers	Osteobl	bone
34	chr6:33548400-33548800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:33548400-33548800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr6:33548400-33548800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:33548400-33548800	Enhancers	Brain Anterior Caudate	brain
38	chr6:33548400-33548800	Enhancers	Colon Smooth Muscle	Colon
39	chr6:33548400-33548800	Enhancers	Fetal Intestine Large	intestine
40	chr6:33548400-33548800	Enhancers	A549	lung
41	chr6:33548400-33548800	Enhancers	Hela-S3	cervix
42	chr6:33548400-33549000	Enhancers	Fetal Intestine Small	intestine
43	chr6:33548400-33549200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:33548400-33549200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:33548400-33549200	Enhancers	HepG2	liver
46	chr6:33548400-33550000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr6:33548400-33551000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr6:33548400-33551200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr6:33548400-33551200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr6:33548400-33551200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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