Variant report

Variant	rs28613753
Chromosome Location	chr8:11318062-11318063
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11313214..11317170-chr8:11317580..11320923,5	K562	blood:
2	chr8:11312570..11318244-chr8:11320573..11323970,6	K562	blood:
3	chr8:11278797..11280380-chr8:11316966..11319071,2	K562	blood:
4	chr8:11159367..11162691-chr8:11316510..11321033,4	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11775640	0.88[AMR][1000 genomes]
rs11775779	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2409776	0.88[AMR][1000 genomes]
rs2409777	0.88[AMR][1000 genomes]
rs2618484	0.89[ASN][1000 genomes]
rs2736318	0.89[ASN][1000 genomes]
rs28485693	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35592057	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35667120	0.89[ASN][1000 genomes]
rs4585709	0.83[ASN][1000 genomes]
rs4840563	0.94[ASN][1000 genomes]
rs4840564	0.94[ASN][1000 genomes]
rs4841531	0.81[EUR][1000 genomes]
rs60532605	0.83[ASN][1000 genomes]
rs7823274	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7844316	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv522860	chr8:11253879-11330364	Bivalent/Poised TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv890357	chr8:11286146-11330364	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1030756	chr8:11292073-11332782	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11296200-11319200	Enhancers	Fetal Thymus	thymus
2	chr8:11303600-11323200	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr8:11307200-11322000	Weak transcription	HSMMtube	muscle
4	chr8:11307600-11319800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:11312800-11318600	Weak transcription	Fetal Brain Female	brain
6	chr8:11313400-11323000	Enhancers	Primary B cells from cord blood	blood
7	chr8:11313600-11318200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:11313600-11320200	Enhancers	Brain Hippocampus Middle	brain
9	chr8:11314000-11319000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:11314200-11319400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:11314200-11323200	Weak transcription	Right Atrium	heart
12	chr8:11314800-11318200	Enhancers	Brain Angular Gyrus	brain
13	chr8:11315000-11319200	Weak transcription	NHEK	skin
14	chr8:11315400-11319400	Weak transcription	Gastric	stomach
15	chr8:11315400-11319800	Enhancers	Brain Substantia Nigra	brain
16	chr8:11315400-11320000	Weak transcription	Pancreas	Pancrea
17	chr8:11315400-11323000	Enhancers	Primary B cells from peripheral blood	blood
18	chr8:11315600-11318200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:11315600-11318600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:11315600-11318800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:11315600-11321600	Weak transcription	Spleen	Spleen
22	chr8:11315600-11322800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:11315800-11320800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr8:11316000-11318400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:11316000-11318800	Weak transcription	HSMM	muscle
26	chr8:11316000-11319400	Weak transcription	Colonic Mucosa	Colon
27	chr8:11316000-11320000	Weak transcription	Liver	Liver
28	chr8:11316000-11322800	Enhancers	GM12878-XiMat	blood
29	chr8:11316200-11318600	Weak transcription	Osteobl	bone
30	chr8:11316400-11323400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:11316600-11319400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr8:11316600-11319600	Weak transcription	Thymus	Thymus
33	chr8:11317000-11318200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:11317000-11319200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr8:11317000-11323000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr8:11317200-11318200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:11317200-11318200	Weak transcription	A549	lung
38	chr8:11317200-11318800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr8:11317200-11320800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr8:11317200-11322000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr8:11317200-11322000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:11317200-11322000	Weak transcription	Fetal Heart	heart
43	chr8:11317400-11318600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:11317600-11321800	Enhancers	Brain Anterior Caudate	brain
45	chr8:11317800-11319000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr8:11317800-11319800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:11318000-11319200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr8:11318000-11319600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:11318000-11319800	Enhancers	Brain Germinal Matrix	brain
50	chr8:11318000-11320200	Enhancers	Fetal Brain Male	brain

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