Variant report

Variant	rs7824090
Chromosome Location	chr8:11322777-11322778
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11319355..11321594-chr8:11322106..11323740,2	K562	blood:
2	chr8:11322451..11325795-chr8:11329496..11335044,6	MCF-7	breast:
3	chr8:11312570..11318244-chr8:11320573..11323970,6	K562	blood:
4	chr8:11303566..11306251-chr8:11321499..11323964,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154319	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs28738823	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6601593	0.94[EUR][1000 genomes]
rs6982057	0.94[EUR][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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11303600-11323200	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr8:11313400-11323000	Enhancers	Primary B cells from cord blood	blood
3	chr8:11314200-11323200	Weak transcription	Right Atrium	heart
4	chr8:11315400-11323000	Enhancers	Primary B cells from peripheral blood	blood
5	chr8:11315600-11322800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:11316000-11322800	Enhancers	GM12878-XiMat	blood
7	chr8:11316400-11323400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:11317000-11323000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:11319200-11322800	Weak transcription	A549	lung
10	chr8:11319400-11323000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr8:11319400-11323200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:11319400-11323600	Enhancers	Gastric	stomach
13	chr8:11319800-11322800	Weak transcription	HSMM	muscle
14	chr8:11320000-11323200	Enhancers	Lung	lung
15	chr8:11320000-11323400	Enhancers	Pancreas	Pancrea
16	chr8:11320000-11323800	Enhancers	Liver	Liver
17	chr8:11320200-11322800	Enhancers	Brain Substantia Nigra	brain
18	chr8:11320800-11322800	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr8:11321000-11323200	Enhancers	Colonic Mucosa	Colon
20	chr8:11321000-11323400	Bivalent Enhancer	Fetal Stomach	stomach
21	chr8:11321200-11322800	Enhancers	Brain Germinal Matrix	brain
22	chr8:11321200-11323200	Bivalent Enhancer	Placenta	Placenta
23	chr8:11321400-11323600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:11321600-11322800	Enhancers	Adipose Nuclei	Adipose
25	chr8:11321600-11322800	Enhancers	Osteobl	bone
26	chr8:11321600-11323000	Enhancers	Brain Angular Gyrus	brain
27	chr8:11321600-11323200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:11321600-11323600	Enhancers	Esophagus	oesophagus
29	chr8:11321600-11323600	Flanking Active TSS	NHEK	skin
30	chr8:11321600-11323800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr8:11321600-11324000	Enhancers	Left Ventricle	heart
32	chr8:11321600-11325200	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr8:11321800-11322800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:11321800-11322800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:11321800-11323200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
36	chr8:11321800-11323400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:11321800-11323600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
38	chr8:11321800-11323600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:11321800-11323600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr8:11321800-11323600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
41	chr8:11321800-11323800	Bivalent Enhancer	Fetal Muscle Leg	muscle
42	chr8:11322000-11323000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr8:11322000-11323200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:11322000-11323200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:11322000-11323200	Bivalent Enhancer	Fetal Intestine Small	intestine
46	chr8:11322000-11323400	Bivalent Enhancer	Fetal Intestine Large	intestine
47	chr8:11322000-11323800	Enhancers	Primary hematopoietic stem cells	blood
48	chr8:11322000-11324000	Enhancers	Fetal Heart	heart
49	chr8:11322000-11324400	Bivalent Enhancer	Fetal Brain Male	brain
50	chr8:11322000-11324600	Active TSS	Brain Cingulate Gyrus	brain

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