Variant report

Variant	rs73209250
Chromosome Location	chr8:11314277-11314278
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11312294..11314584-chr8:11324898..11327052,2	K562	blood:
2	chr8:11304077..11306061-chr8:11313210..11316017,2	K562	blood:
3	chr8:11273893..11276099-chr8:11313214..11316137,2	MCF-7	breast:
4	chr8:11312570..11318244-chr8:11320573..11323970,6	K562	blood:
5	chr8:11313214..11317170-chr8:11317580..11320923,5	K562	blood:
6	chr8:11313788..11316536-chr8:11322548..11325766,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154319	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs2001462	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3021512	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3021517	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3021518	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55764254	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56003968	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56138616	0.90[EUR][1000 genomes]
rs56235592	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56286613	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56388647	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58319820	0.84[EUR][1000 genomes]
rs58387061	0.85[EUR][1000 genomes]
rs60320871	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs66934548	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67350204	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67526040	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67539049	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67684445	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67909842	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67932868	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs68063127	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6981704	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73207493	0.85[EUR][1000 genomes]
rs73207496	0.90[EUR][1000 genomes]
rs73207500	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73209223	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73209241	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73209243	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73209249	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73209254	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73209259	0.85[AFR][1000 genomes]
rs73546310	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73546312	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7832089	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7839434	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
9	esv3443447	chr8:11310642-11315840	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv13461	chr8:11312680-11314577	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3438005	chr8:11313367-11315915	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 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	chr8:11308400-11314600	Enhancers	Thymus	Thymus
6	chr8:11308600-11314800	Enhancers	Primary B cells from peripheral blood	blood
7	chr8:11308800-11316600	Enhancers	Primary T cells from cord blood	blood
8	chr8:11310400-11316400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:11310600-11314600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr8:11310800-11316200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr8:11311200-11316200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr8:11311200-11317000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr8:11311200-11317200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:11311400-11315200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:11311600-11314800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:11311600-11316600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr8:11312400-11315400	Enhancers	Right Ventricle	heart
18	chr8:11312400-11316400	Enhancers	Stomach Mucosa	stomach
19	chr8:11312800-11314800	Weak transcription	NHDF-Ad	bronchial
20	chr8:11312800-11315200	Enhancers	Esophagus	oesophagus
21	chr8:11312800-11315400	Enhancers	Lung	lung
22	chr8:11312800-11318600	Weak transcription	Fetal Brain Female	brain
23	chr8:11313000-11315400	Enhancers	Pancreas	Pancrea
24	chr8:11313000-11318000	Weak transcription	Brain Germinal Matrix	brain
25	chr8:11313200-11316600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:11313400-11314800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:11313400-11314800	Weak transcription	Brain Angular Gyrus	brain
28	chr8:11313400-11316000	Enhancers	Colonic Mucosa	Colon
29	chr8:11313400-11323000	Enhancers	Primary B cells from cord blood	blood
30	chr8:11313600-11314400	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr8:11313600-11314600	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr8:11313600-11314600	Enhancers	GM12878-XiMat	blood
33	chr8:11313600-11315200	Enhancers	Left Ventricle	heart
34	chr8:11313600-11316400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr8:11313600-11316800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:11313600-11317400	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr8:11313600-11318200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:11313600-11320200	Enhancers	Brain Hippocampus Middle	brain
39	chr8:11313800-11314400	ZNF genes & repeats	Fetal Intestine Large	intestine
40	chr8:11313800-11314400	Flanking Active TSS	A549	lung
41	chr8:11313800-11315000	Weak transcription	Brain Substantia Nigra	brain
42	chr8:11313800-11315000	Enhancers	NHEK	skin
43	chr8:11313800-11315200	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr8:11313800-11315600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:11313800-11315600	Enhancers	Dnd41	blood
46	chr8:11313800-11316400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr8:11314000-11314400	Enhancers	HMEC	breast
48	chr8:11314000-11314800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:11314000-11315000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:11314000-11315200	Enhancers	Duodenum Mucosa	Duodenum

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