Variant report

Variant	rs57363090
Chromosome Location	chr8:42914458-42914459
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:42914243..42917240-chr8:42995506..42997109,2	K562	blood:
2	chr8:42696228..42698600-chr8:42913525..42916456,2	K562	blood:
3	chr8:42914214..42918635-chr8:42925467..42929517,5	K562	blood:
4	chr8:42749514..42753230-chr8:42909984..42914905,15	K562	blood:
5	chr8:42909717..42915258-chr8:42945286..42950388,10	K562	blood:
6	chr8:42697873..42699734-chr8:42914180..42915934,2	K562	blood:
7	chr8:42914177..42916500-chr8:42947400..42950137,2	K562	blood:

Variant related genes	Relation type
ENSG00000168172	Chromatin interaction
ENSG00000185900	Chromatin interaction
ENSG00000131931	Chromatin interaction
ENSG00000120925	Chromatin interaction
ENSG00000200731	Chromatin interaction
ENSG00000165102	Chromatin interaction
ENSG00000266044	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10453137	0.90[EUR][1000 genomes]
rs10675533	0.87[EUR][1000 genomes]
rs11984488	0.90[EUR][1000 genomes]
rs11984550	0.90[EUR][1000 genomes]
rs11984732	0.81[EUR][1000 genomes]
rs11986255	0.90[EUR][1000 genomes]
rs11987452	1.00[EUR][1000 genomes]
rs11988102	0.90[EUR][1000 genomes]
rs11988197	0.90[EUR][1000 genomes]
rs11988227	1.00[EUR][1000 genomes]
rs11988823	0.90[EUR][1000 genomes]
rs11990369	1.00[EUR][1000 genomes]
rs11991133	1.00[EUR][1000 genomes]
rs11991458	0.90[EUR][1000 genomes]
rs11992397	1.00[EUR][1000 genomes]
rs11992567	0.90[EUR][1000 genomes]
rs11992660	0.95[EUR][1000 genomes]
rs11992682	1.00[EUR][1000 genomes]
rs11993667	1.00[EUR][1000 genomes]
rs11994318	1.00[EUR][1000 genomes]
rs11995473	0.90[EUR][1000 genomes]
rs11996604	0.90[EUR][1000 genomes]
rs11997992	1.00[EUR][1000 genomes]
rs17622134	0.81[EUR][1000 genomes]
rs2194902	1.00[EUR][1000 genomes]
rs28799623	0.90[EUR][1000 genomes]
rs34489103	1.00[EUR][1000 genomes]
rs57797146	0.95[EUR][1000 genomes]
rs57986156	1.00[EUR][1000 genomes]
rs58081556	1.00[EUR][1000 genomes]
rs58641534	0.81[EUR][1000 genomes]
rs59164172	0.90[EUR][1000 genomes]
rs59177170	0.90[EUR][1000 genomes]
rs59213790	1.00[EUR][1000 genomes]
rs59531993	0.81[EUR][1000 genomes]
rs60443202	1.00[EUR][1000 genomes]
rs60555023	0.90[EUR][1000 genomes]
rs60782941	0.85[EUR][1000 genomes]
rs61733908	1.00[EUR][1000 genomes]
rs6651368	0.90[EUR][1000 genomes]
rs6651369	0.90[EUR][1000 genomes]
rs7004940	1.00[EUR][1000 genomes]
rs7008140	0.81[EUR][1000 genomes]
rs7010367	0.90[EUR][1000 genomes]
rs73627229	0.90[EUR][1000 genomes]
rs73627242	1.00[EUR][1000 genomes]
rs73627249	1.00[EUR][1000 genomes]
rs73627252	1.00[EUR][1000 genomes]
rs73627261	1.00[EUR][1000 genomes]
rs73627273	1.00[EUR][1000 genomes]
rs73627274	1.00[EUR][1000 genomes]
rs73627276	1.00[EUR][1000 genomes]
rs73627278	1.00[EUR][1000 genomes]
rs73627280	1.00[EUR][1000 genomes]
rs73627282	1.00[EUR][1000 genomes]
rs73627288	1.00[EUR][1000 genomes]
rs73627294	1.00[EUR][1000 genomes]
rs73629103	1.00[EUR][1000 genomes]
rs73629110	0.90[EUR][1000 genomes]
rs73629152	0.90[EUR][1000 genomes]
rs73629156	0.90[EUR][1000 genomes]
rs73629161	0.90[EUR][1000 genomes]
rs73629163	0.90[EUR][1000 genomes]
rs73629177	0.90[EUR][1000 genomes]
rs73629179	0.90[EUR][1000 genomes]
rs73629182	0.90[EUR][1000 genomes]
rs73629190	0.90[EUR][1000 genomes]
rs73629192	0.90[EUR][1000 genomes]
rs73629194	0.86[EUR][1000 genomes]
rs73634666	0.81[EUR][1000 genomes]
rs73634670	0.81[EUR][1000 genomes]
rs73634673	0.81[EUR][1000 genomes]
rs73634677	0.81[EUR][1000 genomes]
rs73634682	0.81[EUR][1000 genomes]
rs73634696	0.81[EUR][1000 genomes]
rs73635313	0.81[EUR][1000 genomes]
rs73635325	0.90[EUR][1000 genomes]
rs73635331	0.90[EUR][1000 genomes]
rs73635345	0.90[EUR][1000 genomes]
rs73635352	0.90[EUR][1000 genomes]
rs73635362	0.90[EUR][1000 genomes]
rs73635364	0.90[EUR][1000 genomes]
rs73635365	0.90[EUR][1000 genomes]
rs73635366	0.90[EUR][1000 genomes]
rs73635368	0.90[EUR][1000 genomes]
rs73635370	0.90[EUR][1000 genomes]
rs7820326	0.81[EUR][1000 genomes]
rs7838845	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv1021281	chr8:42807619-43472678	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
8	nsv429912	chr8:42852444-43701143	ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv869499	chr8:42858608-43541986	Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
10	nsv916847	chr8:42858611-43541984	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
11	nsv1027779	chr8:42863024-43729296	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
12	nsv1025336	chr8:42905623-43333638	ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
13	nsv539564	chr8:42905623-43333638	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
14	nsv831302	chr8:42909483-43105520	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42912800-42914800	Enhancers	Fetal Brain Male	brain
2	chr8:42912800-42915000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:42912800-42915200	Enhancers	Brain Angular Gyrus	brain
4	chr8:42912800-42917000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:42912800-42918000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:42912800-42918600	Weak transcription	Fetal Kidney	kidney
7	chr8:42912800-42920400	Weak transcription	Aorta	Aorta
8	chr8:42912800-42924200	Weak transcription	Gastric	stomach
9	chr8:42912800-42924600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:42912800-42936000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:42912800-42936600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:42912800-42943800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr8:42912800-42948000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:42913000-42915400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr8:42913000-42916800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:42913000-42917000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:42913000-42917800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:42913000-42917800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr8:42913000-42919000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr8:42913000-42920200	Weak transcription	HSMMtube	muscle
21	chr8:42913000-42920400	Weak transcription	Left Ventricle	heart
22	chr8:42913000-42920400	Weak transcription	Right Ventricle	heart
23	chr8:42913000-42924000	Weak transcription	Esophagus	oesophagus
24	chr8:42913000-42924000	Weak transcription	Pancreas	Pancrea
25	chr8:42913000-42924400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr8:42913000-42924400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:42913000-42924400	Weak transcription	Spleen	Spleen
28	chr8:42913000-42941200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:42913200-42916400	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr8:42913200-42916800	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr8:42913200-42917600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr8:42913200-42918600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:42913400-42914600	Genic enhancers	A549	lung
34	chr8:42913400-42914800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:42913400-42914800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:42913400-42914800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:42913400-42914800	Enhancers	Brain Germinal Matrix	brain
38	chr8:42913400-42914800	Enhancers	HMEC	breast
39	chr8:42913400-42914800	Enhancers	Osteobl	bone
40	chr8:42913400-42915200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:42913400-42915200	Enhancers	Brain Anterior Caudate	brain
42	chr8:42913400-42915200	Enhancers	Colon Smooth Muscle	Colon
43	chr8:42913400-42915800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:42913400-42916400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr8:42913400-42916600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr8:42913400-42916600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:42913400-42916600	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr8:42913400-42917600	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr8:42913400-42917600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr8:42913400-42917800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links