Variant report

Variant	rs59177170
Chromosome Location	chr8:42950266-42950267
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:42949727..42953413-chr8:42957343..42960322,3	K562	blood:
2	chr8:42750799..42753603-chr8:42948649..42950323,2	MCF-7	breast:
3	chr8:42909717..42915258-chr8:42945286..42950388,10	K562	blood:
4	chr8:42947110..42950521-chr8:43131245..43133918,5	K562	blood:
5	chr8:42946558..42950569-chr8:42993092..42998053,7	MCF-7	breast:
6	chr8:42945466..42950308-chr8:42993029..42998171,6	K562	blood:
7	chr8:42947374..42951238-chr8:42993087..42998137,7	MCF-7	breast:
8	chr8:42946276..42950766-chr8:42994093..42997306,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000234713	Chromatin interaction
ENSG00000168172	Chromatin interaction
ENSG00000168522	Chromatin interaction
ENSG00000165102	Chromatin interaction
ENSG00000266044	Chromatin interaction
ENSG00000120925	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10453137	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11984488	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11984550	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11986255	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11987452	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11988102	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988197	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988227	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11988823	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11989623	0.83[AFR][1000 genomes]
rs11990369	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11991133	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11991458	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11992397	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11992567	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11992660	0.86[EUR][1000 genomes]
rs11992682	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11993667	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11994318	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11995473	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11996604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11997992	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2194902	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28799623	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34489103	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57363090	0.90[EUR][1000 genomes]
rs57797146	0.86[EUR][1000 genomes]
rs57986156	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58081556	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58641534	0.85[AMR][1000 genomes]
rs59164172	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59213790	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60443202	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60555023	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61093151	0.83[AFR][1000 genomes]
rs61733908	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6651368	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6651369	1.00[EUR][1000 genomes]
rs7004940	0.90[EUR][1000 genomes]
rs7008140	1.00[AMR][1000 genomes]
rs7010367	1.00[EUR][1000 genomes]
rs73627229	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627242	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627249	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627252	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627261	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627273	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627274	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627276	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627278	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627280	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627282	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627288	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627294	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73629103	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73629110	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73629152	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73629156	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73629161	1.00[EUR][1000 genomes]
rs73629163	1.00[EUR][1000 genomes]
rs73629177	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73629179	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73629182	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73629190	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73629192	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73629194	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73629198	0.85[AFR][1000 genomes]
rs73634666	1.00[AMR][1000 genomes]
rs73634670	1.00[AMR][1000 genomes]
rs73634673	1.00[AMR][1000 genomes]
rs73634677	1.00[AMR][1000 genomes]
rs73634682	1.00[AMR][1000 genomes]
rs73634696	1.00[AMR][1000 genomes]
rs73635313	1.00[AMR][1000 genomes]
rs73635316	1.00[AMR][1000 genomes]
rs73635325	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73635331	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73635345	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73635352	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73635362	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73635364	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73635365	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73635366	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73635368	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73635370	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7838845	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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
15	nsv1029380	chr8:42924737-43729296	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
16	nsv539565	chr8:42924737-43729296	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
17	nsv1021734	chr8:42936943-43824036	Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS 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	67 gene(s)	inside rSNPs	diseases
18	nsv470208	chr8:42937608-43791691	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
19	nsv1021100	chr8:42938287-43333639	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
20	nsv539566	chr8:42938287-43333639	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
21	nsv1035031	chr8:42940043-43575771	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
22	nsv1031842	chr8:42940043-43729296	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 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	chr8:42947200-42950800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:42947200-42950800	Active TSS	NHLF	lung
3	chr8:42948600-42950400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:42948600-42950400	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr8:42948600-42950400	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr8:42949200-42951000	Weak transcription	Gastric	stomach
7	chr8:42949200-42951000	Weak transcription	Spleen	Spleen
8	chr8:42949400-42950400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr8:42949400-42950400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:42949400-42950400	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr8:42949400-42951000	Weak transcription	Pancreas	Pancrea
12	chr8:42949400-42951600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:42949400-42953200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr8:42949400-42957000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:42949600-42950400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:42949600-42950400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr8:42949600-42950400	Flanking Active TSS	Brain Cingulate Gyrus	brain
18	chr8:42949600-42950400	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr8:42949600-42950400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:42949600-42950400	Enhancers	Small Intestine	intestine
21	chr8:42949600-42950400	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr8:42949600-42950400	Flanking Active TSS	GM12878-XiMat	blood
23	chr8:42949600-42950400	Flanking Active TSS	HepG2	liver
24	chr8:42949600-42950400	Flanking Active TSS	HMEC	breast
25	chr8:42949600-42950800	Flanking Active TSS	NHEK	skin
26	chr8:42949600-42951000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:42949600-42951000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:42949600-42951200	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr8:42949600-42951200	Flanking Active TSS	Dnd41	blood
30	chr8:42949600-42951200	Flanking Active TSS	Hela-S3	cervix
31	chr8:42949600-42951600	Enhancers	Primary B cells from peripheral blood	blood
32	chr8:42949600-42952000	Enhancers	Fetal Heart	heart
33	chr8:42949600-42952200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:42949600-42952600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:42949600-42952600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:42949600-42952600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:42949600-42952600	Weak transcription	Aorta	Aorta
38	chr8:42949800-42950400	Enhancers	Primary B cells from cord blood	blood
39	chr8:42949800-42950400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr8:42949800-42950400	Flanking Active TSS	Brain Angular Gyrus	brain
41	chr8:42949800-42950400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr8:42949800-42950400	Enhancers	Placenta	Placenta
43	chr8:42949800-42950400	Enhancers	Fetal Thymus	thymus
44	chr8:42949800-42950400	Enhancers	Psoas Muscle	Psoas
45	chr8:42949800-42950800	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr8:42949800-42951000	Enhancers	Liver	Liver
47	chr8:42949800-42951400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr8:42949800-42951400	Enhancers	Fetal Muscle Trunk	muscle
49	chr8:42949800-42951400	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr8:42949800-42951600	Enhancers	Fetal Stomach	stomach

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