Variant report

Variant	rs60782941
Chromosome Location	chr8:42848631-42848632
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10453137	0.98[AFR][1000 genomes]
rs11987452	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11988227	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11990369	0.98[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11991133	0.98[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11992397	0.98[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11992660	0.98[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11992682	0.98[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11992987	0.88[AFR][1000 genomes]
rs11993667	0.98[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11994115	0.88[AFR][1000 genomes]
rs11994318	0.98[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11995172	0.88[AFR][1000 genomes]
rs11995473	0.98[AFR][1000 genomes]
rs11995810	0.87[AFR][1000 genomes]
rs11997992	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2194902	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs28799623	0.98[AFR][1000 genomes]
rs28840077	0.88[AFR][1000 genomes]
rs34489103	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs35506493	0.86[AFR][1000 genomes]
rs57363090	0.85[EUR][1000 genomes]
rs57797146	0.81[EUR][1000 genomes]
rs57986156	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs58081556	0.98[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs58641534	0.84[AFR][1000 genomes]
rs59213790	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs60133450	0.88[AFR][1000 genomes]
rs60443202	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs61224035	0.90[AFR][1000 genomes]
rs61733908	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7004940	0.85[EUR][1000 genomes]
rs73627229	0.98[AFR][1000 genomes]
rs73627242	0.98[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73627249	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73627250	0.92[AFR][1000 genomes]
rs73627252	0.98[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73627261	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73627273	0.98[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73627274	0.98[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73627276	0.98[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73627278	0.98[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73627280	0.98[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73627282	0.98[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73627288	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73627294	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73629103	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73629108	0.82[AFR][1000 genomes]
rs73634652	0.86[AFR][1000 genomes]
rs73634670	0.86[AFR][1000 genomes]
rs73634673	0.86[AFR][1000 genomes]
rs73634677	0.85[AFR][1000 genomes]
rs73634682	0.86[AFR][1000 genomes]
rs73634696	0.88[AFR][1000 genomes]
rs73635313	0.90[AFR][1000 genomes]
rs73635316	0.90[AFR][1000 genomes]
rs73635325	0.90[AFR][1000 genomes]
rs73635331	0.87[AFR][1000 genomes]
rs73635345	0.94[AFR][1000 genomes]
rs73635352	0.98[AFR][1000 genomes]
rs73635357	0.90[AFR][1000 genomes]
rs73635362	0.98[AFR][1000 genomes]
rs73635364	0.98[AFR][1000 genomes]
rs73635365	0.91[AFR][1000 genomes]
rs73635366	0.98[AFR][1000 genomes]
rs73635368	0.98[AFR][1000 genomes]
rs73635370	0.98[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42776000-42874800	Weak transcription	Fetal Heart	heart
2	chr8:42823400-42875600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:42824800-42874800	Weak transcription	Hela-S3	cervix
4	chr8:42830800-42865400	Weak transcription	NHLF	lung
5	chr8:42830800-42865800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr8:42831600-42865800	Weak transcription	Right Ventricle	heart
7	chr8:42831800-42872200	Weak transcription	Gastric	stomach
8	chr8:42833000-42851200	Weak transcription	Aorta	Aorta
9	chr8:42837400-42848800	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr8:42837400-42850200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:42838200-42865800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:42838200-42872200	Weak transcription	K562	blood
13	chr8:42839000-42853000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr8:42839000-42858200	Weak transcription	Small Intestine	intestine
15	chr8:42839000-42866400	Weak transcription	Pancreas	Pancrea
16	chr8:42840200-42866000	Weak transcription	Spleen	Spleen
17	chr8:42840200-42866600	Weak transcription	HepG2	liver
18	chr8:42841800-42849800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr8:42841800-42860200	Strong transcription	Liver	Liver
20	chr8:42842000-42848800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:42842400-42851400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:42843400-42853000	Weak transcription	Brain Hippocampus Middle	brain
23	chr8:42844200-42857400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:42844200-42865400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr8:42844400-42866600	Weak transcription	Esophagus	oesophagus
26	chr8:42844600-42873200	Weak transcription	HMEC	breast
27	chr8:42844800-42865000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr8:42845200-42849000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:42845600-42848800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:42845800-42848800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:42845800-42849000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:42846000-42848800	ZNF genes & repeats	Fetal Brain Female	brain
33	chr8:42846200-42851000	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr8:42846200-42853200	Weak transcription	NH-A	brain
35	chr8:42846200-42865600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr8:42846400-42850600	Weak transcription	Fetal Brain Male	brain
37	chr8:42846400-42864600	Weak transcription	NHDF-Ad	bronchial
38	chr8:42846600-42848800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
39	chr8:42846800-42858800	Weak transcription	Brain Angular Gyrus	brain
40	chr8:42847000-42889400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:42847200-42850600	Weak transcription	HUVEC	blood vessel
42	chr8:42847200-42851400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr8:42847200-42851600	Weak transcription	Primary T cells from cord blood	blood
44	chr8:42847200-42864200	Weak transcription	HSMMtube	muscle
45	chr8:42847200-42864400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr8:42847200-42865800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:42847200-42867200	Weak transcription	Colonic Mucosa	Colon
48	chr8:42847200-42886800	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr8:42847400-42850400	Weak transcription	NHEK	skin
50	chr8:42847400-42857400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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