Variant report

Variant	rs60257378
Chromosome Location	chr8:27384832-27384833
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:27383825..27386547-chr8:27386549..27389189,3	K562	blood:
2	chr8:27383825..27386547-chr8:27386549..27389189,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs4149237	0.86[ASN][1000 genomes]
rs56187906	0.93[AFR][1000 genomes]
rs57442348	0.90[AFR][1000 genomes]
rs59338093	1.00[AFR][1000 genomes]
rs59365325	0.90[AFR][1000 genomes]
rs59683646	1.00[AFR][1000 genomes]
rs60319016	0.86[AFR][1000 genomes]
rs60709011	1.00[AFR][1000 genomes]
rs61586133	0.90[AFR][1000 genomes]
rs6558001	0.96[AFR][1000 genomes]
rs6995058	0.93[AFR][1000 genomes]
rs7006736	0.96[AFR][1000 genomes]
rs7017595	0.93[AFR][1000 genomes]
rs72475804	0.93[AFR][1000 genomes]
rs72475805	0.86[AFR][1000 genomes]
rs72475823	0.90[AFR][1000 genomes]
rs72475825	0.90[AFR][1000 genomes]
rs72475857	1.00[AFR][1000 genomes]
rs72475878	1.00[AFR][1000 genomes]
rs72475879	1.00[AFR][1000 genomes]
rs72475898	1.00[AFR][1000 genomes]
rs72477587	0.93[AFR][1000 genomes]
rs72477588	0.93[AFR][1000 genomes]
rs72478904	0.93[AFR][1000 genomes]
rs73679204	0.96[AFR][1000 genomes]
rs73679208	0.96[AFR][1000 genomes]
rs7819348	1.00[AFR][1000 genomes]
rs7838218	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020582	chr8:27309768-27406844	Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers 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	6 gene(s)	inside rSNPs	diseases
2	nsv1019182	chr8:27314836-27398162	Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv831275	chr8:27328290-27481605	Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	nsv890696	chr8:27377162-27441010	Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv465627	chr8:27383901-27450535	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv610866	chr8:27383901-27450535	Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:27359400-27402400	Weak transcription	Fetal Brain Male	brain
2	chr8:27362200-27402800	Weak transcription	Fetal Heart	heart
3	chr8:27362800-27405200	Weak transcription	Psoas Muscle	Psoas
4	chr8:27364800-27394200	Weak transcription	Small Intestine	intestine
5	chr8:27365000-27391600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr8:27365000-27393200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr8:27365600-27395600	Weak transcription	Gastric	stomach
8	chr8:27365800-27399600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:27368200-27413400	Weak transcription	Fetal Kidney	kidney
10	chr8:27368600-27398600	Weak transcription	A549	lung
11	chr8:27368800-27395800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr8:27372800-27385000	Strong transcription	Liver	Liver
13	chr8:27372800-27385000	Weak transcription	Fetal Muscle Leg	muscle
14	chr8:27372800-27413200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:27373000-27393200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:27373400-27388800	Weak transcription	Adipose Nuclei	Adipose
17	chr8:27373400-27394600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:27373600-27387000	Strong transcription	Duodenum Mucosa	Duodenum
19	chr8:27373600-27406800	Strong transcription	Fetal Intestine Large	intestine
20	chr8:27374000-27398400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:27374200-27403000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:27375200-27385600	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr8:27375200-27386400	Strong transcription	Primary T cells from cord blood	blood
24	chr8:27375600-27386800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:27375600-27394200	Strong transcription	Thymus	Thymus
26	chr8:27375600-27394800	Strong transcription	Fetal Intestine Small	intestine
27	chr8:27375800-27385200	Strong transcription	Pancreas	Pancrea
28	chr8:27375800-27386200	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr8:27377000-27389200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr8:27377400-27393600	Weak transcription	Brain Substantia Nigra	brain
31	chr8:27377400-27399600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr8:27377600-27394400	Weak transcription	Brain Anterior Caudate	brain
33	chr8:27380600-27385800	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr8:27381000-27386400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr8:27381800-27386600	Strong transcription	Rectal Smooth Muscle	rectum
36	chr8:27381800-27387200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr8:27382400-27398800	Weak transcription	K562	blood
38	chr8:27382600-27386000	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr8:27382800-27385600	Strong transcription	Stomach Smooth Muscle	stomach
40	chr8:27382800-27385800	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr8:27382800-27386800	Strong transcription	Fetal Stomach	stomach
42	chr8:27383200-27386000	Strong transcription	Esophagus	oesophagus
43	chr8:27383200-27386000	Strong transcription	Ovary	ovary
44	chr8:27383400-27385400	Strong transcription	Spleen	Spleen
45	chr8:27383600-27388800	Weak transcription	Colonic Mucosa	Colon
46	chr8:27383800-27388800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr8:27383800-27391800	Weak transcription	Colon Smooth Muscle	Colon
48	chr8:27384000-27385000	Weak transcription	HepG2	liver
49	chr8:27384000-27388600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr8:27384000-27388800	Weak transcription	Lung	lung

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