Variant report

Variant	rs60760320
Chromosome Location	chr3:45949539-45949540
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	chr3:45948084..45950746-chr3:45951152..45952829,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1078355	1.00[EUR][1000 genomes]
rs56817174	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59028610	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6782398	1.00[EUR][1000 genomes]
rs6782429	1.00[EUR][1000 genomes]
rs6783694	1.00[EUR][1000 genomes]
rs6794222	0.88[AFR][1000 genomes]
rs6800925	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72885402	1.00[EUR][1000 genomes]
rs72887108	1.00[EUR][1000 genomes]
rs72890685	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72890688	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72890691	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72890697	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72890701	1.00[AFR][1000 genomes]
rs7614902	0.93[AFR][1000 genomes]
rs7628090	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv834678	chr3:45804294-46010256	Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv876736	chr3:45900621-46027410	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:45925200-45949600	Weak transcription	Pancreas	Pancrea
2	chr3:45932400-45960200	Weak transcription	Fetal Intestine Small	intestine
3	chr3:45934000-45960200	Weak transcription	Right Ventricle	heart
4	chr3:45936600-45950200	Genic enhancers	Fetal Thymus	thymus
5	chr3:45940000-45959800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr3:45941200-45952400	Weak transcription	Psoas Muscle	Psoas
7	chr3:45941400-45960000	Weak transcription	Adipose Nuclei	Adipose
8	chr3:45943000-45961000	Weak transcription	Brain Substantia Nigra	brain
9	chr3:45943200-45950800	Genic enhancers	Thymus	Thymus
10	chr3:45943600-45961200	Weak transcription	Gastric	stomach
11	chr3:45946200-45956800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:45946200-45960400	Weak transcription	Aorta	Aorta
13	chr3:45946600-45950000	ZNF genes & repeats	GM12878-XiMat	blood
14	chr3:45947000-45960200	Weak transcription	Lung	lung
15	chr3:45947800-45949800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:45947800-45949800	Enhancers	NH-A	brain
17	chr3:45947800-45950000	Enhancers	NHDF-Ad	bronchial
18	chr3:45947800-45950200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:45947800-45950200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:45947800-45950200	Enhancers	Duodenum Mucosa	Duodenum
21	chr3:45947800-45956800	Transcr. at gene 5' and 3'	Dnd41	blood
22	chr3:45948000-45949600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:45948000-45949800	Enhancers	NHLF	lung
24	chr3:45948000-45950000	Weak transcription	Primary B cells from cord blood	blood
25	chr3:45948000-45950000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:45948000-45950000	Enhancers	Osteobl	bone
27	chr3:45948000-45950200	Enhancers	Placenta	Placenta
28	chr3:45948200-45949800	Enhancers	Fetal Stomach	stomach
29	chr3:45948200-45949800	Enhancers	Stomach Mucosa	stomach
30	chr3:45948200-45961000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr3:45948400-45961600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr3:45948600-45949800	Enhancers	Fetal Muscle Leg	muscle
33	chr3:45948600-45950000	Enhancers	Fetal Muscle Trunk	muscle
34	chr3:45948600-45951000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr3:45948800-45949600	Enhancers	Primary T cells from cord blood	blood
36	chr3:45948800-45949600	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr3:45948800-45949600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr3:45948800-45949800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr3:45948800-45949800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr3:45948800-45949800	Flanking Active TSS	HSMM	muscle
41	chr3:45948800-45950000	Enhancers	Esophagus	oesophagus
42	chr3:45948800-45950000	Flanking Active TSS	HSMMtube	muscle
43	chr3:45948800-45950600	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr3:45948800-45951800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr3:45948800-45960200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr3:45949000-45949800	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr3:45949000-45949800	Enhancers	Small Intestine	intestine
48	chr3:45949000-45950000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr3:45949000-45950000	Weak transcription	Colonic Mucosa	Colon
50	chr3:45949000-45950400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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