Variant report

Variant	rs17051276
Chromosome Location	chr4:120528064-120528065
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10013852	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10021469	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10434030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10434031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10434032	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10518332	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10518333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12331661	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17007472	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17051278	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17355550	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs17357002	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17359764	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17359910	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17360333	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2389872	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2389876	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2389877	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2389878	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2389884	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2953290	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2953294	0.82[EUR][1000 genomes]
rs4102980	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4146266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4833621	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58613543	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58735454	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6534145	1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6534148	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6831062	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72922580	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72922588	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72922598	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7670921	1.00[CHB][hapmap]
rs8180145	0.90[ASN][1000 genomes]
rs8180147	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1010753	chr4:120429028-120684310	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537233	chr4:120429028-120684310	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1006572	chr4:120432494-120694243	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120492200-120540000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:120502600-120541000	Weak transcription	Left Ventricle	heart
3	chr4:120512600-120530400	Weak transcription	Colonic Mucosa	Colon
4	chr4:120512800-120531600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:120514200-120528600	Weak transcription	Gastric	stomach
6	chr4:120517000-120531400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:120517000-120536600	Weak transcription	Ovary	ovary
8	chr4:120518800-120547200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr4:120519000-120533400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:120519600-120528600	Strong transcription	Osteobl	bone
11	chr4:120520200-120529800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr4:120520200-120536400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:120520400-120533200	Weak transcription	Fetal Intestine Small	intestine
14	chr4:120520400-120537600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr4:120520600-120529600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:120520800-120529400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:120521000-120529800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:120521000-120544800	Weak transcription	Fetal Intestine Large	intestine
19	chr4:120522000-120530400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:120524000-120528400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:120524600-120530400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr4:120525400-120528800	Strong transcription	NHLF	lung
23	chr4:120525400-120531200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr4:120525800-120538800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:120526200-120546800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr4:120526400-120529400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr4:120526400-120530600	Weak transcription	Colon Smooth Muscle	Colon
28	chr4:120526400-120544200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr4:120526600-120532600	Weak transcription	Fetal Lung	lung
30	chr4:120526600-120535400	Weak transcription	Fetal Brain Male	brain
31	chr4:120526800-120529600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr4:120527400-120528200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr4:120527400-120536400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr4:120527600-120528400	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr4:120527600-120528600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:120527600-120528600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:120527600-120528800	Strong transcription	Fetal Stomach	stomach
38	chr4:120527600-120528800	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr4:120527800-120528200	Strong transcription	Lung	lung
40	chr4:120527800-120528400	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr4:120527800-120528600	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr4:120527800-120528600	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr4:120527800-120528600	Strong transcription	Duodenum Mucosa	Duodenum
44	chr4:120527800-120528600	Strong transcription	Fetal Muscle Leg	muscle
45	chr4:120527800-120528600	Genic enhancers	Pancreas	Pancrea
46	chr4:120527800-120528600	Strong transcription	Rectal Smooth Muscle	rectum
47	chr4:120527800-120528800	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr4:120527800-120528800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:120527800-120528800	Genic enhancers	Aorta	Aorta
50	chr4:120527800-120528800	Strong transcription	Sigmoid Colon	Sigmoid Colon

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