Variant report

Variant	rs17031147
Chromosome Location	chr4:102214526-102214527
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17030836	1.00[AMR][1000 genomes]
rs61230063	1.00[AMR][1000 genomes]
rs6814325	1.00[AMR][1000 genomes]
rs6826452	1.00[AMR][1000 genomes]
rs6838490	1.00[AMR][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	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv999741	chr4:102009017-102454115	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537199	chr4:102009017-102454115	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1004766	chr4:102009017-102713765	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv537200	chr4:102009017-102713765	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1011351	chr4:102056024-102450302	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv879676	chr4:102202285-102340930	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102201200-102218200	Weak transcription	NHEK	skin
2	chr4:102207000-102216600	Weak transcription	NH-A	brain
3	chr4:102207600-102226400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:102210200-102214600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:102210200-102215600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr4:102210200-102225800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:102210600-102215800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr4:102211200-102215400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:102211200-102215600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:102211200-102219000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr4:102212200-102220600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr4:102212200-102226200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr4:102212400-102216600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:102212600-102227200	Weak transcription	Primary T cells from cord blood	blood
15	chr4:102212800-102215200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr4:102212800-102216800	Weak transcription	Adipose Nuclei	Adipose
17	chr4:102212800-102217400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:102212800-102221000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:102212800-102227200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr4:102212800-102228000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr4:102213000-102214800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:102213200-102218000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:102213400-102221000	Weak transcription	Stomach Mucosa	stomach
24	chr4:102213600-102215000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:102213800-102215000	Enhancers	Osteobl	bone
26	chr4:102214000-102214800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:102214200-102214600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr4:102214200-102214600	Enhancers	Esophagus	oesophagus
29	chr4:102214200-102214600	Genic enhancers	Ovary	ovary
30	chr4:102214200-102214800	Enhancers	Aorta	Aorta
31	chr4:102214200-102214800	Enhancers	Psoas Muscle	Psoas
32	chr4:102214200-102214800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr4:102214200-102215000	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr4:102214200-102215000	Genic enhancers	Pancreas	Pancrea
35	chr4:102214400-102214600	Enhancers	Right Atrium	heart
36	chr4:102214400-102214600	Enhancers	Right Ventricle	heart
37	chr4:102214400-102214600	Weak transcription	A549	lung
38	chr4:102214400-102214800	Enhancers	Brain Anterior Caudate	brain
39	chr4:102214400-102214800	Weak transcription	Colon Smooth Muscle	Colon
40	chr4:102214400-102214800	Enhancers	Gastric	stomach
41	chr4:102214400-102215000	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr4:102214400-102215200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:102214400-102215400	Strong transcription	Primary B cells from cord blood	blood

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