Variant report

Variant	rs17022813
Chromosome Location	chr2:100260006-100260007
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	chr2:100256848..100260746-chr2:100260857..100263366,4	K562	blood:

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

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

rs_ID	r²[population]
rs10174396	1.00[EUR][1000 genomes]
rs10177312	1.00[EUR][1000 genomes]
rs10185545	1.00[EUR][1000 genomes]
rs10206307	1.00[EUR][1000 genomes]
rs10460487	1.00[EUR][1000 genomes]
rs10496341	1.00[EUR][1000 genomes]
rs2163043	1.00[EUR][1000 genomes]
rs28520449	1.00[EUR][1000 genomes]
rs36003621	1.00[EUR][1000 genomes]
rs4369915	1.00[EUR][1000 genomes]
rs6705968	1.00[EUR][1000 genomes]
rs6731353	1.00[EUR][1000 genomes]
rs6742771	1.00[EUR][1000 genomes]
rs6757828	1.00[EUR][1000 genomes]
rs7578030	1.00[EUR][1000 genomes]
rs7604438	1.00[EUR][1000 genomes]
rs7605228	1.00[EUR][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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS 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	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100252400-100263800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:100253200-100308800	Weak transcription	Gastric	stomach
3	chr2:100253600-100260400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:100253600-100260400	Weak transcription	Psoas Muscle	Psoas
5	chr2:100253600-100260600	Weak transcription	Brain Substantia Nigra	brain
6	chr2:100253800-100260400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:100254000-100260400	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:100254000-100265000	Weak transcription	Spleen	Spleen
9	chr2:100255200-100260200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:100255400-100268600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:100255400-100285400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:100255400-100285400	Weak transcription	Dnd41	blood
13	chr2:100256600-100267400	Weak transcription	Fetal Thymus	thymus
14	chr2:100257200-100260600	Weak transcription	Fetal Kidney	kidney
15	chr2:100257600-100260400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:100257600-100260400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:100257600-100260600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:100257600-100265000	Weak transcription	Left Ventricle	heart
19	chr2:100257600-100308600	Weak transcription	Thymus	Thymus
20	chr2:100257800-100260200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:100257800-100260400	Weak transcription	Right Ventricle	heart
22	chr2:100257800-100260600	Weak transcription	Fetal Heart	heart
23	chr2:100258200-100260800	Enhancers	Fetal Brain Male	brain
24	chr2:100259200-100260400	Weak transcription	Primary B cells from cord blood	blood
25	chr2:100259200-100262200	Enhancers	Fetal Brain Female	brain
26	chr2:100259400-100274600	Weak transcription	Primary T cells from cord blood	blood
27	chr2:100259800-100261400	Enhancers	Brain Germinal Matrix	brain
28	chr2:100259800-100261400	Enhancers	Colon Smooth Muscle	Colon
29	chr2:100259800-100261400	Enhancers	Fetal Muscle Leg	muscle
30	chr2:100259800-100261400	Enhancers	Fetal Stomach	stomach
31	chr2:100260000-100260200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:100260000-100260200	Genic enhancers	Primary B cells from peripheral blood	blood
33	chr2:100260000-100260200	Enhancers	Right Atrium	heart
34	chr2:100260000-100261200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:100260000-100261400	Enhancers	Fetal Lung	lung
36	chr2:100260000-100261400	Enhancers	Pancreas	Pancrea
37	chr2:100260000-100261400	Enhancers	Rectal Smooth Muscle	rectum
38	chr2:100260000-100261400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr2:100260000-100261400	Enhancers	Stomach Smooth Muscle	stomach
40	chr2:100260000-100261600	Enhancers	Adipose Nuclei	Adipose
41	chr2:100260000-100261800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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