Variant report

Variant	rs73978672
Chromosome Location	chr2:190380931-190380932
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190379388..190384195-chr2:190384322..190387858,5	K562	blood:
2	chr2:190378521..190380492-chr2:190380676..190383131,3	MCF-7	breast:
3	chr2:190380308..190383170-chr2:190385325..190387858,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1225102	1.00[AMR][1000 genomes]
rs55836009	0.82[AFR][1000 genomes]
rs55979997	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56087520	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56207532	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56941749	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57804388	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59752566	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978670	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978671	0.87[AFR][1000 genomes]
rs73978695	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978696	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978697	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978698	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978699	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978700	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978701	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978702	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980203	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980204	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980205	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190376000-190386000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:190376400-190382000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:190376600-190384800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:190377400-190383000	Weak transcription	Fetal Lung	lung
5	chr2:190378200-190385800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:190378400-190382000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr2:190379400-190381000	Enhancers	Brain Hippocampus Middle	brain
8	chr2:190379600-190381000	Enhancers	Adipose Nuclei	Adipose
9	chr2:190379600-190381800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:190379600-190382400	Enhancers	K562	blood
11	chr2:190379800-190386600	Weak transcription	Psoas Muscle	Psoas
12	chr2:190380000-190381000	Enhancers	Ovary	ovary
13	chr2:190380000-190382000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:190380200-190381000	Enhancers	Primary B cells from cord blood	blood
15	chr2:190380400-190391800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:190380600-190381000	Enhancers	Right Atrium	heart
17	chr2:190380600-190381200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr2:190380800-190381600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:190380800-190382600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:190380800-190385800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:190380800-190385800	Weak transcription	Aorta	Aorta
22	chr2:190380800-190386000	Weak transcription	Stomach Mucosa	stomach

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