Variant report

Variant	rs73984331
Chromosome Location	chr2:210980936-210980937
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs56301246	1.00[AMR][1000 genomes]
rs56839181	1.00[AMR][1000 genomes]
rs57873720	1.00[AMR][1000 genomes]
rs60728418	1.00[AMR][1000 genomes]
rs60760690	1.00[AMR][1000 genomes]
rs6739874	1.00[AMR][1000 genomes]
rs6745814	1.00[AMR][1000 genomes]
rs73984320	0.81[AFR][1000 genomes]
rs73984326	0.84[AFR][1000 genomes]
rs73984328	0.81[AFR][1000 genomes]
rs73984335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73984336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73984340	1.00[AMR][1000 genomes]
rs73984343	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73984345	1.00[AMR][1000 genomes]
rs73984346	1.00[AMR][1000 genomes]
rs73984351	1.00[AMR][1000 genomes]
rs73984352	1.00[AMR][1000 genomes]
rs73984374	1.00[AMR][1000 genomes]
rs7598431	0.81[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	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1004426	chr2:210709999-211001680	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv1802749	chr2:210905194-211255611	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210921200-210991200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:210956000-210990200	Weak transcription	HSMMtube	muscle
3	chr2:210963400-210995600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:210965000-211009800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:210968400-210982000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:210975600-210983200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:210976400-210991200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:210977000-210988800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:210977200-210982400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
10	chr2:210978000-211010600	Weak transcription	Small Intestine	intestine
11	chr2:210978200-211009600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:210979200-210981600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:210979200-211005000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:210979400-210981400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr2:210979400-210987800	Weak transcription	Adipose Nuclei	Adipose
16	chr2:210979600-210982200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr2:210979600-210982200	Weak transcription	NHLF	lung
18	chr2:210980000-210990200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:210980200-210981400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:210980200-210981600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
21	chr2:210980200-210981600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:210980200-210981600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
23	chr2:210980200-210981800	ZNF genes & repeats	Primary T cells from cord blood	blood
24	chr2:210980200-210981800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
25	chr2:210980200-210981800	ZNF genes & repeats	Dnd41	blood
26	chr2:210980200-210982000	ZNF genes & repeats	Fetal Kidney	kidney
27	chr2:210980200-210982200	ZNF genes & repeats	Fetal Lung	lung
28	chr2:210980200-210982600	ZNF genes & repeats	Primary B cells from cord blood	blood
29	chr2:210980400-210981000	Strong transcription	Pancreatic Islets	Pancreatic Islet
30	chr2:210980400-210981400	ZNF genes & repeats	Fetal Muscle Leg	muscle
31	chr2:210980400-210981600	ZNF genes & repeats	Brain Germinal Matrix	brain
32	chr2:210980400-210981600	ZNF genes & repeats	Brain Hippocampus Middle	brain
33	chr2:210980400-210981600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:210980400-210981600	ZNF genes & repeats	Fetal Intestine Large	intestine
35	chr2:210980400-210981800	ZNF genes & repeats	Fetal Brain Female	brain
36	chr2:210980400-210985600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:210980600-210981000	Strong transcription	Ovary	ovary
38	chr2:210980600-210981000	Enhancers	Psoas Muscle	Psoas
39	chr2:210980600-210981200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:210980600-210981200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
41	chr2:210980600-210981200	Strong transcription	Liver	Liver
42	chr2:210980600-210981200	ZNF genes & repeats	Colon Smooth Muscle	Colon
43	chr2:210980600-210981200	ZNF genes & repeats	Fetal Thymus	thymus
44	chr2:210980600-210981200	Strong transcription	Left Ventricle	heart
45	chr2:210980600-210981400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
46	chr2:210980600-210981400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:210980600-210981400	ZNF genes & repeats	Aorta	Aorta
48	chr2:210980600-210981400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
49	chr2:210980600-210981400	ZNF genes & repeats	Fetal Intestine Small	intestine
50	chr2:210980600-210981400	ZNF genes & repeats	Fetal Stomach	stomach

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