Variant report

Variant	rs2490443
Chromosome Location	chr1:161968542-161968543
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161967385..161969148-chr1:161971026..161972952,2	MCF-7	breast:
2	chr1:161966226..161968937-chr1:161972125..161974541,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2490419	0.95[AFR][1000 genomes]
rs2490421	1.00[AFR][1000 genomes]
rs2499837	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2499840	0.90[AFR][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	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv464206	chr1:161798239-162067447	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv470744	chr1:161798239-162067447	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer 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 miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv548077	chr1:161798239-162067447	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1007108	chr1:161925814-162002917	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv831747	chr1:161926367-162103311	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv548078	chr1:161941219-161980502	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161954000-161972400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:161959400-161973200	Weak transcription	NHLF	lung
3	chr1:161963200-161970400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:161963200-161971800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:161963800-161972800	Weak transcription	Fetal Intestine Small	intestine
6	chr1:161964000-161973800	Weak transcription	Thymus	Thymus
7	chr1:161964200-161972200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:161965000-161970000	Strong transcription	HSMM	muscle
9	chr1:161965000-161980800	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:161965200-161970200	Strong transcription	Aorta	Aorta
11	chr1:161965200-161984600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:161965400-161969200	Strong transcription	HSMMtube	muscle
13	chr1:161965400-161970400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:161965400-161973000	Weak transcription	Brain Substantia Nigra	brain
15	chr1:161965400-161976200	Strong transcription	Fetal Stomach	stomach
16	chr1:161965600-161969600	Strong transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:161965600-161972400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:161965600-161978600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:161965800-161970600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:161965800-161972000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:161966200-161972200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:161966400-161971200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr1:161966600-161970800	Weak transcription	Fetal Intestine Large	intestine
24	chr1:161966800-161971600	Strong transcription	Fetal Muscle Trunk	muscle
25	chr1:161966800-161971800	Strong transcription	Fetal Muscle Leg	muscle
26	chr1:161967000-161969400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:161967000-161971000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:161967200-161970000	Strong transcription	Adipose Nuclei	Adipose
29	chr1:161967400-161970800	Strong transcription	NHDF-Ad	bronchial
30	chr1:161967400-161971000	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:161967800-161968800	Strong transcription	Rectal Smooth Muscle	rectum
32	chr1:161967800-161969800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:161968000-161968600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:161968000-161969600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:161968000-161969600	Weak transcription	Lung	lung
36	chr1:161968000-161972400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:161968000-161972400	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:161968000-161972400	Weak transcription	Osteobl	bone
39	chr1:161968000-161973600	Weak transcription	Esophagus	oesophagus
40	chr1:161968200-161972400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr1:161968400-161969000	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr1:161968400-161969600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr1:161968400-161969800	Enhancers	NH-A	brain
44	chr1:161968400-161979800	Weak transcription	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links