Variant report

Variant	rs7598290
Chromosome Location	chr2:100517862-100517863
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100517793..100520158-chr2:100527407..100530218,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs56710070	1.00[AMR][1000 genomes]
rs72966491	1.00[AMR][1000 genomes]
rs72966493	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv2757820	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2759078	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1003114	chr2:100480432-100601586	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100499200-100533400	Weak transcription	Aorta	Aorta
2	chr2:100503800-100523200	Weak transcription	Thymus	Thymus
3	chr2:100508200-100520400	Weak transcription	Fetal Kidney	kidney
4	chr2:100509200-100519200	Strong transcription	Primary B cells from cord blood	blood
5	chr2:100515400-100521200	Weak transcription	Lung	lung
6	chr2:100515600-100518200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:100515600-100521400	Weak transcription	Spleen	Spleen
8	chr2:100515600-100537800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:100516200-100518200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr2:100516600-100518200	Enhancers	Fetal Muscle Leg	muscle
11	chr2:100516800-100518200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr2:100516800-100518200	Enhancers	HSMMtube	muscle
13	chr2:100517000-100519200	Enhancers	Fetal Heart	heart
14	chr2:100517200-100518000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:100517200-100518200	Enhancers	Fetal Brain Male	brain
16	chr2:100517200-100520600	Weak transcription	Right Atrium	heart
17	chr2:100517200-100520600	Weak transcription	Right Ventricle	heart
18	chr2:100517400-100520600	Weak transcription	Left Ventricle	heart
19	chr2:100517600-100521400	Weak transcription	Psoas Muscle	Psoas
20	chr2:100517600-100550200	Weak transcription	Primary T cells from cord blood	blood
21	chr2:100517800-100519000	Enhancers	Fetal Stomach	stomach
22	chr2:100517800-100521200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr2:100517800-100521200	Weak transcription	Fetal Brain Female	brain
24	chr2:100517800-100521600	Weak transcription	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links