Variant report

Variant	rs17023307
Chromosome Location	chr2:100546306-100546307
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10205511	1.00[YRI][hapmap]
rs6758669	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs72953772	1.00[AFR][1000 genomes]
rs72953781	0.83[AFR][1000 genomes]
rs72953793	0.86[AFR][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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100517600-100550200	Weak transcription	Primary T cells from cord blood	blood
2	chr2:100523400-100558200	Weak transcription	Fetal Lung	lung
3	chr2:100532200-100555000	Weak transcription	Liver	Liver
4	chr2:100533800-100548200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:100537200-100550400	Weak transcription	Dnd41	blood
6	chr2:100539400-100548800	Weak transcription	Lung	lung
7	chr2:100539400-100550200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:100540200-100572600	Weak transcription	Adipose Nuclei	Adipose
9	chr2:100540600-100550200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:100541200-100550200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:100541800-100575000	Weak transcription	Brain Germinal Matrix	brain
12	chr2:100542800-100546600	Weak transcription	Fetal Brain Male	brain
13	chr2:100543400-100550200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:100543800-100546600	Enhancers	Primary B cells from peripheral blood	blood
15	chr2:100544000-100546600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:100545400-100548800	Weak transcription	GM12878-XiMat	blood
17	chr2:100545600-100546400	Weak transcription	Primary B cells from cord blood	blood
18	chr2:100545600-100572600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr2:100546000-100559400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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