Variant report

Variant	rs13390521
Chromosome Location	chr2:188915239-188915240
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10178035	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10178200	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10186464	0.85[AFR][1000 genomes]
rs10206202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13382365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13392841	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13394490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13395332	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13396017	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13396168	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13399384	0.82[AFR][1000 genomes]
rs13399474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13409305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13409842	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13410181	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13415844	1.00[AFR][1000 genomes]
rs13419775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13424259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13425223	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13428925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28533081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28796667	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59158272	0.85[AFR][1000 genomes]
rs6721351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6726657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6747109	0.85[AFR][1000 genomes]
rs7579505	1.00[AFR][1000 genomes];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	nsv533353	chr2:188498301-189024655	Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv875597	chr2:188573244-188916290	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv584041	chr2:188644642-188928433	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv523293	chr2:188774681-188928433	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv875601	chr2:188871436-188934777	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188905400-188923000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:188905600-188915600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:188907000-188915600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:188907000-188916000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:188909800-188915600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:188911400-188922000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:188911800-188915600	Weak transcription	NH-A	brain
8	chr2:188912000-188915400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:188912600-188916000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:188912800-188915600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:188913000-188915600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:188913000-188915600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:188913800-188916600	Enhancers	HSMM	muscle
14	chr2:188914200-188917000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:188915000-188915800	Enhancers	Fetal Lung	lung
16	chr2:188915000-188916000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:188915000-188916200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:188915000-188916200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr2:188915000-188916200	Enhancers	Ovary	ovary
20	chr2:188915000-188916400	Enhancers	HSMMtube	muscle
21	chr2:188915000-188916800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:188915200-188915400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:188915200-188918600	Weak transcription	Fetal Kidney	kidney

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