Variant report

Variant	rs13432027
Chromosome Location	chr2:188129203-188129204
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10174402	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10174460	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10174876	1.00[YRI][hapmap]
rs10203685	1.00[AMR][1000 genomes]
rs10208253	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10221846	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10931287	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13388347	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs13391909	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13392210	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs13396246	0.94[YRI][hapmap]
rs13399503	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13401664	1.00[AMR][1000 genomes]
rs13401762	1.00[AMR][1000 genomes]
rs13405653	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs13409677	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13414158	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13427655	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13430432	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs28363963	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28458997	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28585422	1.00[AMR][1000 genomes]
rs6434212	1.00[AMR][1000 genomes]
rs6715996	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs6721057	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6747392	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6753145	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs7578599	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7583999	1.00[AMR][1000 genomes]
rs7592458	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs7599181	0.86[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1003061	chr2:187950057-188282330	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1000617	chr2:187950057-188290511	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv875555	chr2:188023107-188143677	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2751839	chr2:188035947-188141690	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv2763652	chr2:188042583-188153257	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1004711	chr2:188044247-188142073	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv997699	chr2:188052351-188142073	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv584032	chr2:188083217-188150228	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv875556	chr2:188083300-188135654	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv533935	chr2:188089148-188284766	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv584033	chr2:188103476-188135654	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv584034	chr2:188103476-188143677	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv584035	chr2:188105078-188153421	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv1002116	chr2:188119621-188142073	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv431868	chr2:188119621-188159750	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188127400-188129800	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr2:188127400-188129800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:188127600-188130600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:188128000-188129600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr2:188128200-188129400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr2:188128400-188130000	Flanking Active TSS	HUVEC	blood vessel
7	chr2:188128600-188129400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr2:188128600-188129800	Enhancers	H9 Cell Line	embryonic stem cell
9	chr2:188128600-188129800	Enhancers	Primary hematopoietic stem cells	blood
10	chr2:188128600-188129800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:188128800-188129400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:188128800-188129800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:188129000-188129400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:188129000-188129600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:188129000-188129800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:188129000-188129800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:188129200-188129800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:188129200-188129800	Enhancers	Fetal Lung	lung
19	chr2:188129200-188130200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr2:188129200-188130400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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