Variant report

Variant	rs1887709
Chromosome Location	chr13:93888166-93888167
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	chr13:93874469..93877049-chr13:93887079..93889596,2	K562	blood:
2	chr13:93886916..93888621-chr13:108561557..108564159,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1116259	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1116260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11839667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11840691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11843447	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12427542	0.90[EUR][1000 genomes]
rs1887707	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1887708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2031844	0.86[EUR][1000 genomes]
rs369570	0.94[CEU][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4773722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7326297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7334414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7992869	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7994461	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7999192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7999514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7999706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9516198	1.00[CEU][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9516199	0.84[CEU][hapmap];0.92[EUR][1000 genomes]
rs9523967	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9523968	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9523969	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9523970	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9523971	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9523972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9523976	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9523978	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9523982	0.83[CEU][hapmap];0.92[EUR][1000 genomes]
rs9523983	0.89[EUR][1000 genomes]
rs9556274	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9561283	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9561289	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9561293	0.92[EUR][1000 genomes]
rs9561294	0.84[CEU][hapmap];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869070	chr13:93347616-94286933	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1053035	chr13:93842576-94229732	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541880	chr13:93842576-94229732	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93883200-93888400	Weak transcription	NH-A	brain
2	chr13:93883200-93890000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr13:93883200-93896000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr13:93883200-93896000	Weak transcription	HSMM	muscle
5	chr13:93883400-93888800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:93884000-93888800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr13:93884400-93889800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:93885400-93888400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr13:93885800-93888600	Enhancers	Adipose Nuclei	Adipose
10	chr13:93885800-93888800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:93886000-93888600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:93886200-93888800	Enhancers	Liver	Liver
13	chr13:93886400-93888200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr13:93886400-93888400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr13:93886400-93888600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr13:93886400-93888600	Enhancers	Osteobl	bone
17	chr13:93886400-93888800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr13:93886400-93889800	Weak transcription	Fetal Intestine Large	intestine
19	chr13:93886600-93888400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr13:93886600-93888600	Weak transcription	Fetal Intestine Small	intestine
21	chr13:93886600-93889800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr13:93886600-93895800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr13:93886600-93895800	Weak transcription	Fetal Stomach	stomach
24	chr13:93886800-93888400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr13:93886800-93890600	Weak transcription	HepG2	liver
26	chr13:93886800-93895600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr13:93886800-93895600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr13:93886800-93895600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr13:93887000-93888200	Enhancers	Brain Germinal Matrix	brain
30	chr13:93887400-93888600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr13:93887400-93888800	Enhancers	Colon Smooth Muscle	Colon
32	chr13:93887400-93890000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr13:93887600-93888200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr13:93887600-93888400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr13:93887800-93888400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr13:93888000-93888200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr13:93888000-93888400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr13:93888000-93888600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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