Variant report

Variant	rs4569130
Chromosome Location	chr13:40026977-40026978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1014636	0.80[MEX][hapmap];0.83[TSI][hapmap]
rs1040962	0.85[CEU][hapmap]
rs2011719	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2012553	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2148933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2182780	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2182781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4340189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4456371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4499118	0.88[MEX][hapmap];0.84[AMR][1000 genomes]
rs4941928	0.85[CEU][hapmap]
rs4943666	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6563706	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6563707	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6563708	0.92[CEU][hapmap];1.00[JPT][hapmap]
rs6563710	0.91[JPT][hapmap]
rs7319652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7322023	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7326279	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7330999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7334760	0.89[CEU][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap]
rs7337916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs737645	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7983763	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7985325	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7990079	0.80[MEX][hapmap];0.82[TSI][hapmap]
rs7996782	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7998182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8000420	1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9315688	0.88[MEX][hapmap];0.84[AMR][1000 genomes]
rs943568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9532382	0.85[CEU][hapmap]
rs9532383	0.92[CEU][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap]
rs9548779	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9566446	0.92[CEU][hapmap]
rs9576805	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576807	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9576809	0.80[MEX][hapmap];0.85[TSI][hapmap]
rs9576810	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9576811	0.84[AMR][1000 genomes]
rs9576812	0.83[AMR][1000 genomes]
rs9603544	0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1011	chr13:40008962-40034177	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv561536	chr13:40015948-40043224	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40021800-40027800	Enhancers	Fetal Heart	heart
2	chr13:40022000-40029200	Weak transcription	Spleen	Spleen
3	chr13:40023000-40028000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr13:40023400-40035000	Weak transcription	Aorta	Aorta
5	chr13:40024000-40028000	Enhancers	Brain Hippocampus Middle	brain
6	chr13:40024600-40027200	Enhancers	Brain Cingulate Gyrus	brain
7	chr13:40024600-40027400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr13:40024600-40027600	Enhancers	Adipose Nuclei	Adipose
9	chr13:40024600-40028000	Enhancers	Colon Smooth Muscle	Colon
10	chr13:40024600-40028200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr13:40024600-40028200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr13:40024800-40027000	Enhancers	Primary B cells from cord blood	blood
13	chr13:40025000-40027400	Enhancers	Primary hematopoietic stem cells	blood
14	chr13:40025000-40027600	Enhancers	Brain Anterior Caudate	brain
15	chr13:40025000-40028000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr13:40025200-40027000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:40025200-40028000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr13:40025400-40028000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr13:40025400-40028000	Enhancers	Brain Germinal Matrix	brain
20	chr13:40025400-40028200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr13:40025600-40027200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr13:40025600-40027200	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr13:40025600-40027400	Enhancers	Fetal Lung	lung
24	chr13:40025600-40028200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:40025600-40028200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr13:40025600-40033400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr13:40025800-40027200	Enhancers	HSMMtube	muscle
28	chr13:40025800-40027400	Enhancers	Fetal Muscle Leg	muscle
29	chr13:40026000-40027400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr13:40026000-40027400	Enhancers	Psoas Muscle	Psoas
31	chr13:40026000-40028200	Enhancers	Ovary	ovary
32	chr13:40026200-40027000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr13:40026200-40027000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr13:40026200-40027000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr13:40026200-40027000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr13:40026200-40027200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr13:40026200-40027200	Enhancers	Primary B cells from peripheral blood	blood
38	chr13:40026200-40027400	Enhancers	Brain Substantia Nigra	brain
39	chr13:40026400-40027000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr13:40026400-40027000	Flanking Active TSS	Rectal Smooth Muscle	rectum
41	chr13:40026400-40027000	Enhancers	NHLF	lung
42	chr13:40026400-40027200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr13:40026400-40027200	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr13:40026400-40027200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr13:40026400-40027200	Enhancers	Brain Angular Gyrus	brain
46	chr13:40026400-40027200	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr13:40026400-40027200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr13:40026400-40027400	Enhancers	Fetal Stomach	stomach
49	chr13:40026400-40027400	Enhancers	Stomach Smooth Muscle	stomach
50	chr13:40026400-40027600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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