Variant report

Variant	rs7998182
Chromosome Location	chr13:40023910-40023911
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1040962	0.85[CEU][hapmap]
rs2011719	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2012553	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2148933	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2182780	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2182781	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4340189	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4456371	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4499118	0.83[AMR][1000 genomes]
rs4569130	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]
rs4941928	0.86[CEU][hapmap]
rs4943666	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6563706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6563707	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6563708	0.93[CEU][hapmap];0.92[JPT][hapmap]
rs6563710	0.92[JPT][hapmap]
rs7319652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7322023	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7326279	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7330999	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7334760	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs7337916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs737645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7983763	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7985325	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7996782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8000420	1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9315688	0.83[AMR][1000 genomes]
rs943568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9532382	0.86[CEU][hapmap]
rs9532383	0.92[CEU][hapmap];1.00[JPT][hapmap]
rs9548779	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs9566446	0.92[CEU][hapmap]
rs9576805	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9576807	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9576810	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9576811	0.83[AMR][1000 genomes]
rs9576812	0.82[AMR][1000 genomes]
rs9603544	0.85[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40013400-40026200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:40017600-40026200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr13:40020800-40026200	Weak transcription	Lung	lung
4	chr13:40021800-40027800	Enhancers	Fetal Heart	heart
5	chr13:40022000-40029200	Weak transcription	Spleen	Spleen
6	chr13:40022400-40025200	Weak transcription	Fetal Muscle Leg	muscle
7	chr13:40022400-40026000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr13:40022600-40025400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr13:40022800-40024200	Enhancers	Brain Cingulate Gyrus	brain
10	chr13:40023000-40024000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr13:40023000-40024600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:40023000-40024800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr13:40023000-40025200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr13:40023000-40028000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr13:40023200-40024600	Weak transcription	Colon Smooth Muscle	Colon
16	chr13:40023200-40024800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr13:40023200-40025600	Weak transcription	NHDF-Ad	bronchial
18	chr13:40023200-40026400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr13:40023400-40024600	Weak transcription	Adipose Nuclei	Adipose
20	chr13:40023400-40024600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr13:40023400-40025000	Weak transcription	Brain Anterior Caudate	brain
22	chr13:40023400-40025200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr13:40023400-40025200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr13:40023400-40025600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr13:40023400-40025600	Weak transcription	Fetal Lung	lung
26	chr13:40023400-40025800	Weak transcription	HSMMtube	muscle
27	chr13:40023400-40026000	Weak transcription	Ovary	ovary
28	chr13:40023400-40026000	Weak transcription	Psoas Muscle	Psoas
29	chr13:40023400-40026200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:40023400-40026200	Weak transcription	Right Atrium	heart
31	chr13:40023400-40026400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr13:40023400-40026400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr13:40023400-40026600	Weak transcription	Left Ventricle	heart
34	chr13:40023400-40026600	Weak transcription	Right Ventricle	heart
35	chr13:40023400-40035000	Weak transcription	Aorta	Aorta
36	chr13:40023600-40024000	Weak transcription	Brain Hippocampus Middle	brain
37	chr13:40023800-40024000	Enhancers	Rectal Smooth Muscle	rectum
38	chr13:40023800-40025600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr13:40023800-40026200	Weak transcription	Brain Substantia Nigra	brain
40	chr13:40023800-40026400	Weak transcription	Brain Angular Gyrus	brain

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