Variant report

Variant	rs9521740
Chromosome Location	chr13:111051559-111051560
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11619425	0.86[CHB][hapmap];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11619427	0.87[CHB][hapmap];0.83[AMR][1000 genomes]
rs11619430	0.83[AMR][1000 genomes]
rs1927343	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927344	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927345	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927346	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927347	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927349	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35843316	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3899318	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4492912	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4547215	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4771675	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4771676	0.83[AMR][1000 genomes]
rs7321362	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7326145	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs7982993	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7990844	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9301454	0.82[ASN][1000 genomes]
rs9515204	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9521742	0.90[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9521744	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9521746	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9521747	0.87[CHB][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9521748	0.87[CHB][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9559788	0.83[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][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	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv2751128	chr13:111040798-111132490	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111040800-111058000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:111041400-111058000	Weak transcription	Fetal Intestine Large	intestine
3	chr13:111043000-111057000	Weak transcription	NHEK	skin
4	chr13:111043000-111059200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:111043000-111060000	Weak transcription	A549	lung
6	chr13:111045200-111056800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr13:111045600-111054200	Weak transcription	Spleen	Spleen
8	chr13:111045600-111054600	Weak transcription	HUVEC	blood vessel
9	chr13:111045600-111058200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr13:111045600-111059400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr13:111046800-111051600	Enhancers	Left Ventricle	heart
12	chr13:111048200-111052200	Enhancers	Fetal Muscle Leg	muscle
13	chr13:111048400-111052400	Enhancers	Fetal Heart	heart
14	chr13:111049000-111059600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr13:111049200-111054800	Weak transcription	Fetal Intestine Small	intestine
16	chr13:111049600-111054800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr13:111050000-111051600	Enhancers	NH-A	brain
18	chr13:111050000-111052200	Enhancers	Placenta	Placenta
19	chr13:111050200-111051800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr13:111050200-111052200	Enhancers	Ovary	ovary
21	chr13:111050200-111052200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr13:111050200-111052600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr13:111050200-111053600	Enhancers	Fetal Stomach	stomach
24	chr13:111050200-111053800	Enhancers	Adipose Nuclei	Adipose
25	chr13:111050200-111054200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr13:111050200-111054200	Enhancers	Osteobl	bone
27	chr13:111050200-111054400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr13:111050200-111054800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr13:111050200-111054800	Weak transcription	Right Atrium	heart
30	chr13:111050200-111055000	Weak transcription	Lung	lung
31	chr13:111050200-111064400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr13:111050200-111066000	Enhancers	NHDF-Ad	bronchial
33	chr13:111050200-111075200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:111050400-111051600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr13:111050400-111052200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr13:111050400-111052400	Enhancers	Stomach Smooth Muscle	stomach
37	chr13:111050400-111052600	Enhancers	Rectal Smooth Muscle	rectum
38	chr13:111050400-111053200	Weak transcription	Fetal Kidney	kidney
39	chr13:111050400-111053600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr13:111050400-111054000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr13:111050400-111054200	Enhancers	Colon Smooth Muscle	Colon
42	chr13:111050400-111055000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr13:111050400-111055200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr13:111050400-111056200	Enhancers	HSMM	muscle
45	chr13:111050400-111057200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr13:111050400-111060400	Enhancers	HSMMtube	muscle
47	chr13:111050600-111051800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr13:111050600-111051800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr13:111050600-111053600	Enhancers	NHLF	lung
50	chr13:111050800-111051600	Weak transcription	Right Ventricle	heart

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