Variant report

Variant	rs9521746
Chromosome Location	chr13:111057831-111057832
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11619425	0.86[CHB][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11619427	0.87[CHB][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11619430	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1927343	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1927344	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1927345	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1927346	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1927347	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1927349	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35843316	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3899318	0.91[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];0.90[YRI][hapmap];0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4492912	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4547215	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4771675	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4771676	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7321362	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7326145	0.82[CHB][hapmap]
rs7982993	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7990844	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9284253	0.81[EUR][1000 genomes]
rs9301454	0.81[EUR][1000 genomes]
rs9515204	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9521740	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]
rs9521742	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9521744	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9521747	0.87[CHB][hapmap];0.84[EUR][1000 genomes]
rs9521748	0.87[CHB][hapmap];0.81[AMR][1000 genomes]
rs9559788	0.83[CHB][hapmap];0.83[JPT][hapmap]

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	chr13:111043000-111059200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:111043000-111060000	Weak transcription	A549	lung
5	chr13:111045600-111058200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr13:111045600-111059400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr13:111049000-111059600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr13:111050200-111064400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:111050200-111066000	Enhancers	NHDF-Ad	bronchial
10	chr13:111050200-111075200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:111050400-111060400	Enhancers	HSMMtube	muscle
12	chr13:111050800-111059600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr13:111051400-111059400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr13:111051600-111060000	Weak transcription	Gastric	stomach
15	chr13:111051800-111059600	Weak transcription	Aorta	Aorta
16	chr13:111052000-111059600	Weak transcription	Brain Hippocampus Middle	brain
17	chr13:111052200-111058000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr13:111052200-111059400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr13:111052200-111063400	Weak transcription	Psoas Muscle	Psoas
20	chr13:111053000-111063600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr13:111053600-111058000	Weak transcription	Fetal Kidney	kidney
22	chr13:111053600-111058200	Weak transcription	Fetal Lung	lung
23	chr13:111054600-111058600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr13:111054600-111061200	Enhancers	NH-A	brain
25	chr13:111054800-111060200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr13:111054800-111060400	Enhancers	NHLF	lung
27	chr13:111055000-111058600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr13:111055200-111059600	Weak transcription	Ovary	ovary
29	chr13:111055400-111059400	Weak transcription	Spleen	Spleen
30	chr13:111055400-111059600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr13:111055400-111059800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr13:111055600-111058000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr13:111055600-111058200	Weak transcription	Fetal Intestine Small	intestine
34	chr13:111056000-111059600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr13:111056200-111059200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr13:111056200-111060800	Enhancers	Left Ventricle	heart
37	chr13:111056200-111066000	Enhancers	Lung	lung
38	chr13:111056400-111058000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr13:111056400-111058000	Genic enhancers	Fetal Muscle Leg	muscle
40	chr13:111056400-111058000	Weak transcription	HUVEC	blood vessel
41	chr13:111056400-111058400	Enhancers	Stomach Smooth Muscle	stomach
42	chr13:111056400-111060400	Enhancers	Colon Smooth Muscle	Colon
43	chr13:111056600-111059600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr13:111056800-111058200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr13:111056800-111058600	Enhancers	HSMM	muscle
46	chr13:111056800-111060200	Enhancers	Rectal Smooth Muscle	rectum
47	chr13:111057000-111058200	Enhancers	Osteobl	bone
48	chr13:111057000-111059400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr13:111057000-111059400	Enhancers	Fetal Stomach	stomach
50	chr13:111057000-111061200	Enhancers	Fetal Heart	heart

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