Variant report

Variant	rs3899318
Chromosome Location	chr13:111055150-111055151
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11619427	0.82[CHD][hapmap]
rs1927343	1.00[ASW][hapmap];0.91[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1927344	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1927345	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1927346	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1927347	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1927349	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35843316	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4492912	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4547215	1.00[ASW][hapmap];0.91[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.95[LWK][hapmap];0.93[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4771675	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7321362	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7326145	0.85[CHD][hapmap];0.83[TSI][hapmap]
rs7982993	0.91[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7990844	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9515204	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9521740	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]
rs9521742	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9521744	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9521746	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]
rs9521747	0.80[EUR][1000 genomes]
rs9521748	0.81[CHD][hapmap];0.81[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	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:64 , 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	chr13:111045600-111058200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr13:111045600-111059400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr13:111049000-111059600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr13:111050200-111064400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:111050200-111066000	Enhancers	NHDF-Ad	bronchial
12	chr13:111050200-111075200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:111050400-111055200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:111050400-111056200	Enhancers	HSMM	muscle
15	chr13:111050400-111057200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:111050400-111060400	Enhancers	HSMMtube	muscle
17	chr13:111050800-111059600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr13:111051400-111059400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:111051600-111055200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr13:111051600-111055400	Weak transcription	HMEC	breast
21	chr13:111051600-111060000	Weak transcription	Gastric	stomach
22	chr13:111051800-111059600	Weak transcription	Aorta	Aorta
23	chr13:111052000-111059600	Weak transcription	Brain Hippocampus Middle	brain
24	chr13:111052200-111055200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr13:111052200-111057800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr13:111052200-111058000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr13:111052200-111059400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr13:111052200-111063400	Weak transcription	Psoas Muscle	Psoas
29	chr13:111052600-111056800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr13:111053000-111063600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr13:111053600-111058000	Weak transcription	Fetal Kidney	kidney
32	chr13:111053600-111058200	Weak transcription	Fetal Lung	lung
33	chr13:111053800-111057000	Weak transcription	Adipose Nuclei	Adipose
34	chr13:111054000-111055400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr13:111054000-111057000	Weak transcription	Fetal Heart	heart
36	chr13:111054200-111055400	Enhancers	Left Ventricle	heart
37	chr13:111054200-111056200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr13:111054200-111056600	Strong transcription	Fetal Stomach	stomach
39	chr13:111054200-111056800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr13:111054200-111057000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr13:111054200-111057000	Genic enhancers	Osteobl	bone
42	chr13:111054600-111055400	Genic enhancers	Fetal Muscle Leg	muscle
43	chr13:111054600-111055600	Enhancers	HUVEC	blood vessel
44	chr13:111054600-111058600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr13:111054600-111061200	Enhancers	NH-A	brain
46	chr13:111054800-111055200	Enhancers	Ovary	ovary
47	chr13:111054800-111055400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr13:111054800-111055400	Genic enhancers	Fetal Muscle Trunk	muscle
49	chr13:111054800-111055400	Enhancers	Placenta	Placenta
50	chr13:111054800-111055400	Enhancers	Right Ventricle	heart

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