Variant report

Variant	rs12284698
Chromosome Location	chr11:58962967-58962968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10896948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896949	0.91[AFR][1000 genomes]
rs10896950	0.91[AFR][1000 genomes]
rs10896951	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896954	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11229825	1.00[CEU][hapmap]
rs11229835	1.00[CEU][hapmap]
rs11229836	1.00[CEU][hapmap]
rs11229841	1.00[CEU][hapmap]
rs11229845	1.00[CEU][hapmap]
rs11229847	1.00[CEU][hapmap]
rs11229853	1.00[CEU][hapmap]
rs11229871	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229876	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229878	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11229888	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11229889	0.86[ASW][hapmap]
rs11229890	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11229891	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11229892	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11229893	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11229894	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11229905	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12221768	1.00[CEU][hapmap]
rs12222675	1.00[CEU][hapmap]
rs12223085	1.00[CEU][hapmap]
rs12223473	1.00[CEU][hapmap]
rs12225328	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12225532	1.00[CEU][hapmap]
rs12225972	1.00[CEU][hapmap]
rs12226710	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275799	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12284370	0.87[AFR][1000 genomes]
rs7951382	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv2758272	chr11:58700092-59008673	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2759830	chr11:58700092-59008673	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1821250	chr11:58925860-59059179	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58941600-58964000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:58943600-58975400	Weak transcription	NHEK	skin
3	chr11:58949400-58973400	Weak transcription	Right Ventricle	heart
4	chr11:58950000-58978400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:58950400-58972200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:58954200-58963400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr11:58954200-58964000	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr11:58954400-58965200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:58954600-58963000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:58954600-58966200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:58954800-58963800	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr11:58955000-58963000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:58955000-58967200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:58955200-58963000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr11:58955200-58965400	Strong transcription	Fetal Brain Female	brain
16	chr11:58955400-58963600	Strong transcription	Primary B cells from cord blood	blood
17	chr11:58955400-58966000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:58955400-58966000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:58955400-58970800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:58955600-58964800	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:58955600-58965400	Strong transcription	Fetal Muscle Trunk	muscle
22	chr11:58955600-58965800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:58955800-58964000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr11:58956000-58965200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr11:58956200-58963600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:58956200-58963800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr11:58956200-58965000	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr11:58956200-58965000	Strong transcription	Ovary	ovary
29	chr11:58956400-58964800	Strong transcription	Fetal Brain Male	brain
30	chr11:58956400-58965400	Weak transcription	Psoas Muscle	Psoas
31	chr11:58956400-58977400	Weak transcription	Hela-S3	cervix
32	chr11:58956600-58964600	Strong transcription	Brain Anterior Caudate	brain
33	chr11:58956800-58965200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:58957000-58964000	Strong transcription	HSMM	muscle
35	chr11:58957000-58967600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:58957400-58965400	Weak transcription	Left Ventricle	heart
37	chr11:58957600-58964800	Strong transcription	Fetal Muscle Leg	muscle
38	chr11:58957600-58964800	Strong transcription	Fetal Stomach	stomach
39	chr11:58957800-58964000	Strong transcription	HSMMtube	muscle
40	chr11:58958200-58963600	Strong transcription	Fetal Lung	lung
41	chr11:58958200-58964600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:58958600-58964800	Strong transcription	Fetal Kidney	kidney
43	chr11:58958600-58968400	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:58958800-58963000	Strong transcription	GM12878-XiMat	blood
45	chr11:58959000-58964400	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr11:58959000-58965200	Weak transcription	NHLF	lung
47	chr11:58959200-58964000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr11:58959200-58964600	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr11:58959200-58967600	Strong transcription	Duodenum Mucosa	Duodenum
50	chr11:58959400-58963000	Strong transcription	Esophagus	oesophagus

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