Variant report

Variant	rs529751
Chromosome Location	chr11:100702759-100702760
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:100702367..100705354-chr11:100707179..100710105,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10750596	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11224453	1.00[JPT][hapmap]
rs1145429	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1943501	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs513429	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs545547	1.00[JPT][hapmap]
rs550024	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs556823	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs590834	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs614686	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs623540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs629425	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs629864	1.00[ASN][1000 genomes]
rs637127	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs639926	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs658899	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs661758	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs667504	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs682031	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs683072	0.80[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100686200-100702800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr11:100688000-100704000	Weak transcription	Right Ventricle	heart
3	chr11:100696200-100703000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:100696800-100704200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:100698200-100704600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr11:100698400-100702800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:100698600-100702800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:100698800-100712400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:100699000-100702800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:100699000-100703400	Weak transcription	Fetal Intestine Small	intestine
11	chr11:100699600-100722400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:100700000-100704800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:100700800-100703000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr11:100700800-100704200	Enhancers	Fetal Heart	heart
15	chr11:100700800-100704800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:100701000-100703000	Enhancers	NH-A	brain
17	chr11:100701000-100703200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr11:100701000-100703200	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr11:100701000-100703400	Enhancers	Osteobl	bone
20	chr11:100701000-100703800	Enhancers	Fetal Muscle Leg	muscle
21	chr11:100701000-100703800	Enhancers	Left Ventricle	heart
22	chr11:100701000-100704000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr11:100701000-100704400	Enhancers	Hela-S3	cervix
24	chr11:100701000-100704600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:100701000-100704600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr11:100701000-100704600	Enhancers	Adipose Nuclei	Adipose
27	chr11:100701000-100705400	Enhancers	HSMM	muscle
28	chr11:100701200-100702800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:100701200-100702800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:100701200-100703000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr11:100701200-100703400	Enhancers	Liver	Liver
32	chr11:100701200-100703800	Enhancers	NHLF	lung
33	chr11:100701200-100704600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:100701200-100704600	Enhancers	NHDF-Ad	bronchial
35	chr11:100701400-100703000	Enhancers	Fetal Stomach	stomach
36	chr11:100701400-100703200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:100701400-100703800	Enhancers	Placenta	Placenta
38	chr11:100701400-100704400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:100701400-100704400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:100701400-100704400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr11:100701400-100704600	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr11:100701400-100704600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:100701400-100704600	Enhancers	HMEC	breast
44	chr11:100701600-100703800	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr11:100701600-100705400	Enhancers	HSMMtube	muscle
46	chr11:100701600-100708200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr11:100701600-100717000	Weak transcription	Fetal Kidney	kidney
48	chr11:100701800-100702800	Weak transcription	Brain Anterior Caudate	brain
49	chr11:100701800-100702800	Flanking Active TSS	A549	lung
50	chr11:100701800-100703000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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