Variant report

Variant	rs665424
Chromosome Location	chr11:100703757-100703758
allele	G/T
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: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10488786	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11224490	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11224491	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11224492	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11224493	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11224494	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11224495	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs517349	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs551860	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs561267	0.98[ASN][1000 genomes]
rs581773	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59410492	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs599651	0.82[ASN][1000 genomes]
rs61890806	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61890815	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61890817	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61890819	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61890820	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61890821	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61890822	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61890823	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs619043	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs619191	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs633021	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs646865	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs660410	0.95[EUR][1000 genomes]
rs675486	0.82[ASN][1000 genomes]
rs679012	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7115233	0.80[ASN][1000 genomes]
rs7342248	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73571624	0.93[AMR][1000 genomes];0.90[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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100688000-100704000	Weak transcription	Right Ventricle	heart
2	chr11:100696800-100704200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:100698200-100704600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr11:100698800-100712400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:100699600-100722400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:100700000-100704800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:100700800-100704200	Enhancers	Fetal Heart	heart
8	chr11:100700800-100704800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:100701000-100703800	Enhancers	Fetal Muscle Leg	muscle
10	chr11:100701000-100703800	Enhancers	Left Ventricle	heart
11	chr11:100701000-100704000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr11:100701000-100704400	Enhancers	Hela-S3	cervix
13	chr11:100701000-100704600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:100701000-100704600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr11:100701000-100704600	Enhancers	Adipose Nuclei	Adipose
16	chr11:100701000-100705400	Enhancers	HSMM	muscle
17	chr11:100701200-100703800	Enhancers	NHLF	lung
18	chr11:100701200-100704600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:100701200-100704600	Enhancers	NHDF-Ad	bronchial
20	chr11:100701400-100703800	Enhancers	Placenta	Placenta
21	chr11:100701400-100704400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:100701400-100704400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:100701400-100704400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr11:100701400-100704600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr11:100701400-100704600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:100701400-100704600	Enhancers	HMEC	breast
27	chr11:100701600-100703800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr11:100701600-100705400	Enhancers	HSMMtube	muscle
29	chr11:100701600-100708200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr11:100701600-100717000	Weak transcription	Fetal Kidney	kidney
31	chr11:100701800-100704400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:100702000-100704000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:100702000-100704200	Weak transcription	Brain Substantia Nigra	brain
34	chr11:100702000-100704200	Weak transcription	Right Atrium	heart
35	chr11:100702000-100706600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr11:100702200-100703800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:100702200-100704600	Enhancers	NHEK	skin
38	chr11:100702400-100704400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr11:100702600-100703800	Weak transcription	Stomach Mucosa	stomach
40	chr11:100702600-100704800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:100702800-100705400	Enhancers	A549	lung
42	chr11:100702800-100707000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:100703000-100704000	Weak transcription	Brain Anterior Caudate	brain
44	chr11:100703000-100704200	Weak transcription	Brain Hippocampus Middle	brain
45	chr11:100703000-100705200	Weak transcription	Psoas Muscle	Psoas
46	chr11:100703000-100706200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:100703000-100706800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr11:100703000-100707400	Weak transcription	NH-A	brain
49	chr11:100703000-100707600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr11:100703000-100710800	Weak transcription	H1 Cell Line	embryonic stem cell

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