Variant report

Variant	rs517349
Chromosome Location	chr11:100699945-100699946
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10431109	1.00[AFR][1000 genomes]
rs10488786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11224400	1.00[AFR][1000 genomes]
rs11224402	1.00[AFR][1000 genomes]
rs11224407	1.00[AFR][1000 genomes]
rs11224408	1.00[AFR][1000 genomes]
rs11224411	1.00[AFR][1000 genomes]
rs11224430	1.00[AFR][1000 genomes]
rs11224442	1.00[AFR][1000 genomes]
rs11224443	1.00[AFR][1000 genomes]
rs11224445	1.00[AFR][1000 genomes]
rs11224446	1.00[AFR][1000 genomes]
rs11224457	1.00[AFR][1000 genomes]
rs11224467	1.00[AFR][1000 genomes]
rs11224471	1.00[AFR][1000 genomes]
rs11224490	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11224491	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11224492	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11224493	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11224494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11224495	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12221887	1.00[AFR][1000 genomes]
rs12223958	1.00[AFR][1000 genomes]
rs12225108	1.00[AFR][1000 genomes]
rs12226782	1.00[AFR][1000 genomes]
rs12808052	0.85[ASN][1000 genomes]
rs1502283	1.00[AFR][1000 genomes]
rs2897755	1.00[AFR][1000 genomes]
rs551860	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs561267	0.88[CHB][hapmap];0.91[ASN][1000 genomes]
rs581773	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59410492	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs599651	0.88[ASN][1000 genomes]
rs61890769	1.00[AFR][1000 genomes]
rs61890770	1.00[AFR][1000 genomes]
rs61890784	1.00[AFR][1000 genomes]
rs61890786	1.00[AFR][1000 genomes]
rs61890806	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61890815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61890817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61890819	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61890820	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61890821	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61890822	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61890823	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs619043	1.00[CEU][hapmap];0.94[CHB][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61910470	1.00[AFR][1000 genomes]
rs61910471	1.00[AFR][1000 genomes]
rs61910473	1.00[AFR][1000 genomes]
rs61910474	1.00[AFR][1000 genomes]
rs61910475	1.00[AFR][1000 genomes]
rs61910477	1.00[AFR][1000 genomes]
rs61910479	1.00[AFR][1000 genomes]
rs61910504	1.00[AFR][1000 genomes]
rs619191	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs633021	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs646865	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs660410	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs665424	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs675486	0.88[ASN][1000 genomes]
rs679012	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7115233	0.87[ASN][1000 genomes]
rs7342248	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73571624	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100681400-100701000	Weak transcription	HSMM	muscle
2	chr11:100686200-100702800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:100688000-100704000	Weak transcription	Right Ventricle	heart
4	chr11:100694400-100701000	Weak transcription	HSMMtube	muscle
5	chr11:100695000-100701000	Weak transcription	Psoas Muscle	Psoas
6	chr11:100696200-100703000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:100696800-100701000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:100696800-100701000	Weak transcription	Brain Anterior Caudate	brain
9	chr11:100696800-100701000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr11:100696800-100701200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:100696800-100701200	Weak transcription	NHDF-Ad	bronchial
12	chr11:100696800-100704200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:100697000-100701400	Weak transcription	Colon Smooth Muscle	Colon
14	chr11:100697000-100701400	Weak transcription	Fetal Stomach	stomach
15	chr11:100697200-100701000	Weak transcription	Fetal Kidney	kidney
16	chr11:100697200-100701400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:100697800-100700200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:100698200-100701200	Weak transcription	Right Atrium	heart
19	chr11:100698200-100704600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr11:100698400-100701000	Weak transcription	Left Ventricle	heart
21	chr11:100698400-100701400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:100698400-100702800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:100698600-100701000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr11:100698600-100701400	Weak transcription	Placenta	Placenta
25	chr11:100698600-100702800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:100698800-100701000	Weak transcription	Fetal Muscle Leg	muscle
27	chr11:100698800-100701400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:100698800-100712400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr11:100699000-100700800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr11:100699000-100701000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr11:100699000-100701200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:100699000-100701200	Weak transcription	NHLF	lung
33	chr11:100699000-100701400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:100699000-100701800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:100699000-100702800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:100699000-100703400	Weak transcription	Fetal Intestine Small	intestine
37	chr11:100699200-100700800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:100699200-100700800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:100699200-100700800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr11:100699200-100701000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr11:100699200-100701000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr11:100699200-100701000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr11:100699200-100701000	Weak transcription	Adipose Nuclei	Adipose
44	chr11:100699200-100701000	Weak transcription	NHEK	skin
45	chr11:100699200-100701200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr11:100699200-100701200	Weak transcription	Stomach Mucosa	stomach
47	chr11:100699200-100701400	Weak transcription	HMEC	breast
48	chr11:100699200-100701800	Weak transcription	HUVEC	blood vessel
49	chr11:100699200-100702600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:100699400-100701000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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