Variant report

Variant	rs633021
Chromosome Location	chr11:100722987-100722988
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	chr11:100721964..100724850-chr11:100725168..100727947,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10488786	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11224490	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11224491	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11224492	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11224493	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11224494	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11224495	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12808052	0.95[ASN][1000 genomes]
rs517349	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs551860	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs561267	0.89[CHB][hapmap];0.95[CHD][hapmap];0.83[ASN][1000 genomes]
rs581773	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59410492	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs599651	0.99[ASN][1000 genomes]
rs61890806	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61890815	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61890817	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61890819	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61890820	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61890821	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61890822	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61890823	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs619043	1.00[CEU][hapmap];0.87[CHB][hapmap];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs619191	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs646865	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs655175	0.95[LWK][hapmap]
rs660410	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs665424	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs675486	0.99[ASN][1000 genomes]
rs679012	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7115233	0.97[ASN][1000 genomes]
rs7342248	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73571624	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048356	chr11:100713096-101058995	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv541154	chr11:100713096-101058995	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv468849	chr11:100713227-100733120	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv556129	chr11:100713227-100733120	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100703000-100731800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:100716800-100727000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:100720200-100745000	Weak transcription	Fetal Muscle Leg	muscle
4	chr11:100720600-100726400	Weak transcription	Adipose Nuclei	Adipose
5	chr11:100720600-100728000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:100720600-100733400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:100720800-100726000	Weak transcription	Fetal Kidney	kidney
8	chr11:100721000-100723400	Weak transcription	Stomach Mucosa	stomach
9	chr11:100721000-100725800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:100721000-100726000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:100721000-100726000	Weak transcription	Osteobl	bone
12	chr11:100721000-100730800	Weak transcription	Fetal Intestine Small	intestine
13	chr11:100721200-100726000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:100721600-100723400	Enhancers	Placenta	Placenta
15	chr11:100721600-100733400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr11:100722200-100726200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:100722200-100734000	Weak transcription	Fetal Stomach	stomach
18	chr11:100722400-100723600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:100722400-100723800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:100722600-100723400	Enhancers	Liver	Liver
21	chr11:100722600-100725800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr11:100722600-100733800	Weak transcription	NHDF-Ad	bronchial
23	chr11:100722800-100725200	Weak transcription	A549	lung
24	chr11:100722800-100725400	Weak transcription	Fetal Heart	heart
25	chr11:100722800-100728200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr11:100722800-100746400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr11:100722800-100747200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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