Variant report

Variant	rs12218
Chromosome Location	chr11:18291321-18291322
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:18290470..18292200-chr11:18295403..18297523,2	K562	blood:
2	chr11:18290700..18293627-chr11:18295219..18297523,2	K562	blood:
3	chr11:18280479..18282742-chr11:18290533..18293287,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10766465	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10832915	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10832916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024598	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1136743	0.85[ASN][1000 genomes]
rs2045272	0.84[CEU][hapmap]
rs2124379	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2271997	0.83[CEU][hapmap]
rs3781945	0.83[CEU][hapmap]
rs7128060	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv428569	chr11:18194030-18350869	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18278400-18293200	Weak transcription	Aorta	Aorta
2	chr11:18283600-18301600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:18285200-18303200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:18285400-18300600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:18285600-18308400	Weak transcription	Gastric	stomach
6	chr11:18285800-18298800	Weak transcription	HSMMtube	muscle
7	chr11:18287400-18303000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:18287600-18298600	Weak transcription	Liver	Liver
9	chr11:18287600-18299200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:18287600-18303000	Weak transcription	Spleen	Spleen
11	chr11:18287600-18334000	Weak transcription	Right Atrium	heart
12	chr11:18287800-18293600	Weak transcription	Lung	lung
13	chr11:18287800-18297000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:18287800-18298800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:18287800-18300800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:18287800-18301000	Weak transcription	HSMM	muscle
17	chr11:18289600-18296600	Weak transcription	Fetal Stomach	stomach
18	chr11:18289600-18299200	Weak transcription	HMEC	breast
19	chr11:18289800-18296800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:18290000-18296800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:18290000-18298800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:18290000-18299000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:18290000-18300200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:18290000-18300200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr11:18290000-18300600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr11:18290000-18303200	Weak transcription	NHEK	skin
27	chr11:18290000-18303400	Weak transcription	Small Intestine	intestine
28	chr11:18290200-18291600	Enhancers	GM12878-XiMat	blood
29	chr11:18290200-18299600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr11:18290200-18300000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr11:18290200-18300200	Weak transcription	Adipose Nuclei	Adipose
32	chr11:18290200-18300800	Weak transcription	Hela-S3	cervix
33	chr11:18290200-18301200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr11:18290800-18298000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:18291000-18291800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
36	chr11:18291200-18291600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:18291200-18291600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:18291200-18292000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr11:18291200-18292800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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