Variant report

Variant	rs12270893
Chromosome Location	chr11:102287721-102287722
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10082693	1.00[AMR][1000 genomes]
rs10466639	1.00[AMR][1000 genomes]
rs11225217	1.00[YRI][hapmap]
rs11225219	1.00[AMR][1000 genomes]
rs11225223	1.00[AMR][1000 genomes]
rs11225228	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11225245	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11225246	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11604189	1.00[YRI][hapmap]
rs12270723	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12271569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12273819	1.00[AMR][1000 genomes]
rs12275349	1.00[YRI][hapmap]
rs12278619	1.00[AMR][1000 genomes]
rs12279712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279854	1.00[AMR][1000 genomes]
rs12281328	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12282509	1.00[YRI][hapmap]
rs12283520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283923	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12288938	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12290870	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291114	1.00[YRI][hapmap]
rs12291210	1.00[YRI][hapmap]
rs12291456	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12293263	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12293834	1.00[YRI][hapmap]
rs12294170	1.00[AMR][1000 genomes]
rs12295864	1.00[AMR][1000 genomes]
rs12296030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12792649	1.00[YRI][hapmap]
rs13377309	1.00[AMR][1000 genomes]
rs13377312	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17097648	0.83[YRI][hapmap]
rs36039928	1.00[AMR][1000 genomes]
rs9971623	1.00[YRI][hapmap];1.00[AMR][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	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers 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 target site	13 gene(s)	inside rSNPs	diseases
3	nsv1035567	chr11:102264516-102431607	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv898334	chr11:102272884-102353192	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102265000-102287800	Weak transcription	Psoas Muscle	Psoas
2	chr11:102265000-102290800	Weak transcription	Small Intestine	intestine
3	chr11:102273000-102288000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:102273000-102302400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:102273200-102289800	Weak transcription	NHEK	skin
6	chr11:102273200-102292400	Weak transcription	HUVEC	blood vessel
7	chr11:102273200-102300800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:102274400-102289600	Weak transcription	HMEC	breast
9	chr11:102274400-102294000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr11:102275000-102290600	Weak transcription	Fetal Intestine Large	intestine
11	chr11:102277200-102297000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr11:102278200-102289600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:102278600-102300600	Weak transcription	Esophagus	oesophagus
14	chr11:102281400-102287800	Weak transcription	Primary B cells from cord blood	blood
15	chr11:102281400-102293600	Weak transcription	Fetal Stomach	stomach
16	chr11:102281400-102296400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:102281400-102296600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr11:102281400-102297600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr11:102281600-102289400	Weak transcription	Dnd41	blood
20	chr11:102281600-102290200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:102281600-102291000	Weak transcription	Brain Angular Gyrus	brain
22	chr11:102281600-102291200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:102281600-102291400	Weak transcription	HSMMtube	muscle
24	chr11:102281600-102293800	Weak transcription	Fetal Heart	heart
25	chr11:102281600-102295200	Weak transcription	Gastric	stomach
26	chr11:102281600-102300000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr11:102281800-102288400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:102281800-102298000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr11:102282200-102303400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:102282800-102289600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:102282800-102291200	Weak transcription	K562	blood
32	chr11:102282800-102293600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr11:102283000-102288000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:102283000-102300600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:102283200-102290800	Weak transcription	HSMM	muscle
36	chr11:102283200-102294000	Weak transcription	Left Ventricle	heart
37	chr11:102283200-102300400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:102284400-102290800	Weak transcription	Pancreas	Pancrea
39	chr11:102284400-102291400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:102284400-102299600	Weak transcription	Right Atrium	heart
41	chr11:102284400-102302200	Weak transcription	Aorta	Aorta
42	chr11:102284600-102291600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr11:102284600-102308600	Weak transcription	Lung	lung
44	chr11:102285600-102288200	Enhancers	Primary B cells from peripheral blood	blood
45	chr11:102285600-102288400	Enhancers	HepG2	liver
46	chr11:102285800-102288200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr11:102286000-102287800	Weak transcription	Thymus	Thymus
48	chr11:102286200-102289800	Weak transcription	Brain Hippocampus Middle	brain
49	chr11:102286200-102290400	Weak transcription	Colon Smooth Muscle	Colon
50	chr11:102286200-102293400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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