Variant report

Variant	rs12284238
Chromosome Location	chr11:102200142-102200143
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11225212	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11225213	0.85[YRI][hapmap]
rs11225214	0.85[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11225215	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11225216	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs11225217	1.00[AMR][1000 genomes]
rs12275676	0.85[YRI][hapmap];0.88[AFR][1000 genomes]
rs12282509	1.00[ASW][hapmap]
rs12285135	0.85[YRI][hapmap]
rs12288713	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12288787	0.87[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12294646	0.85[YRI][hapmap]
rs17097648	1.00[ASN][1000 genomes]
rs17883781	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7112261	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7930386	0.85[YRI][hapmap]
rs7937825	0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv556141	chr11:101988061-102207851	Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv556142	chr11:102192574-102202015	Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv3384244	chr11:102195350-102220898	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102188800-102216600	Weak transcription	HSMMtube	muscle
2	chr11:102189400-102205800	Weak transcription	Psoas Muscle	Psoas
3	chr11:102189400-102216600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr11:102189400-102216800	Weak transcription	Right Ventricle	heart
5	chr11:102189600-102200600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:102189600-102200800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:102189600-102200800	Weak transcription	Left Ventricle	heart
8	chr11:102190600-102202800	Weak transcription	Pancreas	Pancrea
9	chr11:102191200-102216800	Weak transcription	Aorta	Aorta
10	chr11:102191200-102217400	Weak transcription	Esophagus	oesophagus
11	chr11:102191600-102202600	Weak transcription	Stomach Mucosa	stomach
12	chr11:102191600-102216600	Weak transcription	Brain Anterior Caudate	brain
13	chr11:102191800-102200800	Weak transcription	Spleen	Spleen
14	chr11:102191800-102212600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:102193200-102203200	Weak transcription	Ovary	ovary
16	chr11:102194000-102204600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:102194200-102200800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr11:102194600-102212600	Weak transcription	Dnd41	blood
19	chr11:102194800-102209800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:102195000-102202800	Weak transcription	NH-A	brain
21	chr11:102195000-102210400	Weak transcription	HMEC	breast
22	chr11:102195400-102200800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:102195400-102200800	Weak transcription	Osteobl	bone
24	chr11:102195600-102200600	Weak transcription	NHDF-Ad	bronchial
25	chr11:102195600-102200800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:102195600-102204200	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr11:102195800-102200200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr11:102196000-102200600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr11:102196000-102200800	Weak transcription	HSMM	muscle
30	chr11:102196000-102202200	Weak transcription	NHEK	skin
31	chr11:102196000-102202800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr11:102196000-102212200	Weak transcription	Hela-S3	cervix
33	chr11:102196200-102201800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:102196200-102209200	Strong transcription	Liver	Liver
35	chr11:102196400-102202200	Weak transcription	Small Intestine	intestine
36	chr11:102196600-102209600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:102196800-102204000	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr11:102196800-102204200	Strong transcription	Fetal Thymus	thymus
39	chr11:102196800-102204800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:102197000-102203600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr11:102197000-102203600	Strong transcription	Duodenum Mucosa	Duodenum
42	chr11:102197000-102203800	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr11:102197000-102204000	Strong transcription	Stomach Smooth Muscle	stomach
44	chr11:102197000-102204800	Strong transcription	Primary T cells from cord blood	blood
45	chr11:102197000-102209800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:102197200-102200200	Strong transcription	Thymus	Thymus
47	chr11:102197200-102203400	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr11:102197200-102203600	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr11:102197400-102203200	Strong transcription	Rectal Smooth Muscle	rectum
50	chr11:102197600-102204200	Strong transcription	Primary T helper naive cells from peripheral blood	blood

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