Variant report

Variant	rs11225246
Chromosome Location	chr11:102280731-102280732
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:102279177..102281049-chr11:102324433..102326986,2	K562	blood:

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];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11225245	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11604189	1.00[YRI][hapmap]
rs12270723	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270893	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12271569	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12273819	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12275349	1.00[YRI][hapmap]
rs12278619	1.00[AMR][1000 genomes]
rs12279712	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279854	1.00[AMR][1000 genomes]
rs12281328	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12282509	1.00[YRI][hapmap]
rs12283520	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283923	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12288938	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290870	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291114	1.00[YRI][hapmap]
rs12291210	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs12291456	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12293263	1.00[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	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12792649	1.00[YRI][hapmap]
rs13377309	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377312	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17097648	0.83[YRI][hapmap]
rs36039928	0.84[AFR][1000 genomes];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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102220000-102283000	Weak transcription	Hela-S3	cervix
2	chr11:102246200-102281000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:102246200-102281000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:102246200-102281000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:102261800-102281000	Weak transcription	K562	blood
6	chr11:102264600-102281400	Weak transcription	Right Ventricle	heart
7	chr11:102265000-102287800	Weak transcription	Psoas Muscle	Psoas
8	chr11:102265000-102290800	Weak transcription	Small Intestine	intestine
9	chr11:102265400-102281000	Weak transcription	Pancreas	Pancrea
10	chr11:102266000-102281000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:102270200-102281000	Weak transcription	A549	lung
12	chr11:102271800-102281200	Weak transcription	Fetal Brain Female	brain
13	chr11:102272800-102281200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:102272800-102282000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr11:102273000-102281000	Weak transcription	Left Ventricle	heart
16	chr11:102273000-102282000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:102273000-102288000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr11:102273000-102302400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:102273200-102280800	Weak transcription	Fetal Heart	heart
20	chr11:102273200-102289800	Weak transcription	NHEK	skin
21	chr11:102273200-102292400	Weak transcription	HUVEC	blood vessel
22	chr11:102273200-102300800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:102273600-102280800	Weak transcription	NHDF-Ad	bronchial
24	chr11:102273600-102281400	Weak transcription	NH-A	brain
25	chr11:102274200-102281200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr11:102274200-102282800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:102274400-102289600	Weak transcription	HMEC	breast
28	chr11:102274400-102294000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr11:102274800-102281000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr11:102274800-102281200	Weak transcription	Placenta	Placenta
31	chr11:102275000-102290600	Weak transcription	Fetal Intestine Large	intestine
32	chr11:102276200-102281400	Strong transcription	Primary B cells from cord blood	blood
33	chr11:102276400-102281400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr11:102277000-102280800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:102277200-102280800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:102277200-102281000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr11:102277200-102281200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:102277200-102284200	Weak transcription	Aorta	Aorta
39	chr11:102277200-102284200	Weak transcription	Lung	lung
40	chr11:102277200-102284200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr11:102277200-102285600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr11:102277200-102297000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr11:102277400-102281200	Weak transcription	Fetal Lung	lung
44	chr11:102277400-102281400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:102277400-102283200	Weak transcription	Adipose Nuclei	Adipose
46	chr11:102278000-102281000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:102278000-102281000	Weak transcription	Gastric	stomach
48	chr11:102278000-102281600	Strong transcription	Dnd41	blood
49	chr11:102278000-102284200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:102278200-102281000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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