Variant report

Variant	rs523356
Chromosome Location	chr11:102247676-102247677
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:102247349..102249796-chr11:102259275..102261867,2	K562	blood:
2	chr11:102246464..102249796-chr11:102259406..102262797,3	K562	blood:
3	chr11:102246701..102248376-chr11:102249971..102251901,2	K562	blood:
4	chr11:102218092..102221862-chr11:102245057..102248069,3	K562	blood:
5	chr11:102247498..102250986-chr11:102255222..102258637,4	K562	blood:

Variant related genes	Relation type
ENSG00000110330	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1275852	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1298369	0.93[AFR][1000 genomes]
rs2509319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2509683	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs3903273	0.81[YRI][hapmap]
rs480608	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs516351	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs531350	1.00[MEX][hapmap]
rs655139	0.81[YRI][hapmap]
rs667755	0.82[CEU][hapmap]
rs670314	0.82[LWK][hapmap];1.00[MEX][hapmap];0.81[YRI][hapmap]
rs670334	1.00[MEX][hapmap]
rs7124969	0.86[YRI][hapmap]
rs7127583	0.81[YRI][hapmap]
rs7928663	0.88[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	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
5	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

No data

Chromatin state (count:127 , 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	chr11:102225600-102255400	Weak transcription	Fetal Heart	heart
3	chr11:102232400-102259600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:102232600-102255000	Weak transcription	Right Atrium	heart
5	chr11:102235600-102255000	Weak transcription	Right Ventricle	heart
6	chr11:102235800-102259600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:102236600-102249800	Weak transcription	Psoas Muscle	Psoas
8	chr11:102236600-102249800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr11:102237000-102248600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr11:102237000-102249600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:102237000-102255400	Weak transcription	Aorta	Aorta
12	chr11:102237000-102263800	Weak transcription	Small Intestine	intestine
13	chr11:102237200-102249200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr11:102237200-102249600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:102237600-102249600	Weak transcription	Colonic Mucosa	Colon
16	chr11:102239400-102248400	Weak transcription	Primary T cells from cord blood	blood
17	chr11:102239600-102248200	Weak transcription	Fetal Brain Female	brain
18	chr11:102239600-102248800	Weak transcription	NHLF	lung
19	chr11:102239600-102249600	Weak transcription	Brain Hippocampus Middle	brain
20	chr11:102239600-102249600	Weak transcription	Ovary	ovary
21	chr11:102239600-102250200	Weak transcription	Fetal Kidney	kidney
22	chr11:102239600-102259000	Weak transcription	Fetal Brain Male	brain
23	chr11:102239800-102248200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr11:102239800-102248600	Weak transcription	NH-A	brain
25	chr11:102239800-102249600	Weak transcription	Brain Germinal Matrix	brain
26	chr11:102239800-102249600	Weak transcription	HSMMtube	muscle
27	chr11:102239800-102250000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr11:102239800-102250000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr11:102239800-102254600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:102240000-102250200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:102245400-102278000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:102245600-102248000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:102245600-102252200	Strong transcription	Primary B cells from peripheral blood	blood
34	chr11:102245600-102252600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:102245600-102252800	Strong transcription	Duodenum Mucosa	Duodenum
36	chr11:102245600-102253000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr11:102245600-102253800	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr11:102245600-102255200	Strong transcription	Placenta	Placenta
39	chr11:102245600-102256600	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr11:102245600-102258600	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr11:102245600-102266200	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr11:102245600-102275600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:102245800-102247800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
44	chr11:102245800-102252600	Strong transcription	Fetal Lung	lung
45	chr11:102245800-102257200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:102245800-102260400	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr11:102245800-102260800	Strong transcription	HSMM	muscle
48	chr11:102245800-102275000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr11:102246000-102249600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:102246000-102253200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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