Variant report

Variant	rs11229042
Chromosome Location	chr11:57252862-57252863
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:57251306..57253890-chr11:57276529..57278804,2	K562	blood:
2	chr11:57252167..57253878-chr11:57259128..57262069,2	K562	blood:
3	chr11:57244323..57249361-chr11:57249933..57253488,6	K562	blood:

Variant related genes	Relation type
ENSG00000149150	Chromatin interaction
ENSG00000255301	Chromatin interaction
ENSG00000251995	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10160419	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[TSI][hapmap]
rs11229044	0.82[EUR][1000 genomes]
rs12275916	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[TSI][hapmap]
rs4939146	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs4939147	0.82[EUR][1000 genomes]
rs58752761	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61886982	0.94[EUR][1000 genomes]
rs61886990	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6591429	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs72925922	0.90[EUR][1000 genomes]
rs7933797	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs7934626	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57250600-57259600	Strong transcription	Pancreas	Pancrea
2	chr11:57250800-57259600	Strong transcription	HepG2	liver
3	chr11:57250800-57266000	Weak transcription	Right Atrium	heart
4	chr11:57251000-57253000	Weak transcription	Colonic Mucosa	Colon
5	chr11:57251000-57254000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr11:57251000-57254600	Weak transcription	NHLF	lung
7	chr11:57251000-57254800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:57251000-57260600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:57251000-57261400	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:57251000-57266800	Weak transcription	HUVEC	blood vessel
11	chr11:57251000-57267400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:57251200-57254000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr11:57251200-57254600	Weak transcription	Psoas Muscle	Psoas
14	chr11:57251200-57254600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr11:57251200-57255200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:57251200-57255200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:57251200-57257600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr11:57251200-57259600	Strong transcription	Liver	Liver
19	chr11:57251200-57260800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:57251200-57260800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr11:57251200-57261000	Weak transcription	Brain Angular Gyrus	brain
22	chr11:57251200-57261000	Weak transcription	Dnd41	blood
23	chr11:57251200-57263800	Strong transcription	Ovary	ovary
24	chr11:57251200-57266800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:57251200-57266800	Weak transcription	HSMM	muscle
26	chr11:57251200-57280600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr11:57251400-57253600	Enhancers	Primary hematopoietic stem cells	blood
28	chr11:57251400-57253600	Strong transcription	Rectal Smooth Muscle	rectum
29	chr11:57251400-57254600	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr11:57251400-57255600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:57251400-57258200	Weak transcription	NHDF-Ad	bronchial
32	chr11:57251400-57261200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:57251400-57266000	Weak transcription	Brain Substantia Nigra	brain
34	chr11:57251400-57266200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:57251400-57266400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:57251400-57266800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:57251400-57279200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr11:57251400-57281200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:57251600-57253800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:57251600-57255800	Weak transcription	Fetal Heart	heart
41	chr11:57251600-57257000	Weak transcription	Fetal Lung	lung
42	chr11:57251600-57258800	Strong transcription	Adipose Nuclei	Adipose
43	chr11:57251600-57259600	Strong transcription	Fetal Intestine Small	intestine
44	chr11:57251600-57259800	Strong transcription	Stomach Smooth Muscle	stomach
45	chr11:57251600-57260800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr11:57251600-57266800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr11:57251800-57253200	Enhancers	Primary B cells from peripheral blood	blood
48	chr11:57251800-57253400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:57251800-57254000	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr11:57251800-57257400	Strong transcription	Left Ventricle	heart

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