Variant report

Variant	rs627861
Chromosome Location	chr11:57459497-57459498
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10444364	1.00[ASN][1000 genomes]
rs10736687	1.00[ASN][1000 genomes]
rs10750868	1.00[ASN][1000 genomes]
rs10896643	1.00[ASN][1000 genomes]
rs1313360	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1553827	1.00[ASN][1000 genomes]
rs1798174	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1939322	1.00[ASN][1000 genomes]
rs2860261	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34430954	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs474073	1.00[ASN][1000 genomes]
rs474464	1.00[ASN][1000 genomes]
rs505995	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs523739	1.00[ASN][1000 genomes]
rs542777	1.00[ASN][1000 genomes]
rs552122	1.00[ASN][1000 genomes]
rs554140	1.00[ASN][1000 genomes]
rs557051	1.00[ASN][1000 genomes]
rs55786036	1.00[ASN][1000 genomes]
rs55838210	1.00[ASN][1000 genomes]
rs56879142	1.00[ASN][1000 genomes]
rs58176671	1.00[ASN][1000 genomes]
rs585190	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58851976	1.00[ASN][1000 genomes]
rs59046396	1.00[ASN][1000 genomes]
rs60282001	1.00[ASN][1000 genomes]
rs60897155	1.00[ASN][1000 genomes]
rs61444907	1.00[ASN][1000 genomes]
rs61638601	1.00[ASN][1000 genomes]
rs61743110	1.00[ASN][1000 genomes]
rs635663	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs637116	1.00[ASN][1000 genomes]
rs648412	1.00[ASN][1000 genomes]
rs7103407	1.00[ASN][1000 genomes]
rs7103768	1.00[ASN][1000 genomes]
rs7118249	1.00[ASN][1000 genomes]
rs7118308	1.00[ASN][1000 genomes]
rs7131175	1.00[ASN][1000 genomes]
rs73472468	1.00[ASN][1000 genomes]
rs73474417	1.00[ASN][1000 genomes]
rs73482748	1.00[ASN][1000 genomes]
rs73482786	1.00[ASN][1000 genomes]
rs73482796	1.00[ASN][1000 genomes]
rs73482801	1.00[ASN][1000 genomes]
rs7928666	1.00[ASN][1000 genomes]
rs7938752	1.00[ASN][1000 genomes]
rs947940	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
4	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57436600-57479000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:57438600-57464600	Strong transcription	Fetal Brain Female	brain
3	chr11:57438600-57469400	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr11:57438600-57478200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:57438800-57464600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr11:57438800-57469600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr11:57438800-57473800	Strong transcription	Fetal Muscle Trunk	muscle
8	chr11:57439000-57469400	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:57439000-57473400	Strong transcription	Fetal Thymus	thymus
10	chr11:57439000-57477400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:57439200-57464600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:57439200-57469600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:57439400-57473000	Strong transcription	Placenta	Placenta
14	chr11:57439800-57473400	Strong transcription	Fetal Muscle Leg	muscle
15	chr11:57441200-57460600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:57442800-57472800	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr11:57443200-57472600	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr11:57446600-57474200	Strong transcription	Fetal Intestine Large	intestine
19	chr11:57446800-57464600	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:57447000-57473800	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:57447800-57474200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:57448000-57472800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:57448000-57473200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr11:57448200-57474400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:57448400-57464600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:57448400-57472600	Strong transcription	Liver	Liver
27	chr11:57448400-57472600	Strong transcription	Lung	lung
28	chr11:57448400-57472600	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:57448400-57472800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:57448400-57472800	Strong transcription	Duodenum Mucosa	Duodenum
31	chr11:57448400-57473800	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr11:57448600-57464600	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr11:57448600-57469800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:57448600-57476400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr11:57448800-57464600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:57448800-57464600	Strong transcription	Osteobl	bone
37	chr11:57448800-57468600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:57449000-57476000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:57449200-57469200	Strong transcription	Adipose Nuclei	Adipose
40	chr11:57449400-57469200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:57449400-57474200	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr11:57449800-57469600	Strong transcription	Stomach Smooth Muscle	stomach
43	chr11:57449800-57474200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr11:57450000-57460800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:57450000-57469600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:57450200-57466800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr11:57450400-57473800	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr11:57450800-57469600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:57451000-57469800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:57451200-57474200	Strong transcription	Fetal Stomach	stomach

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