Variant report

Variant	rs544864
Chromosome Location	chr11:58978940-58978941
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1048444	0.85[CHB][hapmap];0.82[CHD][hapmap]
rs10896955	0.80[EUR][1000 genomes]
rs11229895	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1938594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2000875	0.85[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap]
rs3847	0.85[CHB][hapmap]
rs4939267	0.89[CHB][hapmap]
rs558573	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs621162	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7115130	0.81[ASW][hapmap];0.92[CEU][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]

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	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv2758272	chr11:58700092-59008673	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2759830	chr11:58700092-59008673	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1821250	chr11:58925860-59059179	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58973400-58983200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:58973600-58982000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:58973800-58979600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:58973800-58984000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:58974800-58980200	Weak transcription	Brain Germinal Matrix	brain
6	chr11:58975000-58980400	Weak transcription	Fetal Brain Female	brain
7	chr11:58975200-58980000	Weak transcription	Lung	lung
8	chr11:58975400-58980000	Active TSS	Duodenum Mucosa	Duodenum
9	chr11:58975400-58986600	Weak transcription	Gastric	stomach
10	chr11:58975600-58980200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:58975800-58980000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr11:58975800-58980400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:58975800-58980400	Active TSS	Fetal Intestine Large	intestine
14	chr11:58975800-58980800	Active TSS	Adipose Nuclei	Adipose
15	chr11:58975800-58981800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:58976000-58980400	Active TSS	Placenta	Placenta
17	chr11:58976000-58989400	Weak transcription	Stomach Mucosa	stomach
18	chr11:58976200-58980400	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr11:58976200-58980400	Active TSS	Fetal Muscle Leg	muscle
20	chr11:58976400-58979200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr11:58976400-58979200	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr11:58976400-58979200	Active TSS	Right Atrium	heart
23	chr11:58976400-58981000	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr11:58976600-58980400	Active TSS	Liver	Liver
25	chr11:58977000-58980400	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr11:58977000-58981000	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr11:58977200-58980200	Active TSS	Primary monocytes fromperipheralblood	blood
28	chr11:58977200-58981200	Active TSS	Rectal Smooth Muscle	rectum
29	chr11:58977400-58980200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:58977400-58981000	Weak transcription	HSMMtube	muscle
31	chr11:58977400-58981400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:58977600-58979000	Active TSS	Monocytes-CD14+_RO01746	blood
33	chr11:58977600-58981600	Flanking Active TSS	GM12878-XiMat	blood
34	chr11:58977600-58984000	Weak transcription	Fetal Lung	lung
35	chr11:58977800-58980400	Active TSS	Spleen	Spleen
36	chr11:58977800-58980600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
37	chr11:58978000-58980000	Weak transcription	Fetal Kidney	kidney
38	chr11:58978000-58980400	Active TSS	Left Ventricle	heart
39	chr11:58978000-58980400	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr11:58978200-58979000	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
41	chr11:58978200-58979200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr11:58978200-58979200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
43	chr11:58978200-58980000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr11:58978200-58981000	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr11:58978400-58980400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr11:58978600-58979000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr11:58978600-58979200	Weak transcription	Brain Hippocampus Middle	brain
48	chr11:58978600-58979800	Active TSS	Pancreas	Pancrea
49	chr11:58978600-58980000	Weak transcription	Fetal Thymus	thymus
50	chr11:58978600-58984000	Weak transcription	Colon Smooth Muscle	Colon

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