Variant report

Variant	rs561218
Chromosome Location	chr11:120056000-120056001
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120054593..120056417-chr11:120079805..120082698,2	K562	blood:

Variant related genes	Relation type
ENSG00000184232	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12291190	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2508491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2508492	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511023	0.86[ASN][1000 genomes]
rs471776	0.95[ASN][1000 genomes]
rs481599	0.85[EUR][1000 genomes]
rs488615	1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs490819	0.95[ASN][1000 genomes]
rs507419	0.85[EUR][1000 genomes]
rs508266	0.85[EUR][1000 genomes]
rs513638	0.85[EUR][1000 genomes]
rs518863	0.96[ASN][1000 genomes]
rs546441	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs547897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548215	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs551843	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs571854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs574563	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs579368	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120043600-120057000	Weak transcription	Esophagus	oesophagus
2	chr11:120049400-120059800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr11:120049600-120057000	Weak transcription	Left Ventricle	heart
4	chr11:120051600-120057600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:120051800-120057000	Weak transcription	HMEC	breast
6	chr11:120051800-120057200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:120052000-120057200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:120052000-120057400	Weak transcription	NH-A	brain
9	chr11:120052200-120058200	Weak transcription	Fetal Brain Female	brain
10	chr11:120052600-120058200	Enhancers	Fetal Lung	lung
11	chr11:120053000-120056000	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr11:120053000-120057400	Weak transcription	Brain Angular Gyrus	brain
13	chr11:120053000-120057800	Flanking Active TSS	HepG2	liver
14	chr11:120053600-120056600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:120053800-120056200	Flanking Active TSS	Liver	Liver
16	chr11:120053800-120056200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr11:120053800-120058000	Enhancers	NHDF-Ad	bronchial
18	chr11:120054000-120056200	Flanking Active TSS	Fetal Intestine Large	intestine
19	chr11:120054200-120056000	Weak transcription	Spleen	Spleen
20	chr11:120054200-120057200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:120054200-120057600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr11:120054400-120056200	Flanking Active TSS	Fetal Intestine Small	intestine
23	chr11:120054400-120057600	Weak transcription	Fetal Heart	heart
24	chr11:120054600-120056200	Flanking Active TSS	Pancreas	Pancrea
25	chr11:120054600-120057000	Weak transcription	Right Atrium	heart
26	chr11:120054600-120057000	Weak transcription	Right Ventricle	heart
27	chr11:120054800-120056000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:120054800-120056600	Weak transcription	Colon Smooth Muscle	Colon
29	chr11:120054800-120056800	Weak transcription	Brain Anterior Caudate	brain
30	chr11:120054800-120057800	Enhancers	Fetal Kidney	kidney
31	chr11:120055000-120056000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:120055200-120056200	Flanking Active TSS	Colonic Mucosa	Colon
33	chr11:120055200-120056200	Active TSS	Rectal Smooth Muscle	rectum
34	chr11:120055200-120056400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:120055200-120056400	Flanking Active TSS	Fetal Muscle Trunk	muscle
36	chr11:120055400-120056000	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr11:120055400-120056200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:120055400-120057400	Enhancers	Placenta	Placenta
39	chr11:120055400-120057600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:120055400-120057600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:120055400-120058200	Enhancers	Stomach Mucosa	stomach
42	chr11:120055400-120058800	Enhancers	NHLF	lung
43	chr11:120055400-120059400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:120055600-120056000	Flanking Active TSS	Fetal Stomach	stomach
45	chr11:120055600-120056000	Flanking Active TSS	Ovary	ovary
46	chr11:120055600-120056000	Bivalent Enhancer	Osteobl	bone
47	chr11:120055600-120056200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:120055600-120056200	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr11:120055600-120056200	Flanking Active TSS	Fetal Muscle Leg	muscle
50	chr11:120055600-120056600	Enhancers	Cortex derived primary cultured neurospheres	brain

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