Variant report

Variant	rs11061888
Chromosome Location	chr12:1747847-1747848
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1745580..1751053-chr12:1752530..1755627,4	K562	blood:
2	chr12:1746984..1749673-chr12:1753092..1755153,3	K562	blood:
3	chr12:1739520..1741562-chr12:1747330..1749766,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111186	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10773972	0.86[EUR][1000 genomes]
rs10848539	0.85[EUR][1000 genomes]
rs10848540	0.92[ASN][1000 genomes]
rs11061886	0.92[ASN][1000 genomes]
rs11061887	0.93[ASN][1000 genomes]
rs11061889	0.93[ASN][1000 genomes]
rs12300239	0.89[ASN][1000 genomes]
rs2079516	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270031	0.92[ASN][1000 genomes]
rs2270032	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2270033	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4765836	0.88[EUR][1000 genomes]
rs4766401	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6489308	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489309	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv898584	chr12:1607390-1783251	Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv826180	chr12:1614395-1759431	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv826181	chr12:1619798-1754941	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv832304	chr12:1710249-1868642	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv898587	chr12:1732295-1756642	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv898588	chr12:1736314-1755960	Bivalent Enhancer Enhancers Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv898589	chr12:1738111-1755654	Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
10	nsv898590	chr12:1740171-1757743	Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
11	nsv898591	chr12:1745208-1755960	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1739800-1753800	Weak transcription	Esophagus	oesophagus
2	chr12:1740000-1748800	Weak transcription	Pancreas	Pancrea
3	chr12:1740000-1749000	Weak transcription	Ovary	ovary
4	chr12:1740600-1748800	Weak transcription	Gastric	stomach
5	chr12:1740600-1753400	Strong transcription	Osteobl	bone
6	chr12:1740600-1755000	Weak transcription	Spleen	Spleen
7	chr12:1740800-1751000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:1740800-1753200	Weak transcription	NH-A	brain
9	chr12:1740800-1753600	Weak transcription	Placenta	Placenta
10	chr12:1740800-1757400	Weak transcription	GM12878-XiMat	blood
11	chr12:1741000-1749200	Weak transcription	HSMMtube	muscle
12	chr12:1741400-1752800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:1742000-1753400	Weak transcription	NHEK	skin
14	chr12:1742200-1749400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:1743000-1749400	Weak transcription	Fetal Lung	lung
16	chr12:1743600-1759000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:1743800-1749400	Weak transcription	Stomach Mucosa	stomach
18	chr12:1744000-1749200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr12:1744000-1753000	Weak transcription	Colon Smooth Muscle	Colon
20	chr12:1744000-1753200	Weak transcription	Colonic Mucosa	Colon
21	chr12:1744200-1749000	Weak transcription	Fetal Intestine Small	intestine
22	chr12:1744200-1751600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr12:1744200-1753400	Weak transcription	Adipose Nuclei	Adipose
24	chr12:1744400-1748600	Weak transcription	Fetal Brain Male	brain
25	chr12:1744400-1752000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:1744400-1753000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:1744400-1753200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:1744400-1753200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr12:1744400-1759000	Weak transcription	Right Ventricle	heart
30	chr12:1744600-1753000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr12:1744600-1753000	Weak transcription	Brain Substantia Nigra	brain
32	chr12:1744600-1758000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:1745000-1748400	Weak transcription	Fetal Stomach	stomach
34	chr12:1745000-1748600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:1745000-1748600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:1745000-1748800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:1745000-1749000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:1745000-1749200	Weak transcription	Fetal Brain Female	brain
39	chr12:1745000-1749600	Weak transcription	Brain Anterior Caudate	brain
40	chr12:1745000-1749800	Strong transcription	Fetal Muscle Trunk	muscle
41	chr12:1745000-1751400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr12:1745000-1753200	Weak transcription	Brain Hippocampus Middle	brain
43	chr12:1745200-1748400	Weak transcription	NHLF	lung
44	chr12:1745200-1748600	Weak transcription	Brain Germinal Matrix	brain
45	chr12:1745200-1750800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:1745200-1751400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:1745600-1749200	Weak transcription	NHDF-Ad	bronchial
48	chr12:1745600-1753600	Weak transcription	Liver	Liver
49	chr12:1746200-1752000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:1746400-1749600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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