Variant report

Variant	rs11834593
Chromosome Location	chr12:46768936-46768937
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:46382586..46387481-chr12:46763277..46769922,9	K562	blood:

Variant related genes	Relation type
ENSG00000139218	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11183453	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11833812	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17096884	0.85[ASN][1000 genomes]
rs1948425	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2307059	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2307062	0.82[ASN][1000 genomes]
rs2307063	0.82[ASN][1000 genomes]
rs3742061	0.85[ASN][1000 genomes]
rs55795804	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56222195	0.82[ASN][1000 genomes]
rs57199226	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57271454	0.82[ASN][1000 genomes]
rs57425661	0.85[ASN][1000 genomes]
rs57786829	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58545634	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59546893	0.84[EUR][1000 genomes]
rs61406609	0.85[ASN][1000 genomes]
rs73282593	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs74083707	0.82[ASN][1000 genomes]
rs74083710	0.82[ASN][1000 genomes]
rs7967840	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[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	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
3	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46767800-46771200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:46767800-46771400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:46767800-46773800	Weak transcription	Pancreas	Pancrea
4	chr12:46767800-46774000	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:46767800-46774600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:46767800-46776200	Weak transcription	Small Intestine	intestine
7	chr12:46768000-46769200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr12:46768000-46769200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:46768000-46769200	Enhancers	Primary hematopoietic stem cells	blood
10	chr12:46768000-46770400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:46768000-46770400	Weak transcription	Stomach Mucosa	stomach
12	chr12:46768000-46771400	Weak transcription	GM12878-XiMat	blood
13	chr12:46768000-46775600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:46768000-46776200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:46768000-46776200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:46768000-46776200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:46768000-46776200	Weak transcription	Brain Substantia Nigra	brain
18	chr12:46768000-46776200	Weak transcription	Placenta	Placenta
19	chr12:46768000-46776200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr12:46768000-46776400	Weak transcription	Gastric	stomach
21	chr12:46768000-46776400	Weak transcription	Left Ventricle	heart
22	chr12:46768000-46776400	Weak transcription	Psoas Muscle	Psoas
23	chr12:46768200-46769200	Enhancers	Primary T cells from cord blood	blood
24	chr12:46768200-46769200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr12:46768200-46769600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:46768200-46771400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:46768200-46773800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:46768200-46775800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:46768200-46776000	Weak transcription	NH-A	brain
30	chr12:46768400-46771000	Enhancers	Liver	Liver
31	chr12:46768400-46771200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr12:46768400-46771200	Weak transcription	NHDF-Ad	bronchial
33	chr12:46768400-46771200	Weak transcription	Osteobl	bone
34	chr12:46768400-46773600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:46768400-46775600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:46768400-46775800	Weak transcription	A549	lung
37	chr12:46768400-46776000	Weak transcription	NHEK	skin
38	chr12:46768400-46776200	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr12:46768400-46776200	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr12:46768400-46776400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:46768600-46769000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:46768600-46770600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:46768600-46775800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:46768600-46776200	Weak transcription	Thymus	Thymus
45	chr12:46768800-46769600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr12:46768800-46770000	Weak transcription	Primary B cells from cord blood	blood
47	chr12:46768800-46770800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:46768800-46771400	Weak transcription	K562	blood
49	chr12:46768800-46771600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr12:46768800-46772200	Enhancers	HepG2	liver

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