Variant report

Variant	rs12092819
Chromosome Location	chr1:184722932-184722933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:183996674..183999449-chr1:184721278..184723656,2	K562	blood:
2	chr1:184721288..184723463-chr1:185282046..185283828,2	K562	blood:
3	chr1:184721859..184724654-chr1:185126581..185128573,2	MCF-7	breast:
4	chr1:184702525..184704823-chr1:184721375..184723068,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116668	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10911632	1.00[AMR][1000 genomes]
rs10911639	1.00[AMR][1000 genomes]
rs10911642	1.00[AMR][1000 genomes]
rs10911643	1.00[AMR][1000 genomes]
rs10911646	1.00[AMR][1000 genomes]
rs12060555	1.00[AMR][1000 genomes]
rs12060591	1.00[AMR][1000 genomes]
rs12065460	1.00[AMR][1000 genomes]
rs12066104	1.00[AMR][1000 genomes]
rs12066345	1.00[AMR][1000 genomes]
rs12069021	1.00[AMR][1000 genomes]
rs12069573	1.00[AMR][1000 genomes]
rs12070355	1.00[AMR][1000 genomes]
rs12070920	1.00[AMR][1000 genomes]
rs12089563	1.00[AFR][1000 genomes]
rs28457200	1.00[AMR][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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv832037	chr1:184568194-184756597	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer 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 target site	13 gene(s)	inside rSNPs	diseases
6	nsv1009529	chr1:184663898-184731215	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv3403637	chr1:184722554-184725102	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184674600-184723000	Weak transcription	Aorta	Aorta
2	chr1:184677600-184723200	Weak transcription	Lung	lung
3	chr1:184707000-184723000	Weak transcription	Placenta	Placenta
4	chr1:184717400-184723200	Weak transcription	Left Ventricle	heart
5	chr1:184721200-184723200	Weak transcription	Gastric	stomach
6	chr1:184721400-184723000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr1:184721600-184723400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr1:184721800-184723000	Flanking Active TSS	Dnd41	blood
9	chr1:184721800-184724600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:184721800-184725200	Active TSS	Psoas Muscle	Psoas
11	chr1:184721800-184725200	Active TSS	Stomach Mucosa	stomach
12	chr1:184722000-184723200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:184722000-184723200	Weak transcription	Esophagus	oesophagus
14	chr1:184722000-184723600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:184722000-184725000	Active TSS	GM12878-XiMat	blood
16	chr1:184722000-184725000	Active TSS	K562	blood
17	chr1:184722200-184723000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:184722200-184723000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:184722200-184723000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr1:184722200-184723200	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr1:184722200-184723200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr1:184722200-184723200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr1:184722200-184723200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:184722200-184723600	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr1:184722200-184723600	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr1:184722200-184723600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:184722200-184724600	Active TSS	Duodenum Mucosa	Duodenum
28	chr1:184722200-184724800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:184722200-184725200	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr1:184722200-184725200	Active TSS	Fetal Stomach	stomach
31	chr1:184722200-184725400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:184722400-184723000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:184722400-184723000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:184722400-184723000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr1:184722400-184723000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:184722400-184723000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr1:184722400-184723000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr1:184722400-184723000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr1:184722400-184723000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr1:184722400-184723000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr1:184722400-184723000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:184722400-184723000	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr1:184722400-184723000	Flanking Active TSS	HUVEC	blood vessel
44	chr1:184722400-184723200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:184722400-184723400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr1:184722400-184723400	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr1:184722400-184724400	Active TSS	Fetal Thymus	thymus
48	chr1:184722400-184724800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:184722400-184725000	Active TSS	Fetal Intestine Large	intestine
50	chr1:184722400-184725000	Active TSS	Thymus	Thymus

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