Variant report

Variant	rs8091858
Chromosome Location	chr18:12358661-12358662
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12309708..12311780-chr18:12356132..12358886,2	K562	blood:
2	chr18:12358323..12362507-chr18:12375018..12379122,7	K562	blood:
3	chr18:12356851..12359830-chr18:12373895..12378079,5	K562	blood:
4	chr18:12333793..12335382-chr18:12358022..12359784,2	K562	blood:
5	chr18:12357213..12360142-chr18:12658246..12659878,2	K562	blood:
6	chr18:12357078..12360021-chr18:12368402..12370925,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176014	Chromatin interaction
ENSG00000128789	Chromatin interaction
ENSG00000141385	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12962107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12964238	1.00[AFR][1000 genomes]
rs35757844	1.00[AFR][1000 genomes]
rs71351475	1.00[AFR][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	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers 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	64 gene(s)	inside rSNPs	diseases
5	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
7	nsv1060808	chr18:12302792-12514417	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12326200-12366400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr18:12333200-12362200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr18:12333200-12370800	Strong transcription	Fetal Muscle Trunk	muscle
4	chr18:12333200-12371200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr18:12333400-12366600	Strong transcription	Sigmoid Colon	Sigmoid Colon
6	chr18:12333400-12370200	Strong transcription	Fetal Thymus	thymus
7	chr18:12333400-12370800	Strong transcription	Fetal Muscle Leg	muscle
8	chr18:12333400-12371400	Strong transcription	Fetal Stomach	stomach
9	chr18:12333600-12361800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr18:12333600-12362600	Strong transcription	Adipose Nuclei	Adipose
11	chr18:12333600-12364000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr18:12333600-12366400	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr18:12333600-12369600	Strong transcription	Placenta	Placenta
14	chr18:12333600-12369800	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr18:12333800-12360200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr18:12333800-12369400	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr18:12334000-12369400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr18:12335600-12362600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr18:12337000-12367600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr18:12337000-12374200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr18:12337200-12359800	Strong transcription	Fetal Intestine Large	intestine
22	chr18:12337200-12369400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr18:12337400-12369800	Strong transcription	Liver	Liver
24	chr18:12337400-12370400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr18:12337800-12360200	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr18:12337800-12360600	Strong transcription	Duodenum Mucosa	Duodenum
27	chr18:12337800-12369600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr18:12337800-12370800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr18:12338600-12359600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr18:12339200-12368800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr18:12339800-12359600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr18:12339800-12362000	Strong transcription	Stomach Smooth Muscle	stomach
33	chr18:12339800-12370200	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr18:12339800-12371400	Strong transcription	Dnd41	blood
35	chr18:12340000-12361800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr18:12340000-12362000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr18:12340000-12365000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr18:12340000-12369400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr18:12340000-12369400	Strong transcription	HepG2	liver
40	chr18:12340000-12369600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr18:12340000-12370800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr18:12340000-12371400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr18:12340000-12371600	Strong transcription	GM12878-XiMat	blood
44	chr18:12340200-12361600	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr18:12340200-12366400	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr18:12340200-12369400	Strong transcription	Hela-S3	cervix
47	chr18:12340400-12359800	Strong transcription	Osteobl	bone
48	chr18:12340400-12367400	Strong transcription	Thymus	Thymus
49	chr18:12340800-12360000	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr18:12340800-12360200	Strong transcription	H1 Cell Line	embryonic stem cell

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