Variant report

Variant	rs8093334
Chromosome Location	chr18:13015291-13015292
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:13013666..13015627-chr18:13045004..13047984,2	K562	blood:
2	chr18:12989262..12993018-chr18:13015228..13019059,4	K562	blood:
3	chr18:13012462..13013994-chr18:13014069..13016844,2	MCF-7	breast:
4	chr18:13005973..13010293-chr18:13010945..13016476,6	K562	blood:
5	chr18:12990161..12992995-chr18:13012731..13015315,3	K562	blood:

Variant related genes	Relation type
ENSG00000101639	Chromatin interaction
ENSG00000266969	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12326895	1.00[ASN][1000 genomes]
rs12326918	1.00[ASN][1000 genomes]
rs12456090	1.00[ASN][1000 genomes]
rs1941677	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45569735	1.00[ASN][1000 genomes]
rs57059670	1.00[ASN][1000 genomes]
rs59094674	1.00[ASN][1000 genomes]
rs60429647	1.00[ASN][1000 genomes]
rs62095838	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66473178	1.00[ASN][1000 genomes]
rs66718605	1.00[ASN][1000 genomes]
rs7229084	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73406801	1.00[ASN][1000 genomes]
rs73408703	1.00[ASN][1000 genomes]
rs73416984	1.00[ASN][1000 genomes]
rs73950700	1.00[ASN][1000 genomes]
rs73950701	1.00[ASN][1000 genomes]
rs73950702	1.00[ASN][1000 genomes]
rs8083335	1.00[ASN][1000 genomes]
rs8089518	1.00[ASN][1000 genomes]
rs8090005	1.00[ASN][1000 genomes]
rs8092206	1.00[ASN][1000 genomes]
rs9953027	1.00[ASN][1000 genomes]
rs9954347	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers 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 target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv1062413	chr18:12988947-13039941	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv543657	chr18:12988947-13039941	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12992600-13031200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr18:12992800-13016000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr18:12993000-13023800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr18:12993400-13017800	Weak transcription	Stomach Mucosa	stomach
5	chr18:12995200-13042000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:12998400-13041600	Strong transcription	Dnd41	blood
7	chr18:12999200-13039000	Strong transcription	Fetal Thymus	thymus
8	chr18:12999400-13020800	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr18:12999400-13021800	Strong transcription	Primary T cells from cord blood	blood
10	chr18:12999600-13017200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:12999600-13018800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr18:13000400-13034000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr18:13002800-13021200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr18:13003400-13016800	Strong transcription	Thymus	Thymus
15	chr18:13004600-13018200	Strong transcription	GM12878-XiMat	blood
16	chr18:13004800-13024200	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr18:13004800-13031800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr18:13005000-13039200	Strong transcription	Primary B cells from peripheral blood	blood
19	chr18:13005400-13017400	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr18:13005400-13018600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr18:13005400-13018600	Strong transcription	Fetal Intestine Large	intestine
22	chr18:13005400-13033400	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr18:13005600-13015800	Weak transcription	Esophagus	oesophagus
24	chr18:13005800-13015600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr18:13006400-13034400	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr18:13006600-13018000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr18:13007200-13044000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr18:13007600-13018000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr18:13007800-13021000	Strong transcription	Liver	Liver
30	chr18:13007800-13022400	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr18:13008000-13019200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr18:13008000-13022000	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr18:13008000-13025000	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr18:13008000-13046000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr18:13008200-13016800	Strong transcription	Fetal Stomach	stomach
36	chr18:13008200-13021200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr18:13008400-13017000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr18:13008400-13017600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr18:13008400-13018200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr18:13008400-13020400	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr18:13008400-13020800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr18:13008400-13020800	Strong transcription	Duodenum Mucosa	Duodenum
43	chr18:13008400-13020800	Strong transcription	Fetal Muscle Trunk	muscle
44	chr18:13008400-13021000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr18:13008400-13021000	Strong transcription	Adipose Nuclei	Adipose
46	chr18:13008400-13021800	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr18:13008400-13022400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr18:13008400-13047200	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr18:13008600-13018600	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr18:13008600-13019000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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