Variant report

Variant	rs8088113
Chromosome Location	chr18:9824185-9824186
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9816447..9818510-chr18:9822454..9825221,3	K562	blood:
2	chr18:9805004..9807310-chr18:9824061..9827031,2	K562	blood:
3	chr18:9816186..9818041-chr18:9822656..9824440,2	MCF-7	breast:
4	chr18:9823990..9825953-chr18:9922807..9924603,2	K562	blood:
5	chr18:9823749..9827014-chr18:9916286..9918554,3	K562	blood:

Variant related genes	Relation type
ENSG00000223138	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10460021	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16955693	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16955694	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16955697	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16955703	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2284139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2284141	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2284142	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2284143	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2284144	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2284145	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57521478	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59116962	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59718720	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60288961	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72477242	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8088423	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv909366	chr18:9760942-9827368	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	nsv833586	chr18:9783830-9971693	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9807600-9824400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr18:9807800-9832000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr18:9809000-9825000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr18:9809200-9824400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr18:9809200-9824600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr18:9809200-9824800	Weak transcription	Lung	lung
7	chr18:9809200-9825000	Weak transcription	Stomach Mucosa	stomach
8	chr18:9809400-9824400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr18:9809600-9824400	Weak transcription	HMEC	breast
10	chr18:9812400-9834600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr18:9812400-9834800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr18:9815200-9824400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr18:9815200-9824400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr18:9816800-9824200	Weak transcription	Adipose Nuclei	Adipose
15	chr18:9818000-9824200	Weak transcription	Right Ventricle	heart
16	chr18:9818000-9824800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr18:9818200-9824400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr18:9818400-9825000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr18:9818800-9828000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr18:9819000-9825000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr18:9819800-9824400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr18:9820200-9825400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr18:9821200-9824800	Weak transcription	HUVEC	blood vessel
24	chr18:9822600-9824200	Enhancers	K562	blood
25	chr18:9822600-9825000	Genic enhancers	Hela-S3	cervix
26	chr18:9822800-9824800	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr18:9822800-9825400	Enhancers	Psoas Muscle	Psoas
28	chr18:9822800-9826200	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr18:9823000-9824600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr18:9823000-9824600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr18:9823000-9824600	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr18:9823000-9825200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr18:9823000-9825800	Enhancers	Fetal Muscle Leg	muscle
34	chr18:9823000-9826200	Enhancers	Aorta	Aorta
35	chr18:9823000-9830600	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr18:9823200-9824800	Enhancers	Fetal Brain Male	brain
37	chr18:9823200-9825000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr18:9823400-9824800	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr18:9823400-9826200	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr18:9823600-9824200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr18:9823800-9824200	Enhancers	Stomach Smooth Muscle	stomach
42	chr18:9823800-9824200	Enhancers	Osteobl	bone
43	chr18:9823800-9824600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr18:9823800-9824600	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr18:9823800-9824800	Weak transcription	Primary B cells from cord blood	blood
46	chr18:9823800-9825000	Enhancers	A549	lung
47	chr18:9823800-9825200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr18:9823800-9825200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr18:9823800-9825400	Enhancers	Colon Smooth Muscle	Colon
50	chr18:9823800-9825400	Enhancers	Fetal Stomach	stomach

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