Variant report

Variant	rs7238238
Chromosome Location	chr18:12883080-12883081
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:65596946..65598700-chr18:12882626..12885488,2	MCF-7	breast:
2	chr18:12843323..12846138-chr18:12882410..12884352,2	MCF-7	breast:
3	chr18:12862494..12865307-chr18:12880258..12883236,3	MCF-7	breast:
4	chr18:12880282..12885478-chr18:12946145..12950206,8	K562	blood:
5	chr18:12699803..12702594-chr18:12881299..12884040,2	K562	blood:
6	chr18:12882667..12884316-chr18:13724618..13726583,2	K562	blood:
7	chr18:12702487..12704134-chr18:12881395..12884232,2	MCF-7	breast:
8	chr18:12869114..12870887-chr18:12882231..12883982,2	K562	blood:
9	chr18:12882771..12885367-chr18:12946819..12949664,2	MCF-7	breast:
10	chr18:12699667..12702594-chr18:12881299..12884281,3	K562	blood:
11	chr18:12880282..12884361-chr18:12946145..12949673,9	K562	blood:
12	chr18:12880723..12883598-chr18:12902234..12904693,2	K562	blood:
13	chr18:12882295..12883903-chr18:12953395..12955724,2	K562	blood:
14	chr18:12808897..12811465-chr18:12881476..12883993,2	MCF-7	breast:
15	chr18:12657085..12659648-chr18:12882376..12884207,2	K562	blood:
16	chr18:12827164..12830026-chr18:12882449..12884069,2	K562	blood:
17	chr18:12865974..12868849-chr18:12882069..12883733,2	MCF-7	breast:
18	chr18:12881395..12884200-chr18:12946697..12949759,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000215527	Chromatin interaction
ENSG00000085415	Chromatin interaction
ENSG00000175354	Chromatin interaction
ENSG00000177150	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000128789	Chromatin interaction
ENSG00000101624	Chromatin interaction
ENSG00000134278	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs2292758	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3826556	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs45579734	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs471401	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4797707	0.82[ASN][1000 genomes]
rs4797708	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs507304	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56384328	0.88[ASN][1000 genomes]
rs578377	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58200120	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59471125	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs607906	0.85[ASN][1000 genomes]
rs60803113	0.88[ASN][1000 genomes]
rs622717	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs637643	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6505769	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs669822	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs670671	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs683468	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7241650	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72872144	0.87[ASN][1000 genomes]
rs73950681	0.83[ASN][1000 genomes]
rs73950683	0.85[ASN][1000 genomes]
rs73950684	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73950685	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8084365	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8091305	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8098730	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9954778	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9959061	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9961827	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9961931	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9966378	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][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	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
3	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
4	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
5	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
6	nsv909407	chr18:12877060-12917703	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	n/a
7	esv3433183	chr18:12883052-12885400	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12879600-12883200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr18:12881200-12883200	Weak transcription	Spleen	Spleen
3	chr18:12881600-12883200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr18:12882000-12883200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr18:12882000-12883200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr18:12882000-12883400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr18:12882200-12883200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr18:12882200-12883200	Flanking Active TSS	Osteobl	bone
9	chr18:12882200-12885000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr18:12882200-12885000	Active TSS	A549	lung
11	chr18:12882200-12885000	Active TSS	HMEC	breast
12	chr18:12882200-12885000	Active TSS	NHLF	lung
13	chr18:12882400-12883200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr18:12882400-12883200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr18:12882400-12883400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr18:12882400-12884600	Active TSS	H1 Cell Line	embryonic stem cell
17	chr18:12882400-12884600	Active TSS	Fetal Thymus	thymus
18	chr18:12882400-12885000	Active TSS	GM12878-XiMat	blood
19	chr18:12882400-12885200	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr18:12882400-12885600	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr18:12882600-12883200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr18:12882600-12883200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr18:12882600-12883200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr18:12882600-12883200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr18:12882600-12883200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr18:12882600-12883200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr18:12882600-12883200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr18:12882600-12883200	Flanking Active TSS	Brain Angular Gyrus	brain
29	chr18:12882600-12883200	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr18:12882600-12883200	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr18:12882600-12883200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr18:12882600-12883200	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr18:12882600-12883200	Flanking Active TSS	Fetal Brain Male	brain
34	chr18:12882600-12883200	Flanking Active TSS	Fetal Lung	lung
35	chr18:12882600-12883200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr18:12882600-12883200	Flanking Active TSS	Hela-S3	cervix
37	chr18:12882600-12883200	Flanking Active TSS	HUVEC	blood vessel
38	chr18:12882600-12883200	Flanking Active TSS	NH-A	brain
39	chr18:12882600-12883400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr18:12882600-12883400	Flanking Active TSS	Fetal Brain Female	brain
41	chr18:12882600-12883400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr18:12882600-12883800	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr18:12882600-12884200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr18:12882600-12884600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr18:12882600-12884600	Active TSS	Muscle Satellite Cultured Cells	--
46	chr18:12882600-12884600	Active TSS	Fetal Muscle Leg	muscle
47	chr18:12882600-12884600	Active TSS	Thymus	Thymus
48	chr18:12882600-12884600	Active TSS	HSMM	muscle
49	chr18:12882600-12884800	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr18:12882600-12884800	Active TSS	Psoas Muscle	Psoas

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