Variant report

Variant	rs12964485
Chromosome Location	chr18:9091544-9091545
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9089564..9091927-chr18:9106557..9108068,2	MCF-7	breast:
2	chr18:9090630..9098108-chr18:9101820..9106792,10	MCF-7	breast:
3	chr18:9090749..9092578-chr18:9112344..9115016,2	MCF-7	breast:
4	chr18:9090316..9092996-chr18:9137087..9138947,2	K562	blood:
5	chr18:9083562..9086099-chr18:9089409..9093544,4	K562	blood:
6	chr18:9089096..9091816-chr18:9136693..9138947,2	K562	blood:
7	chr18:9090100..9092818-chr18:9135581..9137198,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178127	Chromatin interaction
ENSG00000266053	Chromatin interaction
ENSG00000101745	Chromatin interaction
ENSG00000265257	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11661859	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12606569	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12963114	0.92[CEU][hapmap];0.80[GIH][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap]
rs12969399	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9946176	0.92[CEU][hapmap]
rs998172	0.92[CEU][hapmap];0.80[CHD][hapmap];0.89[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer 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	25 gene(s)	inside rSNPs	diseases
2	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv1832073	chr18:9048118-9094498	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9083400-9095000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr18:9083400-9095200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr18:9083400-9097200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr18:9084400-9094800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr18:9089600-9093200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr18:9089600-9093200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr18:9089600-9093800	Weak transcription	Colon Smooth Muscle	Colon
8	chr18:9089600-9094000	Weak transcription	Small Intestine	intestine
9	chr18:9090000-9092800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr18:9090000-9093200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr18:9090000-9094000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr18:9090200-9091600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr18:9090200-9092200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr18:9090200-9093200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr18:9090400-9092000	Weak transcription	HepG2	liver
16	chr18:9090800-9091600	Enhancers	Primary T cells from cord blood	blood
17	chr18:9091000-9091600	Enhancers	A549	lung
18	chr18:9091000-9092200	Weak transcription	HUVEC	blood vessel
19	chr18:9091200-9093000	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr18:9091200-9093200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr18:9091200-9093200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr18:9091200-9093400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr18:9091200-9094200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr18:9091200-9094400	Weak transcription	K562	blood
25	chr18:9091200-9096200	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr18:9091400-9091600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr18:9091400-9091800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr18:9091400-9092400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr18:9091400-9093800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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