Variant report

Variant	rs12457309
Chromosome Location	chr18:13275382-13275383
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:13274313..13276007-chr18:13276343..13278880,2	K562	blood:
2	chr18:13268397..13272481-chr18:13273229..13276163,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168675	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10775420	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10853230	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11080640	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11080641	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11662800	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28563139	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56078702	0.84[ASN][1000 genomes]
rs7228720	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7232054	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8093127	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909408	chr18:13122618-13308950	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv909410	chr18:13151544-13308950	Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13243600-13278200	Weak transcription	Dnd41	blood
2	chr18:13259200-13280000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:13261200-13282200	Weak transcription	Small Intestine	intestine
4	chr18:13267200-13276000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr18:13268400-13276800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr18:13268600-13276600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr18:13269400-13280000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:13270000-13276600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr18:13270000-13276800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr18:13270000-13279200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr18:13270000-13279800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr18:13270000-13283800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr18:13270000-13290000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr18:13270200-13278400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr18:13270200-13284600	Weak transcription	Psoas Muscle	Psoas
16	chr18:13270200-13288200	Weak transcription	Fetal Intestine Large	intestine
17	chr18:13270200-13290200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr18:13270200-13297600	Weak transcription	Colonic Mucosa	Colon
19	chr18:13270400-13279600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr18:13270800-13279000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr18:13270800-13279800	Weak transcription	Adipose Nuclei	Adipose
22	chr18:13270800-13282600	Weak transcription	Fetal Intestine Small	intestine
23	chr18:13271400-13281600	Weak transcription	Brain Germinal Matrix	brain
24	chr18:13271800-13276600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr18:13271800-13278600	Weak transcription	Liver	Liver
26	chr18:13272800-13276400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr18:13272800-13276400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr18:13272800-13284800	Weak transcription	Esophagus	oesophagus
29	chr18:13272800-13289600	Weak transcription	Gastric	stomach
30	chr18:13273000-13276400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr18:13273200-13275400	Enhancers	Fetal Heart	heart
32	chr18:13273200-13276400	Weak transcription	Fetal Lung	lung
33	chr18:13273200-13283800	Weak transcription	Spleen	Spleen
34	chr18:13274000-13275400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr18:13274000-13276600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr18:13274000-13279000	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr18:13274200-13276600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr18:13274200-13279000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr18:13274400-13275800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr18:13274400-13276200	Weak transcription	Brain Angular Gyrus	brain
41	chr18:13274400-13276400	Weak transcription	Aorta	Aorta
42	chr18:13274400-13276400	Weak transcription	Brain Hippocampus Middle	brain
43	chr18:13274400-13276400	Weak transcription	Fetal Brain Female	brain
44	chr18:13274400-13276400	Weak transcription	Right Ventricle	heart
45	chr18:13274400-13276600	Weak transcription	Fetal Brain Male	brain
46	chr18:13274400-13277200	Weak transcription	Pancreas	Pancrea
47	chr18:13274400-13277400	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr18:13274400-13277800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr18:13274400-13278000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr18:13274400-13278400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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