Variant report

Variant	rs12458323
Chromosome Location	chr18:13303864-13303865
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:13286615..13289389-chr18:13302517..13304559,2	MCF-7	breast:
2	chr18:13297804..13299921-chr18:13302909..13305321,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11659839	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11659895	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11663785	1.00[JPT][hapmap]
rs12963130	0.80[EUR][1000 genomes]
rs62096867	0.84[EUR][1000 genomes]
rs62097350	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9947965	0.88[EUR][1000 genomes]
rs9960998	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]

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	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
3	nsv2209	chr18:13276410-13316570	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv531246	chr18:13298774-14082028	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13285000-13316200	Weak transcription	Aorta	Aorta
2	chr18:13295600-13312600	Weak transcription	Dnd41	blood
3	chr18:13298800-13314600	Weak transcription	Fetal Intestine Small	intestine
4	chr18:13299800-13304200	Enhancers	Fetal Muscle Leg	muscle
5	chr18:13299800-13304600	Enhancers	Left Ventricle	heart
6	chr18:13300400-13304400	Weak transcription	Pancreas	Pancrea
7	chr18:13301200-13304400	Enhancers	Fetal Thymus	thymus
8	chr18:13301200-13308400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr18:13301400-13304000	Enhancers	Brain Germinal Matrix	brain
10	chr18:13301600-13304000	Enhancers	Brain Substantia Nigra	brain
11	chr18:13301600-13304200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr18:13301600-13304200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr18:13301600-13304600	Enhancers	Brain Hippocampus Middle	brain
14	chr18:13301800-13304000	Enhancers	Thymus	Thymus
15	chr18:13301800-13304200	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr18:13301800-13304600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr18:13301800-13305800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr18:13302000-13304400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr18:13302000-13305000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr18:13302200-13304400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr18:13302400-13304600	Enhancers	Primary T cells from cord blood	blood
22	chr18:13302400-13304600	Enhancers	Primary hematopoietic stem cells	blood
23	chr18:13302600-13304000	Enhancers	NH-A	brain
24	chr18:13302600-13304200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr18:13302800-13304200	Enhancers	Fetal Heart	heart
26	chr18:13302800-13304400	Enhancers	Brain Cingulate Gyrus	brain
27	chr18:13302800-13305000	Enhancers	Brain Anterior Caudate	brain
28	chr18:13303000-13304000	Enhancers	Fetal Muscle Trunk	muscle
29	chr18:13303000-13304200	Weak transcription	Spleen	Spleen
30	chr18:13303000-13304400	Enhancers	Fetal Brain Male	brain
31	chr18:13303000-13308000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr18:13303000-13308400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr18:13303000-13308600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr18:13303000-13314400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr18:13303200-13304200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr18:13303200-13312400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr18:13303200-13314400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr18:13303200-13314600	Weak transcription	Colonic Mucosa	Colon
39	chr18:13303200-13316600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr18:13303200-13318600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr18:13303200-13318600	Weak transcription	Right Atrium	heart
42	chr18:13303400-13304600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr18:13303400-13305000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr18:13303400-13306200	Weak transcription	Right Ventricle	heart
45	chr18:13303400-13314600	Weak transcription	Fetal Lung	lung
46	chr18:13303400-13314600	Weak transcription	Fetal Stomach	stomach
47	chr18:13303600-13306400	Weak transcription	Adipose Nuclei	Adipose
48	chr18:13303600-13307200	Weak transcription	Fetal Brain Female	brain
49	chr18:13303600-13318600	Weak transcription	Colon Smooth Muscle	Colon

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