Variant report

Variant	rs12072238
Chromosome Location	chr1:180886441-180886442
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180880902..180883587-chr1:180884208..180886874,3	MCF-7	breast:
2	chr1:180850757..180851768-chr1:180886019..180887077,4	MCF-7	breast:
3	chr1:180885638..180890175-chr1:180892218..180894358,4	MCF-7	breast:
4	chr1:180851211..180851748-chr1:180886156..180886674,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135835	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs55993187	1.00[EUR][1000 genomes]
rs56248351	1.00[EUR][1000 genomes]
rs57076921	1.00[EUR][1000 genomes]
rs59291780	1.00[EUR][1000 genomes]
rs59994037	1.00[EUR][1000 genomes]
rs60155065	1.00[EUR][1000 genomes]
rs6675116	1.00[EUR][1000 genomes]
rs74133646	1.00[EUR][1000 genomes]
rs74133647	1.00[EUR][1000 genomes]
rs74133648	1.00[EUR][1000 genomes]
rs74135814	1.00[EUR][1000 genomes]
rs74135816	1.00[EUR][1000 genomes]
rs74135829	1.00[EUR][1000 genomes]
rs74135835	1.00[EUR][1000 genomes]
rs74135840	1.00[EUR][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	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv872579	chr1:180881148-180931508	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180882400-180894600	Weak transcription	Pancreas	Pancrea
2	chr1:180882600-180894000	Weak transcription	Brain Substantia Nigra	brain
3	chr1:180882800-180887000	Weak transcription	Spleen	Spleen
4	chr1:180882800-180887200	Weak transcription	Placenta	Placenta
5	chr1:180882800-180887400	Weak transcription	Gastric	stomach
6	chr1:180882800-180888000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:180882800-180889400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:180882800-180891200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:180882800-180892600	Weak transcription	Esophagus	oesophagus
10	chr1:180882800-180894400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:180883000-180886800	Weak transcription	HSMMtube	muscle
12	chr1:180883000-180891200	Weak transcription	Fetal Brain Female	brain
13	chr1:180883000-180891600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:180883000-180892200	Weak transcription	Brain Germinal Matrix	brain
15	chr1:180883000-180894600	Weak transcription	Right Ventricle	heart
16	chr1:180883000-180894800	Weak transcription	Colonic Mucosa	Colon
17	chr1:180883200-180892200	Weak transcription	Right Atrium	heart
18	chr1:180883200-180894200	Weak transcription	Brain Angular Gyrus	brain
19	chr1:180883400-180887800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:180883400-180892600	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:180883600-180886800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:180883600-180886800	Weak transcription	Left Ventricle	heart
23	chr1:180883600-180887200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:180883600-180887600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:180883600-180888600	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:180883600-180891800	Weak transcription	HSMM	muscle
27	chr1:180883600-180892000	Weak transcription	Fetal Heart	heart
28	chr1:180883600-180892200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:180883600-180894200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr1:180883600-180894200	Weak transcription	Fetal Lung	lung
31	chr1:180883600-180894800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:180883600-180895000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr1:180884200-180886600	Strong transcription	Fetal Stomach	stomach
34	chr1:180885000-180886800	Strong transcription	Stomach Smooth Muscle	stomach
35	chr1:180885000-180887200	Strong transcription	Ovary	ovary
36	chr1:180885200-180887400	Weak transcription	K562	blood
37	chr1:180885200-180891000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:180885400-180887600	Strong transcription	Osteobl	bone
39	chr1:180885400-180888200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:180885400-180889600	Genic enhancers	Fetal Muscle Trunk	muscle
41	chr1:180885400-180891200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:180885600-180886600	Strong transcription	Brain Cingulate Gyrus	brain
43	chr1:180885600-180887200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:180885600-180887800	Strong transcription	Adipose Nuclei	Adipose
45	chr1:180885600-180887800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:180885600-180888200	Strong transcription	Placenta Amnion	Placenta Amnion
47	chr1:180885600-180888400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:180885600-180888400	Strong transcription	Aorta	Aorta
49	chr1:180885600-180889600	Strong transcription	Fetal Intestine Small	intestine
50	chr1:180885800-180887600	Strong transcription	Lung	lung

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