Variant report

Variant	rs12122997
Chromosome Location	chr1:180880328-180880329
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	chr1:180873512..180876781-chr1:180876890..180880881,3	K562	blood:
2	chr1:180879805..180882226-chr1:180894957..180896873,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225857	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10914128	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118635	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12123254	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131915	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6702006	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180805800-180881000	Weak transcription	Aorta	Aorta
2	chr1:180824000-180880800	Weak transcription	Right Ventricle	heart
3	chr1:180861200-180880800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:180868800-180880400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:180868800-180881000	Weak transcription	Right Atrium	heart
6	chr1:180869600-180881000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:180869800-180880800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:180870800-180880600	Weak transcription	Brain Germinal Matrix	brain
9	chr1:180877600-180881200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:180878400-180880400	Enhancers	Fetal Lung	lung
11	chr1:180878400-180881000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:180878600-180881000	Weak transcription	Lung	lung
13	chr1:180879000-180880800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:180879000-180881000	Enhancers	Fetal Heart	heart
15	chr1:180879200-180880400	Enhancers	Stomach Smooth Muscle	stomach
16	chr1:180879200-180880600	Weak transcription	Fetal Kidney	kidney
17	chr1:180879200-180881800	Weak transcription	A549	lung
18	chr1:180879400-180880400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr1:180879400-180880600	Weak transcription	Fetal Brain Male	brain
20	chr1:180879400-180880800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:180879400-180880800	Enhancers	Fetal Stomach	stomach
22	chr1:180879400-180881000	Enhancers	Left Ventricle	heart
23	chr1:180879600-180880600	Enhancers	Fetal Muscle Leg	muscle
24	chr1:180879800-180880600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:180879800-180880800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:180879800-180880800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:180879800-180880800	Enhancers	Colon Smooth Muscle	Colon
28	chr1:180879800-180880800	Enhancers	Rectal Smooth Muscle	rectum
29	chr1:180880000-180880600	Enhancers	Fetal Muscle Trunk	muscle
30	chr1:180880000-180880600	Enhancers	Osteobl	bone
31	chr1:180880000-180880800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:180880000-180880800	Enhancers	Brain Cingulate Gyrus	brain
33	chr1:180880000-180880800	Enhancers	Brain Substantia Nigra	brain
34	chr1:180880000-180880800	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr1:180880000-180881000	Weak transcription	GM12878-XiMat	blood
36	chr1:180880000-180881200	Bivalent Enhancer	Fetal Thymus	thymus
37	chr1:180880200-180880400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:180880200-180881000	Enhancers	Placenta	Placenta

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