Variant report

Variant	rs12485025
Chromosome Location	chr22:31524546-31524547
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31522240..31525129-chr22:31533508..31536686,3	K562	blood:
2	chr22:31524034..31525949-chr22:31528212..31530810,2	MCF-7	breast:
3	chr22:31522608..31525129-chr22:31534842..31536686,3	K562	blood:
4	chr22:31516152..31519079-chr22:31523414..31526420,3	MCF-7	breast:
5	chr22:31502491..31504083-chr22:31522492..31525469,2	K562	blood:

Variant related genes	Relation type
ENSG00000185133	Chromatin interaction
ENSG00000198832	Chromatin interaction
ENSG00000100078	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11703526	1.00[LWK][hapmap];1.00[MEX][hapmap]

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	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv914976	chr22:31475307-31543260	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31519200-31527600	Weak transcription	Esophagus	oesophagus
2	chr22:31519200-31532600	Weak transcription	Ovary	ovary
3	chr22:31519400-31535400	Weak transcription	Lung	lung
4	chr22:31519600-31536000	Weak transcription	Brain Germinal Matrix	brain
5	chr22:31519800-31525600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr22:31519800-31527600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr22:31519800-31528800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:31519800-31531600	Weak transcription	Brain Anterior Caudate	brain
9	chr22:31519800-31532000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr22:31519800-31532800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr22:31519800-31536000	Weak transcription	Gastric	stomach
12	chr22:31520000-31527600	Weak transcription	Stomach Mucosa	stomach
13	chr22:31520000-31531200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr22:31520000-31533200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr22:31520200-31535800	Weak transcription	Fetal Brain Female	brain
16	chr22:31520400-31538800	Weak transcription	Right Atrium	heart
17	chr22:31520800-31532000	Strong transcription	Fetal Intestine Small	intestine
18	chr22:31521200-31526800	Weak transcription	Pancreas	Pancrea
19	chr22:31522400-31524800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr22:31522600-31524800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr22:31522800-31524600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr22:31522800-31535200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr22:31523000-31530600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr22:31523400-31535600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr22:31523600-31524600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr22:31523600-31524600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr22:31523600-31528200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr22:31523600-31529200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr22:31523600-31530200	Weak transcription	Colonic Mucosa	Colon
30	chr22:31523800-31524600	Enhancers	HepG2	liver
31	chr22:31523800-31526600	Weak transcription	Placenta	Placenta
32	chr22:31523800-31529000	Weak transcription	Fetal Stomach	stomach
33	chr22:31523800-31535200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr22:31524000-31524600	Strong transcription	Right Ventricle	heart
35	chr22:31524000-31524800	Strong transcription	Duodenum Mucosa	Duodenum
36	chr22:31524000-31524800	Strong transcription	Fetal Intestine Large	intestine
37	chr22:31524000-31524800	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr22:31524200-31524600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr22:31524200-31524800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr22:31524200-31524800	Strong transcription	Left Ventricle	heart
41	chr22:31524200-31524800	Strong transcription	Stomach Smooth Muscle	stomach
42	chr22:31524200-31524800	Enhancers	K562	blood
43	chr22:31524200-31527600	Weak transcription	Spleen	Spleen
44	chr22:31524200-31529000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr22:31524200-31530000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr22:31524400-31524600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr22:31524400-31524800	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr22:31524400-31527600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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