Variant report

Variant	rs12170438
Chromosome Location	chr22:34296265-34296266
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:34293649..34297424-chr22:34310921..34313948,3	MCF-7	breast:
2	chr22:34279207..34280839-chr22:34295025..34297477,2	MCF-7	breast:
3	chr22:34296231..34298036-chr22:34317275..34319526,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273082	Chromatin interaction
ENSG00000133424	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12157658	1.00[EUR][1000 genomes]
rs16993101	1.00[EUR][1000 genomes]
rs16993223	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1061736	chr22:34178034-34394918	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv544689	chr22:34178034-34394918	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1066419	chr22:34231732-34553006	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv544690	chr22:34231732-34553006	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3343210	chr22:34236744-34404210	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv588938	chr22:34270568-34307875	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34286400-34296600	Weak transcription	Adipose Nuclei	Adipose
2	chr22:34287800-34298600	Enhancers	H9 Cell Line	embryonic stem cell
3	chr22:34287800-34299000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr22:34288200-34303000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr22:34289800-34296400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr22:34289800-34299200	Enhancers	Right Ventricle	heart
7	chr22:34290200-34303800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr22:34291000-34304200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr22:34291200-34304200	Weak transcription	Brain Anterior Caudate	brain
10	chr22:34291200-34312800	Weak transcription	HepG2	liver
11	chr22:34291600-34303400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr22:34291800-34297800	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr22:34291800-34305000	Weak transcription	Fetal Intestine Small	intestine
14	chr22:34291800-34313800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr22:34292000-34296600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr22:34292000-34304000	Weak transcription	Fetal Stomach	stomach
17	chr22:34292400-34297600	Enhancers	Right Atrium	heart
18	chr22:34292400-34299200	Enhancers	Ovary	ovary
19	chr22:34292600-34297400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr22:34292800-34296600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr22:34292800-34299200	Enhancers	Left Ventricle	heart
22	chr22:34293600-34298000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr22:34293600-34299200	Enhancers	Fetal Heart	heart
24	chr22:34293600-34300400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr22:34293600-34300600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr22:34293800-34297200	Weak transcription	Gastric	stomach
27	chr22:34293800-34298000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr22:34293800-34298400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr22:34293800-34298800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr22:34293800-34306200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr22:34293800-34315000	Weak transcription	Pancreas	Pancrea
32	chr22:34294000-34296600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr22:34294200-34298600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr22:34294200-34298800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr22:34294200-34300000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr22:34294200-34310400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr22:34294800-34296800	Enhancers	Brain Angular Gyrus	brain
38	chr22:34294800-34297400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr22:34295000-34296600	Enhancers	Stomach Smooth Muscle	stomach
40	chr22:34295600-34296400	Enhancers	Brain Cingulate Gyrus	brain
41	chr22:34295600-34296400	Enhancers	Brain Hippocampus Middle	brain
42	chr22:34295600-34296400	Enhancers	Rectal Smooth Muscle	rectum
43	chr22:34295600-34296600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr22:34295600-34298600	Enhancers	Colon Smooth Muscle	Colon
45	chr22:34295800-34298200	Weak transcription	Lung	lung
46	chr22:34295800-34304000	Weak transcription	GM12878-XiMat	blood
47	chr22:34296000-34298400	Enhancers	Psoas Muscle	Psoas
48	chr22:34296000-34304800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr22:34296000-34304800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr22:34296200-34296400	Enhancers	Esophagus	oesophagus

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