Variant report

Variant	rs2232184
Chromosome Location	chr22:31532608-31532609
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31529812..31532616-chr22:31699068..31700741,2	MCF-7	breast:
2	chr22:31500500..31502455-chr22:31531349..31533865,2	MCF-7	breast:
3	chr22:31531032..31533565-chr22:31534387..31537694,4	MCF-7	breast:
4	chr22:31530526..31533633-chr22:31534058..31538042,3	K562	blood:
5	chr22:31531854..31533633-chr22:31534058..31536895,2	K562	blood:
6	chr22:31481783..31484078-chr22:31531762..31533536,2	K562	blood:

Variant related genes	Relation type
ENSG00000198832	Chromatin interaction
ENSG00000183963	Chromatin interaction
ENSG00000100078	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs3788427	0.91[AMR][1000 genomes]
rs8135641	0.83[CHD][hapmap];0.93[GIH][hapmap];0.84[TSI][hapmap];0.94[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9621190	0.91[AMR][1000 genomes]
rs9621195	0.88[AMR][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	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31519400-31535400	Weak transcription	Lung	lung
2	chr22:31519600-31536000	Weak transcription	Brain Germinal Matrix	brain
3	chr22:31519800-31532800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr22:31519800-31536000	Weak transcription	Gastric	stomach
5	chr22:31520000-31533200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr22:31520200-31535800	Weak transcription	Fetal Brain Female	brain
7	chr22:31520400-31538800	Weak transcription	Right Atrium	heart
8	chr22:31522800-31535200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr22:31523400-31535600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr22:31523800-31535200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr22:31524600-31533000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr22:31524600-31536000	Weak transcription	Right Ventricle	heart
13	chr22:31524800-31533000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr22:31524800-31536400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr22:31527600-31534400	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr22:31528000-31534000	Weak transcription	Stomach Mucosa	stomach
17	chr22:31528000-31535000	Weak transcription	Esophagus	oesophagus
18	chr22:31528000-31536000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr22:31528200-31534000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr22:31528200-31534600	Strong transcription	H9 Cell Line	embryonic stem cell
21	chr22:31528200-31536400	Weak transcription	Pancreas	Pancrea
22	chr22:31528800-31533800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr22:31529000-31533600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr22:31529000-31534200	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr22:31529000-31535600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr22:31529600-31534000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr22:31529800-31532800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr22:31529800-31535400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr22:31530000-31533400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr22:31530000-31534600	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr22:31530400-31533400	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr22:31530400-31538400	Weak transcription	Left Ventricle	heart
33	chr22:31530600-31532800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr22:31531800-31534400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr22:31532000-31532800	Bivalent Enhancer	HepG2	liver
36	chr22:31532000-31534600	Weak transcription	Fetal Intestine Small	intestine
37	chr22:31532400-31534000	Weak transcription	Spleen	Spleen
38	chr22:31532600-31533000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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