Variant report

Variant	rs5994374
Chromosome Location	chr22:31531448-31531449
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:

Variant related genes	Relation type
ENSG00000198832	Chromatin interaction
ENSG00000100078	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11089483	1.00[EUR][1000 genomes]
rs12158256	1.00[EUR][1000 genomes]
rs12158662	1.00[EUR][1000 genomes]
rs12166075	1.00[EUR][1000 genomes]
rs12166797	1.00[EUR][1000 genomes]
rs12167130	1.00[EUR][1000 genomes]
rs12168605	1.00[EUR][1000 genomes]
rs12170790	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13433649	1.00[EUR][1000 genomes]
rs16989230	1.00[EUR][1000 genomes]
rs2232171	1.00[EUR][1000 genomes]
rs2232180	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28428739	1.00[EUR][1000 genomes]
rs35239241	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56686418	1.00[EUR][1000 genomes]
rs5997890	1.00[EUR][1000 genomes]
rs5997936	1.00[EUR][1000 genomes]
rs61736799	1.00[EUR][1000 genomes]
rs9619152	1.00[EUR][1000 genomes]
rs9619154	1.00[EUR][1000 genomes]
rs9621131	1.00[EUR][1000 genomes]
rs9621146	1.00[EUR][1000 genomes]
rs9621150	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	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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31519200-31532600	Weak transcription	Ovary	ovary
2	chr22:31519400-31535400	Weak transcription	Lung	lung
3	chr22:31519600-31536000	Weak transcription	Brain Germinal Matrix	brain
4	chr22:31519800-31531600	Weak transcription	Brain Anterior Caudate	brain
5	chr22:31519800-31532000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr22:31519800-31532800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr22:31519800-31536000	Weak transcription	Gastric	stomach
8	chr22:31520000-31533200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr22:31520200-31535800	Weak transcription	Fetal Brain Female	brain
10	chr22:31520400-31538800	Weak transcription	Right Atrium	heart
11	chr22:31520800-31532000	Strong transcription	Fetal Intestine Small	intestine
12	chr22:31522800-31535200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr22:31523400-31535600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr22:31523800-31535200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr22:31524600-31533000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr22:31524600-31536000	Weak transcription	Right Ventricle	heart
17	chr22:31524800-31532200	Weak transcription	Fetal Intestine Large	intestine
18	chr22:31524800-31533000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr22:31524800-31536400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr22:31527600-31534400	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr22:31528000-31534000	Weak transcription	Stomach Mucosa	stomach
22	chr22:31528000-31535000	Weak transcription	Esophagus	oesophagus
23	chr22:31528000-31536000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr22:31528200-31534000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr22:31528200-31534600	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr22:31528200-31536400	Weak transcription	Pancreas	Pancrea
27	chr22:31528800-31531800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr22:31528800-31533800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr22:31529000-31533600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr22:31529000-31534200	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr22:31529000-31535600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr22:31529600-31534000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr22:31529800-31532800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr22:31529800-31535400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr22:31530000-31533400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr22:31530000-31534600	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr22:31530400-31532200	Weak transcription	Fetal Stomach	stomach
38	chr22:31530400-31533400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr22:31530400-31538400	Weak transcription	Left Ventricle	heart
40	chr22:31530600-31532800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr22:31531200-31532000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr22:31531200-31532000	Enhancers	HepG2	liver
43	chr22:31531400-31531600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr22:31531400-31531800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr22:31531400-31531800	Enhancers	Spleen	Spleen

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