Variant report

Variant	rs2413027
Chromosome Location	chr22:31528932-31528933
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31365312..31368140-chr22:31526556..31529476,2	MCF-7	breast:
2	chr22:31520766..31523892-chr22:31525274..31529920,6	MCF-7	breast:
3	chr22:31525510..31527221-chr22:31528778..31530795,2	K562	blood:
4	chr22:31524034..31525949-chr22:31528212..31530810,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185133	Chromatin interaction
ENSG00000253352	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2229875	1.00[CHB][hapmap]
rs35342535	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35413173	0.80[EUR][1000 genomes]
rs7284757	1.00[CHB][hapmap]
rs740231	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8137317	1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.87[ASN][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:46 , 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	chr22:31520000-31531200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr22:31520000-31533200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr22:31520200-31535800	Weak transcription	Fetal Brain Female	brain
11	chr22:31520400-31538800	Weak transcription	Right Atrium	heart
12	chr22:31520800-31532000	Strong transcription	Fetal Intestine Small	intestine
13	chr22:31522800-31535200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr22:31523000-31530600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr22:31523400-31535600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr22:31523600-31529200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr22:31523600-31530200	Weak transcription	Colonic Mucosa	Colon
18	chr22:31523800-31529000	Weak transcription	Fetal Stomach	stomach
19	chr22:31523800-31535200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr22:31524200-31529000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr22:31524200-31530000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr22:31524600-31529000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr22:31524600-31529000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr22:31524600-31533000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr22:31524600-31536000	Weak transcription	Right Ventricle	heart
26	chr22:31524800-31529800	Weak transcription	Left Ventricle	heart
27	chr22:31524800-31530000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr22:31524800-31531400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr22:31524800-31532200	Weak transcription	Fetal Intestine Large	intestine
30	chr22:31524800-31533000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr22:31524800-31536400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr22:31526800-31529600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr22:31526800-31529800	Strong transcription	Stomach Smooth Muscle	stomach
34	chr22:31527600-31534400	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr22:31528000-31531400	Weak transcription	Spleen	Spleen
36	chr22:31528000-31534000	Weak transcription	Stomach Mucosa	stomach
37	chr22:31528000-31535000	Weak transcription	Esophagus	oesophagus
38	chr22:31528000-31536000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr22:31528200-31529800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr22:31528200-31531200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr22:31528200-31534000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr22:31528200-31534600	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr22:31528200-31536400	Weak transcription	Pancreas	Pancrea
44	chr22:31528800-31529000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr22:31528800-31531800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr22:31528800-31533800	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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