Variant report

Variant	rs5997850
Chromosome Location	chr22:31433173-31433174
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31432694..31434751-chr22:31475361..31478726,3	MCF-7	breast:
2	chr22:31431282..31433620-chr22:31481041..31483644,2	MCF-7	breast:
3	chr22:31432694..31433267-chr22:31544706..31545290,2	MCF-7	breast:
4	chr22:31432776..31435079-chr22:31450665..31453170,2	MCF-7	breast:
5	chr22:31431928..31434471-chr22:31449804..31451831,2	MCF-7	breast:
6	chr22:31432480..31433175-chr22:31478482..31479318,2	MCF-7	breast:
7	chr22:31429286..31431329-chr22:31431481..31433428,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183963	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11702887	1.00[CHB][hapmap]
rs11704852	1.00[CHB][hapmap]
rs11704901	1.00[CHB][hapmap]
rs11704907	1.00[CHB][hapmap]
rs12160486	1.00[ASN][1000 genomes]
rs17822214	1.00[CHB][hapmap]
rs34240867	1.00[ASN][1000 genomes]
rs34369042	1.00[ASN][1000 genomes]
rs35988107	1.00[ASN][1000 genomes]
rs41279971	1.00[ASN][1000 genomes]
rs4820031	1.00[ASN][1000 genomes]
rs4820912	1.00[ASN][1000 genomes]
rs4820913	1.00[ASN][1000 genomes]
rs4820914	1.00[ASN][1000 genomes]
rs4820917	1.00[ASN][1000 genomes]
rs4820920	1.00[ASN][1000 genomes]
rs4820931	1.00[ASN][1000 genomes]
rs5994357	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs5994363	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994367	1.00[CHB][hapmap]
rs5997799	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs5997818	1.00[CHB][hapmap];1.00[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	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv966103	chr22:31410201-31452981	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31430000-31434200	Weak transcription	HepG2	liver
2	chr22:31431600-31434600	Enhancers	Fetal Muscle Trunk	muscle
3	chr22:31431800-31433800	Enhancers	Duodenum Mucosa	Duodenum
4	chr22:31431800-31436000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr22:31431800-31437200	Enhancers	Fetal Stomach	stomach
6	chr22:31432000-31433600	Enhancers	Placenta	Placenta
7	chr22:31432400-31433200	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr22:31432400-31433400	Enhancers	Lung	lung
9	chr22:31432400-31433400	Enhancers	HMEC	breast
10	chr22:31432400-31433600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr22:31432400-31433600	Enhancers	Fetal Intestine Large	intestine
12	chr22:31432400-31433600	Enhancers	Fetal Intestine Small	intestine
13	chr22:31432600-31433400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr22:31432600-31433400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr22:31432600-31433400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr22:31432600-31433400	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr22:31432600-31433400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
18	chr22:31432600-31433400	Flanking Active TSS	HSMMtube	muscle
19	chr22:31432600-31433400	Flanking Active TSS	Osteobl	bone
20	chr22:31432600-31433800	Enhancers	Ovary	ovary
21	chr22:31432600-31436800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr22:31432800-31433200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr22:31432800-31433200	Active TSS	Brain Hippocampus Middle	brain
24	chr22:31432800-31433200	Active TSS	Colon Smooth Muscle	Colon
25	chr22:31432800-31433200	Flanking Active TSS	Fetal Muscle Leg	muscle
26	chr22:31432800-31433200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr22:31432800-31433200	Flanking Active TSS	HSMM	muscle
28	chr22:31432800-31433200	Active TSS	NHDF-Ad	bronchial
29	chr22:31432800-31433400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr22:31432800-31433400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
31	chr22:31432800-31433400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr22:31432800-31433400	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr22:31432800-31433400	Flanking Active TSS	NHEK	skin
34	chr22:31432800-31433600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr22:31432800-31433600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr22:31432800-31433600	Enhancers	Fetal Kidney	kidney
37	chr22:31432800-31433600	Flanking Active TSS	Fetal Lung	lung
38	chr22:31432800-31433600	Enhancers	Left Ventricle	heart
39	chr22:31432800-31433600	Enhancers	Placenta Amnion	Placenta Amnion
40	chr22:31432800-31433600	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr22:31432800-31434400	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr22:31433000-31433200	Active TSS	Muscle Satellite Cultured Cells	--
43	chr22:31433000-31433200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr22:31433000-31433200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr22:31433000-31433200	Enhancers	Rectal Smooth Muscle	rectum
46	chr22:31433000-31433200	Active TSS	Stomach Smooth Muscle	stomach
47	chr22:31433000-31433400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr22:31433000-31433400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr22:31433000-31433400	Enhancers	A549	lung
50	chr22:31433000-31433400	Active TSS	NHLF	lung

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