Variant report

Variant	rs5997851
Chromosome Location	chr22:31436024-31436025
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31421824..31424630-chr22:31434408..31437079,3	K562	blood:
2	chr22:31430301..31432681-chr22:31434506..31436861,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs12157617	1.00[AMR][1000 genomes]
rs12159317	1.00[AMR][1000 genomes]
rs5994364	1.00[AMR][1000 genomes]
rs5997831	1.00[AMR][1000 genomes]
rs5997832	1.00[AMR][1000 genomes]
rs5997834	1.00[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	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31431800-31437200	Enhancers	Fetal Stomach	stomach
2	chr22:31432600-31436800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr22:31433000-31440200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:31433000-31440200	Weak transcription	Right Atrium	heart
5	chr22:31433200-31436600	Enhancers	Fetal Muscle Leg	muscle
6	chr22:31433400-31436200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr22:31433400-31440200	Weak transcription	Lung	lung
8	chr22:31433600-31436600	Enhancers	Rectal Smooth Muscle	rectum
9	chr22:31433600-31437000	Enhancers	Colon Smooth Muscle	Colon
10	chr22:31433600-31440200	Weak transcription	Fetal Intestine Large	intestine
11	chr22:31433600-31441400	Weak transcription	Spleen	Spleen
12	chr22:31433600-31442200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr22:31433600-31442600	Weak transcription	HSMM	muscle
14	chr22:31433800-31446000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr22:31434200-31436600	Enhancers	Ovary	ovary
16	chr22:31434600-31440200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr22:31434800-31436200	Enhancers	NHLF	lung
18	chr22:31435200-31440200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr22:31435600-31436200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr22:31435800-31436200	Enhancers	NHDF-Ad	bronchial
21	chr22:31435800-31437800	Enhancers	HepG2	liver
22	chr22:31435800-31440200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr22:31435800-31440400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr22:31436000-31437600	Enhancers	Stomach Smooth Muscle	stomach
25	chr22:31436000-31440200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr22:31436000-31440200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr22:31436000-31440200	Weak transcription	Left Ventricle	heart
28	chr22:31436000-31440200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr22:31436000-31440200	Weak transcription	Osteobl	bone
30	chr22:31436000-31441400	Weak transcription	Colonic Mucosa	Colon
31	chr22:31436000-31441800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr22:31436000-31442200	Weak transcription	Placenta	Placenta

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