Variant report

Variant	rs4823016
Chromosome Location	chr22:29546181-29546182
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29464232..29466392-chr22:29545552..29548185,2	K562	blood:
2	chr22:29508205..29511663-chr22:29545622..29548558,3	K562	blood:
3	chr22:29472899..29476008-chr22:29545567..29548841,3	K562	blood:
4	chr22:29545744..29548830-chr22:29599572..29603786,4	K562	blood:
5	chr22:29544270..29547165-chr22:29570652..29572572,2	K562	blood:
6	chr22:29428793..29430315-chr22:29546051..29548231,2	K562	blood:
7	chr22:29458794..29462861-chr22:29545928..29550252,4	K562	blood:

Variant related genes	Relation type
ENSG00000186998	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12628033	0.91[ASN][1000 genomes]
rs12628352	0.91[ASN][1000 genomes]
rs132292	0.91[ASN][1000 genomes]
rs132296	0.91[ASN][1000 genomes]
rs132300	0.89[ASN][1000 genomes]
rs132304	0.92[ASN][1000 genomes]
rs2301445	0.92[ASN][1000 genomes]
rs2301446	0.92[ASN][1000 genomes]
rs2347996	0.92[ASN][1000 genomes]
rs3884934	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4035128	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs469983	0.91[ASN][1000 genomes]
rs4823018	0.91[ASN][1000 genomes]
rs5752871	0.89[ASN][1000 genomes]
rs5763006	0.91[ASN][1000 genomes]
rs9625722	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv817986	chr22:29540297-29568963	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr22:29517200-29546200	Strong transcription	Dnd41	blood
3	chr22:29523400-29548200	Weak transcription	Stomach Mucosa	stomach
4	chr22:29526200-29547000	Weak transcription	K562	blood
5	chr22:29527600-29548000	Strong transcription	Fetal Intestine Small	intestine
6	chr22:29529400-29547000	Strong transcription	Thymus	Thymus
7	chr22:29530800-29546800	Genic enhancers	Fetal Muscle Leg	muscle
8	chr22:29531600-29548400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr22:29536600-29548200	Weak transcription	Fetal Kidney	kidney
10	chr22:29537200-29548200	Weak transcription	Fetal Brain Male	brain
11	chr22:29538400-29547400	Weak transcription	Pancreas	Pancrea
12	chr22:29538400-29548200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr22:29538800-29548000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr22:29539400-29546200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr22:29540000-29548000	Weak transcription	Colon Smooth Muscle	Colon
16	chr22:29540400-29548000	Weak transcription	Lung	lung
17	chr22:29541000-29548200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr22:29541200-29548000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr22:29542000-29548200	Weak transcription	NHDF-Ad	bronchial
20	chr22:29542000-29550400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr22:29542200-29550600	Weak transcription	Gastric	stomach
22	chr22:29542400-29547000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr22:29542400-29547200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr22:29542600-29546800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr22:29543400-29550200	Weak transcription	Liver	Liver
26	chr22:29543600-29546200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr22:29543600-29548200	Weak transcription	Fetal Brain Female	brain
28	chr22:29543800-29546200	Weak transcription	Fetal Thymus	thymus
29	chr22:29543800-29548200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr22:29544200-29550000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr22:29544400-29546200	Weak transcription	Psoas Muscle	Psoas
32	chr22:29544400-29548000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr22:29544400-29550400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr22:29544400-29550400	Weak transcription	Esophagus	oesophagus
35	chr22:29544800-29550800	Enhancers	Placenta	Placenta
36	chr22:29545000-29547600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr22:29545000-29548600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr22:29545400-29546400	Enhancers	Ovary	ovary
39	chr22:29545400-29547000	Enhancers	Brain Cingulate Gyrus	brain
40	chr22:29545400-29547000	Enhancers	Spleen	Spleen
41	chr22:29545400-29547000	Enhancers	HepG2	liver
42	chr22:29545400-29547800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr22:29545400-29548200	Enhancers	Brain Anterior Caudate	brain
44	chr22:29545400-29549000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr22:29545400-29549400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr22:29545400-29551000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr22:29545600-29546200	Enhancers	Fetal Heart	heart
48	chr22:29545600-29546200	Enhancers	Right Atrium	heart
49	chr22:29545600-29546400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr22:29545600-29546400	Enhancers	Right Ventricle	heart

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