Variant report

Variant	rs130303
Chromosome Location	chr22:33236572-33236573
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:33235139-33240300..22:33339333-33353583	K562	blood:
2	22:33235139-33240300..22:33262063-33266567	K562	blood:

Variant related genes	Relation type
ENSG00000185666	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4504	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5749526	1.00[YRI][hapmap]
rs5749530	1.00[YRI][hapmap]
rs5754280	1.00[YRI][hapmap]
rs5754320	1.00[YRI][hapmap]
rs715572	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv3599	chr22:33230106-33274789	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33211000-33240400	Genic enhancers	Left Ventricle	heart
2	chr22:33217800-33248600	Weak transcription	Gastric	stomach
3	chr22:33222600-33240400	Genic enhancers	Adipose Nuclei	Adipose
4	chr22:33222600-33258800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr22:33222800-33238200	Genic enhancers	Fetal Muscle Leg	muscle
6	chr22:33226600-33238000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr22:33226600-33238400	Enhancers	Fetal Heart	heart
8	chr22:33227000-33272400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr22:33227600-33237200	Strong transcription	HepG2	liver
10	chr22:33227600-33248800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr22:33227600-33249400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr22:33227800-33236800	Weak transcription	Liver	Liver
13	chr22:33227800-33252200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr22:33227800-33253200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr22:33228000-33236800	Weak transcription	Brain Angular Gyrus	brain
16	chr22:33228000-33245000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:33228000-33252200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:33228000-33252600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr22:33228800-33236800	Genic enhancers	Right Ventricle	heart
20	chr22:33231200-33245400	Weak transcription	NHLF	lung
21	chr22:33231800-33240400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr22:33232200-33237400	Enhancers	Rectal Smooth Muscle	rectum
23	chr22:33232200-33239800	Genic enhancers	Fetal Stomach	stomach
24	chr22:33232400-33239200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr22:33232400-33245600	Weak transcription	HSMMtube	muscle
26	chr22:33232600-33237400	Genic enhancers	Fetal Muscle Trunk	muscle
27	chr22:33232600-33237600	Enhancers	Brain Anterior Caudate	brain
28	chr22:33232600-33238400	Genic enhancers	Lung	lung
29	chr22:33233000-33237200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr22:33233000-33239400	Weak transcription	Psoas Muscle	Psoas
31	chr22:33233800-33237000	Enhancers	Ovary	ovary
32	chr22:33233800-33237600	Enhancers	Brain Hippocampus Middle	brain
33	chr22:33234000-33237400	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr22:33234200-33237600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr22:33234200-33238000	Weak transcription	NHEK	skin
36	chr22:33234400-33237400	Enhancers	Colon Smooth Muscle	Colon
37	chr22:33234600-33238800	Weak transcription	HSMM	muscle
38	chr22:33234600-33239600	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr22:33235000-33236600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr22:33235000-33237600	Enhancers	Fetal Lung	lung
41	chr22:33235000-33239400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr22:33235200-33237000	Enhancers	Brain Cingulate Gyrus	brain
43	chr22:33235200-33243800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr22:33235400-33237400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr22:33235400-33237400	Enhancers	Fetal Brain Female	brain
46	chr22:33235400-33237400	Enhancers	Fetal Intestine Large	intestine
47	chr22:33235400-33238200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr22:33235400-33241600	Weak transcription	Esophagus	oesophagus
49	chr22:33235600-33237200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr22:33235600-33237400	Weak transcription	HMEC	breast

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