Variant report

Variant	rs2858224
Chromosome Location	chr22:33021961-33021962
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:33016718..33020351-chr22:33021844..33025503,4	K562	blood:
2	chr22:32955831..32960274-chr22:33021346..33026373,8	MCF-7	breast:
3	chr22:33021627..33024969-chr22:33195694..33198618,3	MCF-7	breast:
4	chr22:33015941..33022634-chr22:33022783..33027992,6	MCF-7	breast:
5	chr22:32957485..32959832-chr22:33020527..33022697,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100234	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs131067	0.89[YRI][hapmap];0.81[AFR][1000 genomes]
rs131068	1.00[JPT][hapmap]
rs1964184	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2051568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2710347	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2710358	1.00[JPT][hapmap]
rs2710393	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2710394	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2858228	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2858744	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5994593	0.93[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8136355	1.00[JPT][hapmap]

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	nsv1055541	chr22:33006967-33101138	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2762119	chr22:33006967-33101150	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1061824	chr22:33013014-33101138	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33014200-33022200	Weak transcription	Small Intestine	intestine
2	chr22:33017000-33022600	Enhancers	Fetal Lung	lung
3	chr22:33017000-33022600	Enhancers	Right Atrium	heart
4	chr22:33017000-33025800	Enhancers	Left Ventricle	heart
5	chr22:33017000-33025800	Enhancers	Spleen	Spleen
6	chr22:33017000-33027200	Enhancers	Placenta	Placenta
7	chr22:33017800-33022200	Weak transcription	Psoas Muscle	Psoas
8	chr22:33017800-33022200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr22:33018400-33025800	Enhancers	Adipose Nuclei	Adipose
10	chr22:33018600-33023800	Enhancers	Hela-S3	cervix
11	chr22:33019000-33022200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr22:33019000-33022600	Weak transcription	Fetal Thymus	thymus
13	chr22:33019000-33023400	Weak transcription	Brain Anterior Caudate	brain
14	chr22:33019000-33023600	Enhancers	Lung	lung
15	chr22:33019200-33022000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr22:33019200-33022400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr22:33019200-33024800	Enhancers	HepG2	liver
18	chr22:33019400-33022200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr22:33019600-33024800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr22:33019800-33024400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr22:33019800-33025200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr22:33020000-33023200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:33020200-33024400	Weak transcription	Fetal Intestine Small	intestine
24	chr22:33020400-33022000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr22:33020400-33022000	Weak transcription	NHDF-Ad	bronchial
26	chr22:33020400-33024200	Weak transcription	Liver	Liver
27	chr22:33020600-33022000	Weak transcription	Colonic Mucosa	Colon
28	chr22:33020600-33023200	Weak transcription	Fetal Kidney	kidney
29	chr22:33020600-33030200	Weak transcription	Colon Smooth Muscle	Colon
30	chr22:33020800-33022000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr22:33020800-33022000	Weak transcription	Ovary	ovary
32	chr22:33021000-33022000	Weak transcription	Fetal Muscle Leg	muscle
33	chr22:33021000-33022200	Weak transcription	Fetal Stomach	stomach
34	chr22:33021000-33022600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr22:33021000-33024200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr22:33021200-33022400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr22:33021400-33022200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr22:33021400-33023600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
39	chr22:33021400-33025800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr22:33021600-33022400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr22:33021600-33022800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
42	chr22:33021800-33022000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr22:33021800-33022400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr22:33021800-33025200	Enhancers	Right Ventricle	heart

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