Variant report

Variant	rs7289482
Chromosome Location	chr22:28283547-28283548
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:28282458..28285409-chr22:28313416..28316132,4	MCF-7	breast:
2	chr22:28262052..28264776-chr22:28281551..28284390,2	MCF-7	breast:
3	chr22:28282766..28284835-chr22:28303057..28305816,2	MCF-7	breast:
4	chr22:28282292..28283627-chr22:28405010..28406031,9	MCF-7	breast:
5	chr22:28278686..28280659-chr22:28281964..28283752,2	K562	blood:
6	chr22:28283009..28285381-chr22:28406270..28408539,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235954	Chromatin interaction
ENSG00000180957	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs7286067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8136547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8137204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8142924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8143058	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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv588878	chr22:28248840-28314113	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28247000-28311800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:28273200-28284800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr22:28273200-28287000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr22:28273800-28283800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr22:28274000-28284200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr22:28277200-28291000	Strong transcription	GM12878-XiMat	blood
7	chr22:28277200-28308600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr22:28277400-28300600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr22:28277600-28284400	Weak transcription	Stomach Mucosa	stomach
10	chr22:28277800-28308400	Strong transcription	Dnd41	blood
11	chr22:28278200-28287000	Weak transcription	Small Intestine	intestine
12	chr22:28278400-28298800	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr22:28278400-28299000	Strong transcription	Primary B cells from peripheral blood	blood
14	chr22:28278600-28299000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr22:28278600-28299600	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr22:28278600-28299800	Strong transcription	Primary T cells from cord blood	blood
17	chr22:28278600-28300600	Strong transcription	Fetal Muscle Leg	muscle
18	chr22:28279000-28299600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr22:28279000-28300000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:28279200-28284800	Weak transcription	Brain Angular Gyrus	brain
21	chr22:28279200-28287000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr22:28279400-28298400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr22:28279600-28284200	Weak transcription	Fetal Brain Female	brain
24	chr22:28279600-28298400	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr22:28279600-28298600	Strong transcription	Primary B cells from cord blood	blood
26	chr22:28279600-28299000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr22:28279800-28292200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr22:28279800-28295400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr22:28280000-28284600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr22:28280200-28284400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr22:28280200-28284600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr22:28280200-28284800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr22:28280400-28284200	Genic enhancers	NHDF-Ad	bronchial
34	chr22:28280400-28287400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr22:28280600-28283800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr22:28280600-28284000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr22:28280600-28284200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr22:28280600-28284200	Weak transcription	HepG2	liver
39	chr22:28280600-28284800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr22:28280600-28284800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr22:28280600-28292200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr22:28280600-28308000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr22:28280800-28284400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr22:28281000-28283800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr22:28281200-28284000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr22:28281200-28289200	Strong transcription	K562	blood
47	chr22:28281400-28283800	Genic enhancers	Muscle Satellite Cultured Cells	--
48	chr22:28281400-28283800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr22:28281600-28298600	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr22:28281600-28308000	Strong transcription	Fetal Muscle Trunk	muscle

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