Variant report

Variant	rs73022921
Chromosome Location	chr2:172282337-172282338
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172271841..172274486-chr2:172281833..172284953,3	K562	blood:
2	chr2:172282044..172287208-chr2:172288803..172293101,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123600	Chromatin interaction
ENSG00000115827	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs16859392	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs16859394	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs57396064	0.98[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs57999878	0.80[AFR][1000 genomes]
rs58033547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58560571	0.82[AFR][1000 genomes]
rs58796565	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs59745257	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs59886446	0.90[AFR][1000 genomes]
rs60100357	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs60837517	0.82[AFR][1000 genomes]
rs61731491	0.90[AFR][1000 genomes]
rs62183501	0.80[AFR][1000 genomes]
rs66525413	0.90[AFR][1000 genomes]
rs73021082	0.90[AFR][1000 genomes]
rs73022904	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73022907	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73022930	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73022949	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7563499	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7564602	0.82[AFR][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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv3349868	chr2:172276494-172302401	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172222200-172289600	Weak transcription	Gastric	stomach
2	chr2:172266400-172289600	Weak transcription	Psoas Muscle	Psoas
3	chr2:172266400-172289600	Weak transcription	Right Ventricle	heart
4	chr2:172268800-172289200	Weak transcription	HSMM	muscle
5	chr2:172272600-172287200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:172272600-172289000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:172272600-172289400	Weak transcription	HSMMtube	muscle
8	chr2:172273000-172283600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:172278000-172288600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:172278200-172289600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:172279200-172282400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr2:172279200-172284200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:172279400-172282400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:172279400-172282400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:172279400-172282400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
16	chr2:172280000-172282400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
17	chr2:172280600-172287800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:172280600-172289600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:172280800-172282400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr2:172280800-172282400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:172281000-172285000	Weak transcription	Fetal Intestine Large	intestine
22	chr2:172281000-172287200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:172281000-172287400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:172281000-172289600	Weak transcription	Left Ventricle	heart
25	chr2:172281000-172289600	Weak transcription	Right Atrium	heart
26	chr2:172281000-172290200	Weak transcription	Aorta	Aorta
27	chr2:172281200-172290000	Weak transcription	Ovary	ovary
28	chr2:172281600-172282400	ZNF genes & repeats	NHEK	skin
29	chr2:172281600-172288000	ZNF genes & repeats	GM12878-XiMat	blood
30	chr2:172281600-172289400	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr2:172281800-172282400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:172281800-172282400	ZNF genes & repeats	A549	lung
33	chr2:172281800-172282400	ZNF genes & repeats	Dnd41	blood
34	chr2:172281800-172282400	ZNF genes & repeats	HepG2	liver
35	chr2:172282000-172282400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
36	chr2:172282000-172287400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:172282200-172283400	Weak transcription	K562	blood
38	chr2:172282200-172283600	Weak transcription	Primary B cells from cord blood	blood
39	chr2:172282200-172283800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:172282200-172286800	Weak transcription	Fetal Intestine Small	intestine
41	chr2:172282200-172287000	Weak transcription	Fetal Muscle Leg	muscle
42	chr2:172282200-172287000	Weak transcription	HMEC	breast
43	chr2:172282200-172287200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:172282200-172287200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr2:172282200-172287200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:172282200-172287400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:172282200-172287400	Weak transcription	Esophagus	oesophagus
48	chr2:172282200-172287600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr2:172282200-172288400	Weak transcription	Fetal Lung	lung
50	chr2:172282200-172288600	Weak transcription	Fetal Muscle Trunk	muscle

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