Variant report

Variant	rs5749473
Chromosome Location	chr22:33020619-33020620
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:33014781..33017660-chr22:33019637..33021375,2	MCF-7	breast:
2	chr22:33015941..33022634-chr22:33022783..33027992,6	MCF-7	breast:
3	chr22:32957485..32959832-chr22:33020527..33022697,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs5754250	1.00[ASW][hapmap]
rs713685	1.00[ASW][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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33014200-33022200	Weak transcription	Small Intestine	intestine
2	chr22:33017000-33021000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr22:33017000-33021000	Enhancers	Fetal Muscle Leg	muscle
4	chr22:33017000-33021000	Enhancers	Fetal Stomach	stomach
5	chr22:33017000-33022600	Enhancers	Fetal Lung	lung
6	chr22:33017000-33022600	Enhancers	Right Atrium	heart
7	chr22:33017000-33025800	Enhancers	Left Ventricle	heart
8	chr22:33017000-33025800	Enhancers	Spleen	Spleen
9	chr22:33017000-33027200	Enhancers	Placenta	Placenta
10	chr22:33017200-33020800	Enhancers	Ovary	ovary
11	chr22:33017400-33021000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr22:33017800-33020800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr22:33017800-33022200	Weak transcription	Psoas Muscle	Psoas
14	chr22:33017800-33022200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr22:33018400-33021000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr22:33018400-33025800	Enhancers	Adipose Nuclei	Adipose
17	chr22:33018600-33020800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr22:33018600-33020800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr22:33018600-33021400	Enhancers	Fetal Muscle Trunk	muscle
20	chr22:33018600-33021400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr22:33018600-33023800	Enhancers	Hela-S3	cervix
22	chr22:33019000-33022200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr22:33019000-33022600	Weak transcription	Fetal Thymus	thymus
24	chr22:33019000-33023400	Weak transcription	Brain Anterior Caudate	brain
25	chr22:33019000-33023600	Enhancers	Lung	lung
26	chr22:33019200-33022000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr22:33019200-33022400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr22:33019200-33024800	Enhancers	HepG2	liver
29	chr22:33019400-33022200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr22:33019600-33021000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
31	chr22:33019600-33024800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr22:33019800-33020800	Enhancers	HMEC	breast
33	chr22:33019800-33024400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr22:33019800-33025200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr22:33020000-33023200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:33020200-33020800	Enhancers	Esophagus	oesophagus
37	chr22:33020200-33024400	Weak transcription	Fetal Intestine Small	intestine
38	chr22:33020400-33022000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr22:33020400-33022000	Weak transcription	NHDF-Ad	bronchial
40	chr22:33020400-33024200	Weak transcription	Liver	Liver
41	chr22:33020600-33021600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr22:33020600-33021800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr22:33020600-33021800	Weak transcription	Right Ventricle	heart
44	chr22:33020600-33022000	Weak transcription	Colonic Mucosa	Colon
45	chr22:33020600-33023200	Weak transcription	Fetal Kidney	kidney
46	chr22:33020600-33030200	Weak transcription	Colon Smooth Muscle	Colon

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