Variant report

Variant	rs56662554
Chromosome Location	chr22:29306446-29306447
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29298276..29299796-chr22:29305846..29307998,2	MCF-7	breast:
2	chr22:29300472..29303069-chr22:29304300..29306897,2	K562	blood:
3	chr22:29300330..29301972-chr22:29304300..29306887,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs58174942	1.00[AMR][1000 genomes]
rs59677997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61162472	1.00[AMR][1000 genomes]
rs61262861	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7286589	1.00[AMR][1000 genomes]
rs73388832	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73388848	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73388889	1.00[AMR][1000 genomes]
rs73390897	1.00[AMR][1000 genomes]
rs73393032	1.00[AMR][1000 genomes]
rs73393045	1.00[AMR][1000 genomes]
rs73395867	1.00[AMR][1000 genomes]
rs73397795	1.00[AMR][1000 genomes]
rs73397802	1.00[AMR][1000 genomes]
rs73399604	1.00[AMR][1000 genomes]
rs73399643	1.00[AMR][1000 genomes]
rs73403430	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	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29296800-29310200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr22:29298400-29308400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr22:29298400-29310400	Enhancers	Fetal Intestine Large	intestine
4	chr22:29299000-29309200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr22:29299600-29307000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr22:29300000-29307600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr22:29300800-29307000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr22:29300800-29307400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr22:29300800-29307600	Weak transcription	Small Intestine	intestine
10	chr22:29301000-29306800	Weak transcription	NHLF	lung
11	chr22:29301200-29306600	Weak transcription	Adipose Nuclei	Adipose
12	chr22:29301400-29306600	Weak transcription	Fetal Stomach	stomach
13	chr22:29301400-29306800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr22:29301400-29306800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr22:29301800-29306600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr22:29301800-29307200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr22:29302000-29307400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr22:29302400-29307000	Weak transcription	Psoas Muscle	Psoas
19	chr22:29302600-29306600	Weak transcription	Right Atrium	heart
20	chr22:29302800-29306800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr22:29303200-29306600	Enhancers	Gastric	stomach
22	chr22:29303600-29306600	Enhancers	Fetal Intestine Small	intestine
23	chr22:29303800-29306600	Weak transcription	Aorta	Aorta
24	chr22:29303800-29306600	Weak transcription	Pancreas	Pancrea
25	chr22:29303800-29307000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr22:29303800-29307000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr22:29303800-29307600	Weak transcription	HSMMtube	muscle
28	chr22:29303800-29313200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr22:29304000-29307600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr22:29304400-29306600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr22:29304400-29306600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr22:29304400-29306600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr22:29304400-29307200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr22:29304400-29307800	Weak transcription	HSMM	muscle
35	chr22:29304400-29309400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:29304400-29312400	Weak transcription	Fetal Brain Female	brain
37	chr22:29304400-29312600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr22:29304600-29306600	Weak transcription	Left Ventricle	heart
39	chr22:29304600-29306800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr22:29304600-29306800	Enhancers	HepG2	liver
41	chr22:29304600-29307200	Weak transcription	Fetal Kidney	kidney
42	chr22:29304600-29312600	Weak transcription	Fetal Brain Male	brain
43	chr22:29304600-29313000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr22:29304800-29307800	Weak transcription	Brain Germinal Matrix	brain
45	chr22:29304800-29313800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr22:29305000-29306600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr22:29305000-29306600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr22:29305000-29307000	Weak transcription	Brain Anterior Caudate	brain
49	chr22:29305000-29312600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr22:29305000-29313600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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