Variant report

Variant	rs5754250
Chromosome Location	chr22:33151251-33151252
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:33012442..33015422-chr22:33150856..33153115,2	MCF-7	breast:
2	chr22:33139149..33141929-chr22:33149411..33151571,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11703156	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs11703906	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11704023	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs137501	1.00[CHB][hapmap]
rs1427377	1.00[CHB][hapmap]
rs1427378	1.00[CHB][hapmap]
rs2013564	0.90[ASN][1000 genomes]
rs2040437	1.00[CHB][hapmap]
rs2267184	1.00[CHB][hapmap]
rs2267185	1.00[CHB][hapmap]
rs5749473	1.00[ASW][hapmap]
rs5749512	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs5749524	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs5754266	1.00[JPT][hapmap]
rs5754280	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs5754281	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5754288	0.87[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs62232904	0.82[ASN][1000 genomes]
rs713685	1.00[ASW][hapmap];0.87[CEU][hapmap];0.82[MEX][hapmap]
rs7289098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs737088	0.87[CEU][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs80689	1.00[CHB][hapmap]
rs933255	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064719	chr22:33028891-33159636	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33148000-33151400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr22:33148600-33151400	Enhancers	Fetal Muscle Leg	muscle
3	chr22:33148600-33151600	Enhancers	Adipose Nuclei	Adipose
4	chr22:33149000-33151600	Enhancers	Fetal Intestine Small	intestine
5	chr22:33149200-33151800	Enhancers	Fetal Intestine Large	intestine
6	chr22:33149200-33153400	Weak transcription	Fetal Thymus	thymus
7	chr22:33149200-33157200	Weak transcription	NHLF	lung
8	chr22:33149400-33152600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr22:33149400-33156600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr22:33149400-33157400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr22:33149600-33156400	Weak transcription	Placenta	Placenta
12	chr22:33149600-33157000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr22:33150000-33151400	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr22:33150200-33151400	Enhancers	NHDF-Ad	bronchial
15	chr22:33150200-33151600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr22:33150400-33151800	Enhancers	Left Ventricle	heart
17	chr22:33150600-33151400	Enhancers	Spleen	Spleen
18	chr22:33150600-33151800	Enhancers	Right Atrium	heart
19	chr22:33150800-33151800	Enhancers	HepG2	liver
20	chr22:33150800-33155000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr22:33151000-33151600	Enhancers	Hela-S3	cervix
22	chr22:33151000-33152200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr22:33151000-33156600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr22:33151000-33156600	Weak transcription	Fetal Stomach	stomach
25	chr22:33151000-33158000	Weak transcription	Right Ventricle	heart
26	chr22:33151000-33175400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr22:33151200-33151400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr22:33151200-33151400	Enhancers	Duodenum Mucosa	Duodenum
29	chr22:33151200-33151400	Active TSS	Pancreas	Pancrea
30	chr22:33151200-33154600	Weak transcription	HSMM	muscle
31	chr22:33151200-33154800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr22:33151200-33154800	Weak transcription	HSMMtube	muscle
33	chr22:33151200-33155000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr22:33151200-33156200	Weak transcription	Lung	lung
35	chr22:33151200-33156400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr22:33151200-33156400	Weak transcription	Osteobl	bone
37	chr22:33151200-33156600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr22:33151200-33157000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr22:33151200-33157000	Weak transcription	NH-A	brain

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