Variant report

Variant	rs7287472
Chromosome Location	chr22:30390548-30390549
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30231401..30237558-chr22:30387473..30391733,6	MCF-7	breast:
2	chr22:30210116..30212715-chr22:30390306..30391990,2	MCF-7	breast:
3	chr22:30388182..30392809-chr22:30393222..30398050,6	K562	blood:
4	chr22:30388710..30391580-chr22:30397983..30401344,3	MCF-7	breast:
5	chr22:30388182..30391432-chr22:30393585..30396816,3	K562	blood:
6	chr22:30167923..30168835-chr22:30389466..30390580,4	MCF-7	breast:
7	chr22:30194011..30196318-chr22:30389051..30390568,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100325	Chromatin interaction
ENSG00000100330	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs58158427	1.00[AFR][1000 genomes]
rs6006287	1.00[AFR][1000 genomes]
rs6006388	1.00[YRI][hapmap]
rs7284772	1.00[AFR][1000 genomes]
rs7286610	1.00[AFR][1000 genomes]
rs7287547	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7289121	1.00[AFR][1000 genomes]
rs7290334	1.00[AFR][1000 genomes]
rs7290601	1.00[AFR][1000 genomes]
rs7290936	1.00[AFR][1000 genomes]
rs7291270	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7291597	1.00[AFR][1000 genomes]
rs7291748	1.00[AFR][1000 genomes]
rs7291902	1.00[AFR][1000 genomes]
rs7292072	1.00[AFR][1000 genomes]
rs7293189	1.00[AFR][1000 genomes]
rs73162767	1.00[AFR][1000 genomes]
rs9754503	1.00[YRI][hapmap];1.00[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	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30350600-30402600	Weak transcription	Aorta	Aorta
2	chr22:30363400-30427800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr22:30366600-30390800	Weak transcription	Gastric	stomach
4	chr22:30367000-30426600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr22:30367400-30397800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr22:30370000-30391000	Weak transcription	Fetal Heart	heart
7	chr22:30370600-30390800	Weak transcription	Right Ventricle	heart
8	chr22:30373800-30391400	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr22:30375200-30403200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr22:30375400-30390800	Weak transcription	Pancreas	Pancrea
11	chr22:30376200-30394800	Weak transcription	GM12878-XiMat	blood
12	chr22:30377600-30402800	Weak transcription	Fetal Brain Male	brain
13	chr22:30378200-30398800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr22:30378400-30391400	Strong transcription	Primary B cells from peripheral blood	blood
15	chr22:30379200-30391200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr22:30379800-30390800	Weak transcription	Esophagus	oesophagus
17	chr22:30380800-30391800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr22:30381000-30397600	Weak transcription	Fetal Kidney	kidney
19	chr22:30382000-30390600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr22:30382600-30392000	Strong transcription	Primary T cells from cord blood	blood
21	chr22:30383800-30391600	Strong transcription	Primary B cells from cord blood	blood
22	chr22:30384200-30391000	Weak transcription	Brain Substantia Nigra	brain
23	chr22:30384200-30398400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr22:30384200-30403800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr22:30384400-30393400	Weak transcription	Brain Hippocampus Middle	brain
26	chr22:30384400-30404000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr22:30384800-30390800	Strong transcription	Primary hematopoietic stem cells	blood
28	chr22:30385000-30390600	Strong transcription	Placenta	Placenta
29	chr22:30385000-30404000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr22:30386200-30402600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr22:30386600-30390800	Strong transcription	Adipose Nuclei	Adipose
32	chr22:30386600-30391200	Strong transcription	Fetal Muscle Trunk	muscle
33	chr22:30386800-30390600	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr22:30386800-30391000	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr22:30387200-30390800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr22:30387400-30390800	Strong transcription	Fetal Muscle Leg	muscle
37	chr22:30387400-30391000	Strong transcription	Fetal Thymus	thymus
38	chr22:30387600-30391400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr22:30388000-30390800	Weak transcription	Brain Anterior Caudate	brain
40	chr22:30388000-30390800	Weak transcription	Fetal Intestine Large	intestine
41	chr22:30388000-30394400	Weak transcription	Lung	lung
42	chr22:30388000-30394600	Weak transcription	Fetal Lung	lung
43	chr22:30388000-30398400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr22:30388200-30390800	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr22:30388200-30391800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr22:30388200-30392200	Enhancers	HMEC	breast
47	chr22:30388400-30391000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr22:30388400-30391800	Enhancers	NH-A	brain
49	chr22:30388400-30392200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr22:30388400-30392200	Enhancers	Muscle Satellite Cultured Cells	--

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