Variant report

Variant	rs8142666
Chromosome Location	chr22:30424601-30424602
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	chr22:30422072..30424953-chr22:30431511..30433741,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16988303	0.81[YRI][hapmap]
rs34305723	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4820823	1.00[ASW][hapmap]
rs57618117	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7286437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73883356	1.00[AFR][1000 genomes];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	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30363400-30427800	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr22:30367000-30426600	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr22:30390200-30434200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:30391400-30433000	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr22:30392600-30425000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr22:30393800-30424800	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr22:30394800-30425200	Strong transcription	Fetal Intestine Large	intestine
8	chr22:30394800-30426200	Strong transcription	Placenta	Placenta
9	chr22:30396800-30426200	Strong transcription	Primary B cells from cord blood	blood
10	chr22:30397800-30425400	Strong transcription	Primary B cells from peripheral blood	blood
11	chr22:30398000-30426200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr22:30398400-30425000	Strong transcription	Primary hematopoietic stem cells	blood
13	chr22:30398600-30425200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr22:30401600-30425200	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr22:30402200-30425200	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr22:30402600-30426200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr22:30402800-30425800	Strong transcription	Fetal Muscle Leg	muscle
18	chr22:30403000-30425200	Strong transcription	Stomach Smooth Muscle	stomach
19	chr22:30404400-30426400	Strong transcription	Primary T cells from cord blood	blood
20	chr22:30404800-30426000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr22:30405200-30424800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr22:30405800-30424800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr22:30406000-30426600	Strong transcription	Thymus	Thymus
24	chr22:30406200-30425200	Strong transcription	Fetal Thymus	thymus
25	chr22:30407800-30425200	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr22:30408000-30425800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr22:30408200-30425000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr22:30408400-30425800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr22:30409000-30432800	Strong transcription	Fetal Stomach	stomach
30	chr22:30410600-30424800	Strong transcription	Colonic Mucosa	Colon
31	chr22:30412000-30431200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr22:30413600-30425600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr22:30414200-30425200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr22:30415000-30425200	Strong transcription	NHLF	lung
35	chr22:30415000-30425800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr22:30415200-30424800	Strong transcription	Aorta	Aorta
37	chr22:30415200-30425000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr22:30415800-30425200	Strong transcription	Fetal Lung	lung
39	chr22:30416400-30427200	Weak transcription	K562	blood
40	chr22:30418400-30425200	Strong transcription	HSMMtube	muscle
41	chr22:30418800-30425600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr22:30419600-30425400	Strong transcription	Osteobl	bone
43	chr22:30419600-30426000	Strong transcription	HSMM	muscle
44	chr22:30419600-30434400	Weak transcription	Small Intestine	intestine
45	chr22:30419800-30425200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr22:30419800-30425200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr22:30419800-30425200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr22:30419800-30427200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr22:30420400-30425400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr22:30420600-30425200	Genic enhancers	Esophagus	oesophagus

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