Variant report

Variant	rs8139285
Chromosome Location	chr22:29958327-29958328
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29953914..29956563-chr22:29957184..29959467,2	K562	blood:
2	chr22:29946832..29952460-chr22:29954697..29959036,10	MCF-7	breast:
3	chr22:29949399..29951085-chr22:29957518..29959930,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100296	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13057811	1.00[YRI][hapmap]
rs5997478	1.00[AMR][1000 genomes]
rs6006159	1.00[AMR][1000 genomes]
rs8140273	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1062373	chr22:29826745-30092448	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv544676	chr22:29826745-30092448	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv834172	chr22:29899036-30057948	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8139285	CD4	trans	lymphoblastoid	seeQTL
rs8139285	CTSW	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29950200-29976000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:29950400-29965200	Weak transcription	Small Intestine	intestine
3	chr22:29950400-29976200	Weak transcription	HMEC	breast
4	chr22:29950600-29958400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr22:29950600-29962200	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr22:29950600-29964800	Strong transcription	Fetal Intestine Large	intestine
7	chr22:29950600-29964800	Strong transcription	Fetal Intestine Small	intestine
8	chr22:29950600-29967400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr22:29950600-29967600	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr22:29950600-29968000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr22:29950600-29971600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:29950800-29958400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr22:29950800-29958400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr22:29950800-29958400	Strong transcription	Primary B cells from peripheral blood	blood
15	chr22:29950800-29958600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr22:29950800-29958800	Strong transcription	Fetal Brain Female	brain
17	chr22:29950800-29959200	Weak transcription	Hela-S3	cervix
18	chr22:29950800-29959600	Weak transcription	Fetal Heart	heart
19	chr22:29950800-29959600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr22:29950800-29961600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr22:29950800-29966400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr22:29950800-29966800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr22:29950800-29967000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr22:29950800-29976200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr22:29951000-29958400	Strong transcription	Placenta	Placenta
26	chr22:29951000-29958600	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr22:29951000-29958600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr22:29951000-29958600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr22:29951000-29958600	Strong transcription	Spleen	Spleen
30	chr22:29951000-29958600	Strong transcription	Osteobl	bone
31	chr22:29951000-29960000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr22:29951000-29962000	Strong transcription	Thymus	Thymus
33	chr22:29951000-29966600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr22:29951000-29966800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr22:29951000-29967400	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr22:29951000-29967400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr22:29951000-29967600	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr22:29951200-29958400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr22:29951200-29958400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr22:29951200-29958400	Strong transcription	Fetal Thymus	thymus
41	chr22:29951200-29958400	Strong transcription	Dnd41	blood
42	chr22:29951200-29958600	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr22:29951200-29958600	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr22:29951200-29958600	Strong transcription	Brain Germinal Matrix	brain
45	chr22:29951200-29958600	Strong transcription	HepG2	liver
46	chr22:29951200-29958800	Strong transcription	Stomach Smooth Muscle	stomach
47	chr22:29951200-29966400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr22:29951200-29967600	Strong transcription	Fetal Muscle Trunk	muscle
49	chr22:29951200-29971400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr22:29951400-29958400	Strong transcription	Placenta Amnion	Placenta Amnion

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