Variant report

Variant	rs8139885
Chromosome Location	chr22:29901503-29901504
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29900180..29902259-chr22:29906979..29909604,2	MCF-7	breast:
2	chr22:29900167..29903084-chr22:29905527..29908118,2	K562	blood:

Variant related genes	Relation type
ENSG00000100296	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs56783715	0.90[ASN][1000 genomes]
rs57014206	0.90[ASN][1000 genomes]
rs58113244	0.90[ASN][1000 genomes]
rs59172206	0.90[ASN][1000 genomes]
rs59237579	0.90[ASN][1000 genomes]
rs59422664	0.90[ASN][1000 genomes]
rs59902813	0.90[ASN][1000 genomes]
rs60020246	0.90[ASN][1000 genomes]
rs6006168	1.00[EUR][1000 genomes]
rs60670183	0.82[ASN][1000 genomes]
rs60751623	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60965931	0.90[ASN][1000 genomes]
rs61432554	0.90[ASN][1000 genomes]
rs61740613	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8136249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29878000-29903000	Weak transcription	Pancreas	Pancrea
2	chr22:29878800-29902600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr22:29882800-29903200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:29883800-29904000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr22:29884000-29902200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr22:29885000-29902600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr22:29885600-29904000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr22:29886000-29903400	Weak transcription	Gastric	stomach
9	chr22:29886200-29902800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr22:29887400-29902000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr22:29887600-29902000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr22:29890800-29901800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr22:29890800-29902200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr22:29891000-29902600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr22:29891000-29903600	Weak transcription	Spleen	Spleen
16	chr22:29891000-29904000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr22:29891200-29902600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr22:29891200-29902600	Weak transcription	Fetal Lung	lung
19	chr22:29891200-29903000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr22:29891400-29903000	Weak transcription	Aorta	Aorta
21	chr22:29891600-29902800	Weak transcription	HUVEC	blood vessel
22	chr22:29891600-29907400	Weak transcription	Fetal Brain Male	brain
23	chr22:29891800-29903600	Weak transcription	Small Intestine	intestine
24	chr22:29892800-29902200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr22:29894200-29902600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr22:29894600-29902000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr22:29894600-29914800	Weak transcription	Hela-S3	cervix
28	chr22:29894800-29902400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr22:29895000-29902400	Weak transcription	Lung	lung
30	chr22:29895200-29902200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr22:29895800-29916800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr22:29896600-29902000	Weak transcription	GM12878-XiMat	blood
33	chr22:29896800-29902200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr22:29896800-29902600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr22:29896800-29902600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr22:29896800-29904000	Weak transcription	HepG2	liver
37	chr22:29896800-29904000	Weak transcription	HMEC	breast
38	chr22:29897600-29934600	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr22:29898000-29902600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr22:29898200-29947400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr22:29898400-29902600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr22:29898400-29911400	Weak transcription	Fetal Kidney	kidney
43	chr22:29898600-29902400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr22:29899400-29903200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr22:29899800-29902000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr22:29899800-29909600	Strong transcription	Primary T cells from cord blood	blood
47	chr22:29900000-29902400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr22:29900000-29902400	Weak transcription	Placenta	Placenta
49	chr22:29900200-29902000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr22:29900200-29902200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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