Variant report

Variant	rs8139982
Chromosome Location	chr22:30674564-30674565
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30672832..30675261-chr22:30683468..30685627,2	MCF-7	breast:
2	chr22:30673185..30675401-chr22:30678434..30680776,2	K562	blood:
3	chr22:30674182..30675757-chr22:30685018..30686665,2	K562	blood:
4	chr22:30672847..30675715-chr22:30716721..30718257,2	MCF-7	breast:
5	chr22:30673139..30674948-chr22:30681547..30684070,2	K562	blood:

Variant related genes	Relation type
ENSG00000239282	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13058084	0.86[AFR][1000 genomes]
rs35960997	0.86[AFR][1000 genomes]
rs4820002	0.86[AFR][1000 genomes]
rs8140284	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914968	chr22:30610570-30693581	Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv914969	chr22:30619599-30691631	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv834174	chr22:30619760-30746915	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv914971	chr22:30640308-30691631	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv914972	chr22:30640308-30693581	Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1062388	chr22:30649179-30711443	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	esv1799458	chr22:30659798-30698035	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv588885	chr22:30661184-30691631	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30669400-30676800	Enhancers	Adipose Nuclei	Adipose
2	chr22:30671600-30674600	Enhancers	Primary hematopoietic stem cells	blood
3	chr22:30671600-30675600	Enhancers	Fetal Intestine Small	intestine
4	chr22:30672200-30676400	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr22:30672400-30675200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr22:30672600-30674600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr22:30672600-30675000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr22:30672600-30675200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr22:30672600-30675600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr22:30672600-30678400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr22:30672600-30684400	Weak transcription	Fetal Brain Female	brain
12	chr22:30672800-30675200	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr22:30672800-30675400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr22:30672800-30678200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr22:30673000-30674600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr22:30673000-30675600	Enhancers	Osteobl	bone
17	chr22:30673000-30675800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr22:30673000-30676000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr22:30673000-30676000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr22:30673000-30676000	Enhancers	HMEC	breast
21	chr22:30673000-30676200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr22:30673200-30675600	Enhancers	Fetal Intestine Large	intestine
23	chr22:30673200-30676000	Enhancers	Liver	Liver
24	chr22:30673200-30676400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr22:30673200-30676400	Enhancers	Dnd41	blood
26	chr22:30673200-30678200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr22:30673400-30674600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr22:30673400-30674600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr22:30673400-30674600	Enhancers	Fetal Muscle Leg	muscle
30	chr22:30673400-30676800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr22:30673400-30677000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr22:30673600-30674600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr22:30673600-30674600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr22:30673600-30674600	Enhancers	Colonic Mucosa	Colon
35	chr22:30673600-30675800	Enhancers	Fetal Muscle Trunk	muscle
36	chr22:30673600-30676000	Enhancers	Brain Substantia Nigra	brain
37	chr22:30673600-30676200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr22:30673600-30676200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr22:30673600-30676400	Enhancers	Placenta	Placenta
40	chr22:30673800-30674600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr22:30673800-30674600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr22:30673800-30674600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr22:30673800-30674600	Enhancers	Brain Cingulate Gyrus	brain
44	chr22:30673800-30674600	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr22:30673800-30674800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr22:30673800-30675200	Enhancers	HSMMtube	muscle
47	chr22:30673800-30675400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr22:30673800-30675400	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr22:30673800-30676000	Enhancers	Brain Hippocampus Middle	brain
50	chr22:30673800-30676000	Enhancers	Spleen	Spleen

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