Variant report

Variant	rs16988458
Chromosome Location	chr22:30681203-30681204
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30681125..30685749-chr22:30780011..30785695,7	MCF-7	breast:
2	chr22:30679348..30681690-chr22:30685966..30688546,2	K562	blood:
3	chr22:30679955..30682000-chr22:30725118..30726971,2	K562	blood:
4	chr22:30679588..30687274-chr22:30748772..30756086,11	MCF-7	breast:
5	chr22:30681129..30691076-chr22:30751303..30759078,14	K562	blood:
6	chr22:30678673..30681539-chr22:30683281..30686944,4	MCF-7	breast:
7	chr22:30658735..30661229-chr22:30678360..30682105,3	MCF-7	breast:
8	chr22:30679226..30682000-chr22:30723679..30728534,4	K562	blood:
9	chr22:30680865..30682835-chr22:30784802..30787027,2	MCF-7	breast:
10	chr22:30668087..30672476-chr22:30679635..30681942,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000099995	Chromatin interaction
ENSG00000187860	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000239282	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12167903	1.00[ASW][hapmap]
rs12168516	1.00[ASW][hapmap];1.00[AMR][1000 genomes]
rs12168728	1.00[AMR][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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30672600-30684400	Weak transcription	Fetal Brain Female	brain
2	chr22:30674400-30684000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr22:30674400-30684000	Weak transcription	NHEK	skin
4	chr22:30674400-30684200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr22:30674400-30684200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr22:30674400-30684200	Weak transcription	Brain Germinal Matrix	brain
7	chr22:30674400-30684200	Weak transcription	Right Atrium	heart
8	chr22:30674600-30682600	Weak transcription	Pancreas	Pancrea
9	chr22:30674600-30683000	Weak transcription	Colonic Mucosa	Colon
10	chr22:30674600-30683000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr22:30674600-30683800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr22:30674600-30684000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr22:30674600-30684200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr22:30674600-30684600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr22:30675400-30681400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr22:30675400-30683200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr22:30675400-30683200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr22:30675400-30684000	Weak transcription	Brain Anterior Caudate	brain
19	chr22:30676000-30683200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr22:30676000-30683800	Weak transcription	Brain Substantia Nigra	brain
21	chr22:30676000-30683800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr22:30676000-30684000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr22:30676000-30684000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr22:30676000-30684000	Weak transcription	NHLF	lung
25	chr22:30676200-30684000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr22:30677000-30684000	Weak transcription	Osteobl	bone
27	chr22:30677800-30682400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr22:30678000-30683200	Strong transcription	Fetal Stomach	stomach
29	chr22:30678000-30683400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr22:30678200-30681400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr22:30678200-30684200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr22:30678600-30682600	Strong transcription	Esophagus	oesophagus
33	chr22:30678600-30684000	Weak transcription	Primary B cells from cord blood	blood
34	chr22:30678800-30684000	Weak transcription	Thymus	Thymus
35	chr22:30679200-30681400	Enhancers	Fetal Intestine Large	intestine
36	chr22:30679200-30681400	Weak transcription	Fetal Thymus	thymus
37	chr22:30679200-30681400	Enhancers	K562	blood
38	chr22:30679200-30682600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr22:30679200-30683000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr22:30679200-30683000	Strong transcription	Placenta	Placenta
41	chr22:30679200-30683200	Genic enhancers	Fetal Intestine Small	intestine
42	chr22:30679200-30683400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr22:30679400-30681600	Strong transcription	Liver	Liver
44	chr22:30679400-30682200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr22:30679400-30683200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr22:30679400-30683200	Strong transcription	Ovary	ovary
47	chr22:30679400-30683400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr22:30679400-30684000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr22:30679600-30682400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr22:30679600-30682600	Genic enhancers	Dnd41	blood

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