Variant report

Variant	rs9606713
Chromosome Location	chr22:30680689-30680690
allele	G/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30679348..30681690-chr22:30685966..30688546,2	K562	blood:
2	chr22:30679955..30682000-chr22:30725118..30726971,2	K562	blood:
3	chr22:30679588..30687274-chr22:30748772..30756086,11	MCF-7	breast:
4	chr22:30673185..30675401-chr22:30678434..30680776,2	K562	blood:
5	chr22:30678673..30681539-chr22:30683281..30686944,4	MCF-7	breast:
6	chr22:30678201..30680990-chr22:30691812..30693755,2	K562	blood:
7	chr22:30658735..30661229-chr22:30678360..30682105,3	MCF-7	breast:
8	chr22:30679226..30682000-chr22:30723679..30728534,4	K562	blood:
9	chr22:30668087..30672476-chr22:30679635..30681942,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000248751	Chromatin interaction
ENSG00000239282	Chromatin interaction
ENSG00000099992	Chromatin interaction
ENSG00000187860	Chromatin interaction
ENSG00000099995	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs34096486	0.90[ASN][1000 genomes]
rs3804077	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41281643	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41304671	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41308741	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9606715	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9606716	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs9606717	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9606720	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9606726	1.00[CEU][hapmap]
rs9606727	1.00[CHB][hapmap];1.00[AFR][1000 genomes]
rs9606730	1.00[AFR][1000 genomes]
rs9608862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9608868	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9608873	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9608876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9608883	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9608884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9608886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9608887	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9608897	0.90[ASN][1000 genomes]
rs9608900	0.90[ASN][1000 genomes]
rs9608902	0.90[ASN][1000 genomes]
rs9608905	1.00[CEU][hapmap]

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	chr22:30674400-30680800	Weak transcription	Fetal Lung	lung
3	chr22:30674400-30681200	Weak transcription	Aorta	Aorta
4	chr22:30674400-30681200	Weak transcription	Colon Smooth Muscle	Colon
5	chr22:30674400-30681200	Weak transcription	Left Ventricle	heart
6	chr22:30674400-30684000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr22:30674400-30684000	Weak transcription	NHEK	skin
8	chr22:30674400-30684200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr22:30674400-30684200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr22:30674400-30684200	Weak transcription	Brain Germinal Matrix	brain
11	chr22:30674400-30684200	Weak transcription	Right Atrium	heart
12	chr22:30674600-30680800	Weak transcription	Fetal Muscle Leg	muscle
13	chr22:30674600-30680800	Weak transcription	Gastric	stomach
14	chr22:30674600-30682600	Weak transcription	Pancreas	Pancrea
15	chr22:30674600-30683000	Weak transcription	Colonic Mucosa	Colon
16	chr22:30674600-30683000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr22:30674600-30683800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr22:30674600-30684000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr22:30674600-30684200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr22:30674600-30684600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr22:30675400-30681200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr22:30675400-30681400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr22:30675400-30683200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr22:30675400-30683200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr22:30675400-30684000	Weak transcription	Brain Anterior Caudate	brain
26	chr22:30675800-30681200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr22:30676000-30683200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr22:30676000-30683800	Weak transcription	Brain Substantia Nigra	brain
29	chr22:30676000-30683800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr22:30676000-30684000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr22:30676000-30684000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr22:30676000-30684000	Weak transcription	NHLF	lung
33	chr22:30676200-30684000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr22:30677000-30684000	Weak transcription	Osteobl	bone
35	chr22:30677800-30680800	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr22:30677800-30682400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr22:30678000-30683200	Strong transcription	Fetal Stomach	stomach
38	chr22:30678000-30683400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr22:30678200-30681400	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr22:30678200-30684200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr22:30678600-30680800	Weak transcription	Spleen	Spleen
42	chr22:30678600-30682600	Strong transcription	Esophagus	oesophagus
43	chr22:30678600-30684000	Weak transcription	Primary B cells from cord blood	blood
44	chr22:30678800-30681000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr22:30678800-30684000	Weak transcription	Thymus	Thymus
46	chr22:30679200-30681000	Weak transcription	Primary T cells from cord blood	blood
47	chr22:30679200-30681400	Enhancers	Fetal Intestine Large	intestine
48	chr22:30679200-30681400	Weak transcription	Fetal Thymus	thymus
49	chr22:30679200-30681400	Enhancers	K562	blood
50	chr22:30679200-30682600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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