Variant report

Variant	rs9608865
Chromosome Location	chr22:30682767-30682768
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30681125..30685749-chr22:30780011..30785695,7	MCF-7	breast:
2	chr22:30681963..30685470-chr22:30751422..30755510,6	K562	blood:
3	chr22:30678315..30679993-chr22:30681733..30683243,2	MCF-7	breast:
4	chr22:30681692..30688141-chr22:30720232..30725114,19	MCF-7	breast:
5	chr22:30651748..30652706-chr22:30682379..30683051,3	MCF-7	breast:
6	chr22:30682486..30684766-chr22:30780472..30782448,3	K562	blood:
7	chr22:30679588..30687274-chr22:30748772..30756086,11	MCF-7	breast:
8	chr22:30681129..30691076-chr22:30751303..30759078,14	K562	blood:
9	chr22:30682210..30683992-chr22:30781064..30783506,2	K562	blood:
10	chr22:30504126..30504835-chr22:30682136..30683020,2	K562	blood:
11	chr22:30682051..30684043-chr22:30751437..30753247,3	MCF-7	breast:
12	chr22:30680865..30682835-chr22:30784802..30787027,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000099999	Chromatin interaction
ENSG00000099995	Chromatin interaction
ENSG00000099992	Chromatin interaction
ENSG00000187860	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs34096486	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3804077	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41281643	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41304671	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41308741	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9606713	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]
rs9606715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606716	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9606717	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606726	1.00[CEU][hapmap]
rs9606727	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.85[AMR][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];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9608868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608883	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608897	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9608900	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9608902	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9608905	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs9608906	0.85[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	chr22:30674600-30683000	Weak transcription	Colonic Mucosa	Colon
9	chr22:30674600-30683000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr22:30674600-30683800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr22:30674600-30684000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr22:30674600-30684200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr22:30674600-30684600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr22:30675400-30683200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr22:30675400-30683200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr22:30675400-30684000	Weak transcription	Brain Anterior Caudate	brain
17	chr22:30676000-30683200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr22:30676000-30683800	Weak transcription	Brain Substantia Nigra	brain
19	chr22:30676000-30683800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr22:30676000-30684000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr22:30676000-30684000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr22:30676000-30684000	Weak transcription	NHLF	lung
23	chr22:30676200-30684000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr22:30677000-30684000	Weak transcription	Osteobl	bone
25	chr22:30678000-30683200	Strong transcription	Fetal Stomach	stomach
26	chr22:30678000-30683400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr22:30678200-30684200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr22:30678600-30684000	Weak transcription	Primary B cells from cord blood	blood
29	chr22:30678800-30684000	Weak transcription	Thymus	Thymus
30	chr22:30679200-30683000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr22:30679200-30683000	Strong transcription	Placenta	Placenta
32	chr22:30679200-30683200	Genic enhancers	Fetal Intestine Small	intestine
33	chr22:30679200-30683400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr22:30679400-30683200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr22:30679400-30683200	Strong transcription	Ovary	ovary
36	chr22:30679400-30683400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr22:30679400-30684000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr22:30679600-30684000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr22:30679600-30684000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr22:30679600-30684200	Weak transcription	HSMMtube	muscle
41	chr22:30679600-30684200	Weak transcription	NH-A	brain
42	chr22:30679800-30683400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr22:30679800-30684200	Weak transcription	HSMM	muscle
44	chr22:30680000-30683600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr22:30680200-30682800	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr22:30680200-30683000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr22:30680200-30683000	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr22:30680200-30683400	Strong transcription	Right Ventricle	heart
49	chr22:30680400-30682800	Strong transcription	Stomach Smooth Muscle	stomach
50	chr22:30680400-30683000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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