Variant report

Variant	rs9608900
Chromosome Location	chr22:30786700-30786701
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr22:30786657-30787645	A549	lung:	n/a	n/a
2	CTCF	chr22:30786620-30786770	NHLF	lung:	n/a	n/a
3	KAP1	chr22:30786588-30787367	K562	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30785161..30787153-chr22:30828988..30831044,2	MCF-7	breast:
2	chr22:30655306..30657040-chr22:30785733..30787462,2	MCF-7	breast:
3	chr22:30785688..30789548-chr22:30822700..30827949,4	K562	blood:
4	chr22:30783942..30788734-chr22:30793549..30798623,5	K562	blood:
5	chr22:30782364..30784994-chr22:30785514..30787523,2	K562	blood:
6	chr22:30680865..30682835-chr22:30784802..30787027,2	MCF-7	breast:
7	chr22:30786344..30789166-chr22:30790183..30793938,3	K562	blood:
8	chr22:30786675..30787458-chr22:30952217..30952980,2	MCF-7	breast:
9	chr22:30783942..30787268-chr22:30794272..30798522,4	K562	blood:
10	chr22:30684543..30686368-chr22:30785560..30787227,2	K562	blood:
11	chr22:30782998..30784853-chr22:30785948..30788103,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNF215	TF binding region
ENSG00000099999	Chromatin interaction
ENSG00000239282	Chromatin interaction
ENSG00000100003	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs34096486	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3804077	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs41281643	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs41304671	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs41308741	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9606713	0.90[ASN][1000 genomes]
rs9606715	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9606717	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9606720	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9606726	0.85[AMR][1000 genomes]
rs9606727	1.00[AMR][1000 genomes]
rs9606730	0.87[AMR][1000 genomes]
rs9608862	0.90[ASN][1000 genomes]
rs9608865	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9608868	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9608873	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9608876	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9608883	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9608884	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9608886	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9608887	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9608897	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608902	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608905	1.00[AMR][1000 genomes]
rs9608906	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30783200-30787000	Weak transcription	Primary B cells from cord blood	blood
2	chr22:30783800-30786800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr22:30783800-30786800	Weak transcription	Colonic Mucosa	Colon
4	chr22:30783800-30787000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr22:30783800-30787000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr22:30783800-30787000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr22:30783800-30787000	Weak transcription	Brain Anterior Caudate	brain
8	chr22:30783800-30787000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr22:30783800-30787000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr22:30783800-30787000	Weak transcription	Brain Substantia Nigra	brain
11	chr22:30783800-30787000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr22:30783800-30787000	Weak transcription	HSMM	muscle
13	chr22:30783800-30787200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr22:30783800-30787200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr22:30783800-30787200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr22:30783800-30787200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr22:30783800-30787200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr22:30783800-30787200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr22:30783800-30787200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr22:30783800-30787200	Weak transcription	Brain Hippocampus Middle	brain
21	chr22:30783800-30787200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr22:30783800-30787200	Weak transcription	NHDF-Ad	bronchial
23	chr22:30783800-30787200	Weak transcription	NHLF	lung
24	chr22:30783800-30787400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr22:30783800-30787400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr22:30783800-30787400	Weak transcription	Primary T cells from cord blood	blood
27	chr22:30783800-30787400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr22:30783800-30787400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr22:30783800-30787400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr22:30783800-30787400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr22:30783800-30787400	Weak transcription	Liver	Liver
32	chr22:30783800-30787400	Weak transcription	Brain Angular Gyrus	brain
33	chr22:30783800-30787400	Weak transcription	Fetal Intestine Large	intestine
34	chr22:30783800-30787400	Weak transcription	Spleen	Spleen
35	chr22:30783800-30787400	Weak transcription	HUVEC	blood vessel
36	chr22:30783800-30787400	Weak transcription	Osteobl	bone
37	chr22:30783800-30787600	Weak transcription	Left Ventricle	heart
38	chr22:30783800-30788600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr22:30783800-30788600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr22:30783800-30789200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr22:30783800-30789200	Weak transcription	Stomach Mucosa	stomach
42	chr22:30783800-30789600	Weak transcription	Lung	lung
43	chr22:30783800-30792000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr22:30783800-30792200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr22:30783800-30792400	Weak transcription	Fetal Brain Male	brain
46	chr22:30783800-30792400	Weak transcription	Fetal Lung	lung
47	chr22:30783800-30792600	Weak transcription	Esophagus	oesophagus
48	chr22:30783800-30792600	Weak transcription	Fetal Brain Female	brain
49	chr22:30783800-30792600	Weak transcription	Fetal Kidney	kidney
50	chr22:30783800-30792600	Weak transcription	Pancreas	Pancrea

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