Variant report

Variant	rs9606726
Chromosome Location	chr22:30823250-30823251
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30821810..30824396-chr22:30842591..30845035,2	K562	blood:
2	chr22:30814763..30819112-chr22:30819393..30823307,5	MCF-7	breast:
3	chr22:30803275..30806677-chr22:30820826..30824180,3	MCF-7	breast:
4	chr12:57480730..57482980-chr22:30821436..30824082,2	MCF-7	breast:
5	chr22:30684393..30686613-chr22:30820961..30823363,3	MCF-7	breast:
6	chr22:30785688..30789548-chr22:30822700..30827949,4	K562	blood:
7	chr22:30821818..30823815-chr22:30836918..30838469,2	K562	blood:
8	chr22:30787731..30797808-chr22:30813672..30825727,31	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272689	Chromatin interaction
ENSG00000166881	Chromatin interaction
ENSG00000166886	Chromatin interaction
ENSG00000100003	Chromatin interaction
ENSG00000222915	Chromatin interaction
ENSG00000273350	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000249590	Chromatin interaction
ENSG00000239282	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs34096486	0.85[AMR][1000 genomes]
rs3804077	1.00[CEU][hapmap]
rs9606713	1.00[CEU][hapmap]
rs9606716	1.00[CEU][hapmap];0.83[AMR][1000 genomes]
rs9606717	1.00[CEU][hapmap]
rs9606727	0.85[AMR][1000 genomes]
rs9608862	1.00[CEU][hapmap]
rs9608865	1.00[CEU][hapmap]
rs9608876	1.00[CEU][hapmap]
rs9608883	1.00[CEU][hapmap]
rs9608884	1.00[CEU][hapmap]
rs9608886	1.00[CEU][hapmap]
rs9608897	0.85[AMR][1000 genomes]
rs9608900	0.85[AMR][1000 genomes]
rs9608902	0.85[AMR][1000 genomes]
rs9608905	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs9608906	0.85[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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30821600-30823600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr22:30821800-30823600	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr22:30822200-30823800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr22:30822400-30826000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr22:30822400-30834400	Weak transcription	Small Intestine	intestine
6	chr22:30822600-30823400	Enhancers	Lung	lung
7	chr22:30822600-30823600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr22:30822600-30825600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr22:30822600-30825600	Weak transcription	Fetal Kidney	kidney
10	chr22:30822600-30827000	Weak transcription	Psoas Muscle	Psoas
11	chr22:30822600-30831600	Weak transcription	Right Atrium	heart
12	chr22:30822600-30832000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr22:30822800-30823400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr22:30822800-30823400	Enhancers	Esophagus	oesophagus
15	chr22:30822800-30823400	Enhancers	Fetal Muscle Trunk	muscle
16	chr22:30822800-30823400	Enhancers	Pancreas	Pancrea
17	chr22:30822800-30823600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr22:30822800-30824000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr22:30822800-30824200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr22:30822800-30825200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr22:30822800-30826400	Weak transcription	NHLF	lung
22	chr22:30822800-30828000	Weak transcription	Fetal Intestine Large	intestine
23	chr22:30822800-30828200	Weak transcription	Ovary	ovary
24	chr22:30822800-30831600	Weak transcription	Right Ventricle	heart
25	chr22:30822800-30832000	Weak transcription	Left Ventricle	heart
26	chr22:30823000-30823400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr22:30823000-30823400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr22:30823000-30823400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr22:30823000-30823400	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr22:30823000-30823400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr22:30823000-30823400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr22:30823000-30823400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr22:30823000-30823400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr22:30823000-30823400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr22:30823000-30823400	Enhancers	Duodenum Mucosa	Duodenum
36	chr22:30823000-30823400	Weak transcription	Hela-S3	cervix
37	chr22:30823000-30823400	Enhancers	HepG2	liver
38	chr22:30823000-30823400	Enhancers	HMEC	breast
39	chr22:30823000-30823600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr22:30823000-30823600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr22:30823000-30823600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
42	chr22:30823000-30823800	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr22:30823000-30823800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr22:30823000-30823800	Weak transcription	Fetal Muscle Leg	muscle
45	chr22:30823000-30824400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr22:30823000-30824400	Weak transcription	Liver	Liver
47	chr22:30823000-30825200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr22:30823000-30825600	Strong transcription	Fetal Stomach	stomach
49	chr22:30823000-30825800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr22:30823000-30826000	Strong transcription	Fetal Intestine Small	intestine

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