Variant report

Variant	rs9620980
Chromosome Location	chr22:30808821-30808822
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30804147..30805729-chr22:30808018..30809616,2	K562	blood:
2	chr22:30807917..30810570-chr22:30811871..30814517,2	K562	blood:
3	chr22:30808773..30810570-chr22:30813017..30814906,2	K562	blood:
4	chr22:30808620..30811901-chr22:30819601..30823234,3	K562	blood:

Variant related genes	Relation type
ENSG00000242114	Chromatin interaction
ENSG00000249590	Chromatin interaction
ENSG00000268538	Chromatin interaction
ENSG00000100003	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12165697	1.00[AMR][1000 genomes]
rs12165816	1.00[AMR][1000 genomes]
rs12166660	0.87[AMR][1000 genomes]
rs12167903	0.87[AMR][1000 genomes]
rs12170269	0.87[AMR][1000 genomes]
rs12170576	0.87[AMR][1000 genomes]
rs9619106	0.87[AMR][1000 genomes]
rs9653824	0.87[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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30794000-30816600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr22:30794000-30818000	Weak transcription	Right Atrium	heart
3	chr22:30794400-30811800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr22:30794600-30811400	Weak transcription	Right Ventricle	heart
5	chr22:30794800-30811400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr22:30794800-30811600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr22:30794800-30818600	Weak transcription	Primary B cells from cord blood	blood
8	chr22:30795000-30809800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr22:30795000-30814600	Weak transcription	Colon Smooth Muscle	Colon
10	chr22:30795200-30809000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr22:30795200-30810200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr22:30795200-30811600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr22:30795200-30814400	Weak transcription	Small Intestine	intestine
14	chr22:30795400-30812000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr22:30796000-30813400	Weak transcription	Fetal Kidney	kidney
16	chr22:30796200-30811400	Weak transcription	Placenta	Placenta
17	chr22:30797800-30816400	Strong transcription	Dnd41	blood
18	chr22:30798600-30811400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr22:30798600-30811600	Weak transcription	GM12878-XiMat	blood
20	chr22:30798600-30812000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr22:30798600-30812200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:30798800-30811400	Weak transcription	Colonic Mucosa	Colon
23	chr22:30799400-30812000	Weak transcription	Stomach Mucosa	stomach
24	chr22:30799400-30817600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr22:30800200-30812600	Genic enhancers	Muscle Satellite Cultured Cells	--
26	chr22:30800600-30811600	Weak transcription	Psoas Muscle	Psoas
27	chr22:30801200-30814400	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr22:30801400-30816600	Strong transcription	Fetal Stomach	stomach
29	chr22:30801800-30810000	Strong transcription	Brain Inferior Temporal Lobe	brain
30	chr22:30802000-30816400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr22:30802200-30816200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr22:30802200-30817000	Genic enhancers	Liver	Liver
33	chr22:30802400-30811600	Strong transcription	Fetal Intestine Small	intestine
34	chr22:30802400-30811800	Strong transcription	Duodenum Mucosa	Duodenum
35	chr22:30802600-30811400	Weak transcription	Adipose Nuclei	Adipose
36	chr22:30802600-30811800	Strong transcription	Fetal Intestine Large	intestine
37	chr22:30802600-30814800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr22:30803200-30809400	Strong transcription	Esophagus	oesophagus
39	chr22:30803200-30814000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr22:30803200-30817200	Strong transcription	Fetal Muscle Trunk	muscle
41	chr22:30803400-30811600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr22:30803400-30815200	Strong transcription	Brain Substantia Nigra	brain
43	chr22:30803600-30811400	Weak transcription	Spleen	Spleen
44	chr22:30803600-30812000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr22:30804000-30810600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr22:30804800-30815600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr22:30805000-30810800	Weak transcription	Fetal Brain Male	brain
48	chr22:30805000-30811600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr22:30805000-30811600	Weak transcription	Aorta	Aorta
50	chr22:30805000-30818200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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