Variant report

Variant	rs57970523
Chromosome Location	chr22:31980988-31980989
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: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	chr22:31980240..31982872-chr22:32023554..32027638,4	MCF-7	breast:
2	chr22:31980900..31983627-chr22:32021612..32023402,2	K562	blood:
3	22:31829733-31836635..22:31978142-31983723	GM12878	blood:
4	22:31936958-31958600..22:31978142-31983723	K562	blood:
5	chr22:31980968..31983542-chr22:31989382..31992325,2	MCF-7	breast:
6	chr22:31978255..31985248-chr22:32021950..32028161,12	MCF-7	breast:
7	chr22:31980345..31982006-chr22:32340364..32342086,2	K562	blood:
8	chr22:31974878..31977685-chr22:31979541..31981630,2	K562	blood:
9	chr22:31955553..31958257-chr22:31980841..31983797,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000128245	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000198089	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16989427	0.87[AFR][1000 genomes]
rs62240685	0.87[AFR][1000 genomes]
rs62240689	0.87[AFR][1000 genomes]
rs8142355	0.87[AFR][1000 genomes]
rs8143064	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914979	chr22:31964043-31990184	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv914980	chr22:31966274-32024980	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv979746	chr22:31976201-31982901	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv517534	chr22:31977594-32024980	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31929800-31985600	Weak transcription	Fetal Kidney	kidney
2	chr22:31934000-31981000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr22:31935200-31985400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:31935800-32013200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr22:31941400-31981400	Weak transcription	NHEK	skin
6	chr22:31947800-32009600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr22:31949200-31981600	Weak transcription	Left Ventricle	heart
8	chr22:31949400-32014400	Weak transcription	Hela-S3	cervix
9	chr22:31957400-32016400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr22:31958000-31983000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr22:31964600-31993600	Weak transcription	Psoas Muscle	Psoas
12	chr22:31967000-31985400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr22:31967200-31981000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr22:31968800-31986200	Strong transcription	Fetal Thymus	thymus
15	chr22:31968800-32003800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr22:31970600-31981400	Weak transcription	Pancreas	Pancrea
17	chr22:31971400-31982000	Weak transcription	Gastric	stomach
18	chr22:31971600-31981200	Weak transcription	HMEC	breast
19	chr22:31971800-31982000	Weak transcription	Brain Substantia Nigra	brain
20	chr22:31972000-31981200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr22:31972000-31981600	Weak transcription	Brain Hippocampus Middle	brain
22	chr22:31972000-31982600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr22:31973800-31981200	Weak transcription	Fetal Muscle Leg	muscle
24	chr22:31974400-31998200	Weak transcription	Small Intestine	intestine
25	chr22:31974600-31981200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr22:31974600-31981400	Weak transcription	Colonic Mucosa	Colon
27	chr22:31974600-31981400	Weak transcription	Ovary	ovary
28	chr22:31974600-31981600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr22:31974600-31984200	Weak transcription	Right Ventricle	heart
30	chr22:31974800-31998200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr22:31975000-31981000	Weak transcription	Fetal Brain Female	brain
32	chr22:31975000-32003800	Weak transcription	Aorta	Aorta
33	chr22:31975200-31981000	Weak transcription	Brain Anterior Caudate	brain
34	chr22:31975200-31981000	Weak transcription	Brain Germinal Matrix	brain
35	chr22:31976200-32014800	Weak transcription	A549	lung
36	chr22:31976400-31981200	Weak transcription	Fetal Intestine Large	intestine
37	chr22:31976400-31981400	Weak transcription	Spleen	Spleen
38	chr22:31976400-32014800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr22:31976400-32019200	Weak transcription	Fetal Brain Male	brain
40	chr22:31976600-31982200	Enhancers	HepG2	liver
41	chr22:31977000-31985400	Weak transcription	Stomach Mucosa	stomach
42	chr22:31977600-31982000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr22:31977800-31981000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr22:31977800-31983000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
45	chr22:31978200-31987200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr22:31978400-31985800	Strong transcription	Thymus	Thymus
47	chr22:31978600-31981000	Weak transcription	Fetal Intestine Small	intestine
48	chr22:31978600-31982600	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr22:31978600-31985800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr22:31979200-31981400	Weak transcription	Primary monocytes fromperipheralblood	blood

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