Variant report

Variant	rs60783010
Chromosome Location	chr22:32022378-32022379
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:32022205-32022767	GM12891	blood:	n/a	n/a
2	POLR2A	chr22:32022281-32022381	MCF-7	breast:	n/a	n/a
3	POLR2A	chr22:32011207-32024507	GM12892	blood:	n/a	n/a
4	POLR2A	chr22:32020745-32024303	GM19193	blood:	n/a	n/a
5	POLR2A	chr22:32020849-32023057	HepG2	liver:	n/a	n/a
6	GATA3	chr22:32022177-32022791	MCF-7	breast:	n/a	n/a
7	POLR2A	chr22:32022028-32022518	Hela-S3	cervix:	n/a	n/a
8	REST	chr22:32021323-32022406	H1-neurons	neurons:	n/a	chr22:32022326-32022339 chr22:32022092-32022112
9	POLR2A	chr22:32013628-32027741	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr22:32022140-32022469	GM12878	blood:	n/a	n/a
11	POLR2A	chr22:32009001-32024875	GM12878	blood:	n/a	n/a
12	GATA1	chr22:32022155-32023033	K562	blood:	n/a	n/a
13	POLR2A	chr22:32018803-32022470	GM12892	blood:	n/a	n/a
14	POLR2A	chr22:32022255-32022419	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr22:32021836-32027312	GM12878	blood:	n/a	n/a
16	POLR2A	chr22:32021987-32023530	K562	blood:	n/a	n/a
17	HMGN3	chr22:32022315-32023306	K562	blood:	n/a	n/a
18	POLR2A	chr22:32021925-32022522	HL-60	blood:	n/a	n/a
19	POLR2A	chr22:32021733-32024261	GM18505	blood:	n/a	n/a
20	POLR2A	chr22:32022242-32024222	GM12878	blood:	n/a	n/a
21	SIN3A	chr22:32021676-32022432	H1-hESC	embryonic stem cell:	n/a	chr22:32022326-32022339 chr22:32022097-32022111
22	CCNT2	chr22:32022369-32023014	K562	blood:	n/a	n/a
23	POLR2A	chr22:32021687-32022386	GM12891	blood:	n/a	n/a
24	POLR2A	chr22:32019390-32027366	GM12891	blood:	n/a	n/a
25	TEAD4	chr22:32022347-32023053	K562	blood:	n/a	n/a
26	POLR2A	chr22:32022200-32022532	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr22:32021132-32023354	K562	blood:	n/a	n/a
28	MAZ	chr22:32021567-32022956	IMR90	lung:	n/a	chr22:32022902-32022911
29	POLR2A	chr22:32019734-32028474	PBDE	blood:	n/a	n/a
30	POLR2A	chr22:32021290-32022378	GM12878	blood:	n/a	n/a
31	GATA1	chr22:32022009-32024145	PBDE	blood:	n/a	n/a
32	POLR2A	chr22:32022303-32023890	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	22:32012966-32043914..22:32347255-32351014	K562	blood:
2	22:31936958-31958600..22:32012966-32043914	GM12878	blood:
3	22:32012966-32043914..22:32513817-32522138	K562	blood:
4	22:31829733-31836635..22:32012966-32043914	GM12878	blood:
5	22:32012966-32043914..22:32665993-32670527	K562	blood:
6	chr22:32022238..32024391-chr22:32055761..32058273,2	MCF-7	breast:
7	22:31930706-31935473..22:32012966-32043914	GM12878	blood:
8	22:32012966-32043914..22:32529813-32538538	K562	blood:
9	22:32012966-32043914..22:32846948-32860159	K562	blood:
10	chr22:31978255..31985248-chr22:32021950..32028161,12	MCF-7	breast:
11	chr22:31999125..32001513-chr22:32021753..32023468,2	K562	blood:
12	chr22:32021921..32023710-chr22:32058064..32060097,2	K562	blood:
13	22:32012966-32043914..22:32360288-32405313	K562	blood:

No data

Variant related genes	Relation type
PISD	TF binding region
ENSG00000234479	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000230866	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000224050	Chromatin interaction
ENSG00000239674	Chromatin interaction
ENSG00000229169	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000238910	Chromatin interaction
ENSG00000240647	Chromatin interaction
ENSG00000232707	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16989329	1.00[AFR][1000 genomes]
rs4602315	1.00[AFR][1000 genomes]
rs57725422	1.00[AFR][1000 genomes]
rs59562831	0.89[AFR][1000 genomes]
rs61385137	1.00[AFR][1000 genomes]
rs73400211	1.00[AFR][1000 genomes]
rs73400214	1.00[AFR][1000 genomes]
rs73400223	1.00[AFR][1000 genomes]
rs73400227	0.90[AFR][1000 genomes]
rs73400239	0.90[AFR][1000 genomes]
rs73400252	1.00[AFR][1000 genomes]
rs73400284	0.90[AFR][1000 genomes]
rs73400287	0.81[AFR][1000 genomes]
rs73402152	1.00[AFR][1000 genomes]
rs73402160	0.81[AFR][1000 genomes]
rs73402170	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv829176	chr22:31998223-32029556	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv1845516	chr22:32010436-32024552	Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv2830290	chr22:32011225-32057964	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32008000-32022600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr22:32010200-32025600	Genic enhancers	Placenta	Placenta
3	chr22:32012200-32022600	Strong transcription	Thymus	Thymus
4	chr22:32012600-32024400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr22:32013200-32024000	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr22:32013600-32025200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr22:32014000-32025600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr22:32015400-32022400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr22:32015400-32025200	Weak transcription	Hela-S3	cervix
10	chr22:32016000-32023600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr22:32016400-32025400	Weak transcription	HSMM	muscle
12	chr22:32016600-32022400	Weak transcription	A549	lung
13	chr22:32016600-32025600	Weak transcription	Small Intestine	intestine
14	chr22:32016800-32025600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr22:32017000-32025400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr22:32017600-32025600	Genic enhancers	Spleen	Spleen
17	chr22:32017800-32022600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr22:32017800-32022800	Weak transcription	Primary B cells from cord blood	blood
19	chr22:32017800-32022800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr22:32018000-32022400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr22:32018000-32022400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr22:32018000-32025400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr22:32018000-32025600	Weak transcription	Aorta	Aorta
24	chr22:32018200-32025600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr22:32018200-32025600	Weak transcription	HSMMtube	muscle
26	chr22:32018400-32023400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr22:32018400-32025200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr22:32018600-32025000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr22:32018800-32024600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr22:32019000-32023000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr22:32019200-32023200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr22:32019200-32025000	Weak transcription	Osteobl	bone
33	chr22:32019400-32022400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr22:32019600-32026000	Genic enhancers	Esophagus	oesophagus
35	chr22:32019800-32022400	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr22:32019800-32022400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
37	chr22:32019800-32023600	Enhancers	H1 Cell Line	embryonic stem cell
38	chr22:32020000-32022600	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr22:32020200-32022400	Flanking Active TSS	Brain Cingulate Gyrus	brain
40	chr22:32020200-32022600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr22:32020200-32022600	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr22:32020200-32022800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr22:32020400-32023400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr22:32020400-32025800	Enhancers	Fetal Thymus	thymus
45	chr22:32020600-32022400	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr22:32020600-32022800	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr22:32020600-32022800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr22:32020600-32023200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr22:32020800-32022400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr22:32020800-32022600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin

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