Variant report

Variant	rs2853885
Chromosome Location	chr22:32347060-32347061
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:32345555-32348344	K562	blood:	n/a	n/a
2	POLR2A	chr22:32346527-32347548	K562	blood:	n/a	n/a
3	POLR2A	chr22:32346611-32347520	K562	blood:	n/a	n/a
4	POLR2A	chr22:32347020-32348213	HL-60	blood:	n/a	n/a
5	POLR2A	chr22:32346461-32347241	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr22:32346205-32348610	K562	blood:	n/a	n/a
7	POLR2A	chr22:32339799-32349498	K562	blood:	n/a	n/a
8	POLR2A	chr22:32346776-32347586	HepG2	liver:	n/a	n/a
9	POLR2A	chr22:32346995-32347440	H1-neurons	neurons:	n/a	n/a
10	POLR2A	chr22:32346291-32348270	A549	lung:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:32329277..32332045-chr22:32345243..32347387,3	K562	blood:
2	chr22:32345809..32348159-chr22:32420362..32422364,2	MCF-7	breast:
3	chr22:32061496..32064184-chr22:32345416..32347899,2	K562	blood:
4	chr22:32269252..32272043-chr22:32344783..32347897,3	K562	blood:
5	chr22:32264603..32274220-chr22:32339477..32348693,21	K562	blood:
6	chr22:32346636..32349380-chr22:32349950..32352854,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000238910	TF binding region
ENSG00000100150	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2858754	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62238968	0.83[AMR][1000 genomes]
rs62240583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62240610	0.83[AMR][1000 genomes]
rs62240622	0.83[AMR][1000 genomes]
rs62240623	0.83[AMR][1000 genomes]
rs62240627	0.83[AMR][1000 genomes]
rs62240628	0.83[AMR][1000 genomes]
rs62240629	0.83[AMR][1000 genomes]
rs62240630	0.83[AMR][1000 genomes]
rs62240631	0.83[AMR][1000 genomes]
rs62240632	0.83[AMR][1000 genomes]
rs62240652	0.83[AMR][1000 genomes]
rs62240653	0.83[AMR][1000 genomes]
rs62240654	0.83[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428046	chr22:32316302-32356963	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32342000-32347600	Weak transcription	Primary T cells from cord blood	blood
2	chr22:32342000-32354400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:32342200-32347200	Weak transcription	Ovary	ovary
4	chr22:32342200-32347600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr22:32342200-32347800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr22:32342400-32357600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:32342800-32347800	Weak transcription	Psoas Muscle	Psoas
8	chr22:32343200-32347600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr22:32343400-32347200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr22:32343400-32347200	Weak transcription	Small Intestine	intestine
11	chr22:32343400-32347400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr22:32343400-32347600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr22:32343400-32348000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr22:32343400-32348000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr22:32343400-32350400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr22:32343400-32355000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:32343600-32347200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr22:32343600-32347400	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr22:32343600-32347800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr22:32343600-32348800	Genic enhancers	K562	blood
21	chr22:32343600-32349200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr22:32343600-32349800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
23	chr22:32343600-32354600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr22:32343800-32347200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr22:32343800-32347600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr22:32343800-32347800	Weak transcription	Liver	Liver
27	chr22:32343800-32351000	Strong transcription	Primary B cells from cord blood	blood
28	chr22:32344000-32347200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr22:32344000-32347200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr22:32344000-32348200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr22:32344200-32347800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr22:32344200-32348000	Strong transcription	Fetal Intestine Large	intestine
33	chr22:32344200-32349000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr22:32344400-32347200	Strong transcription	Fetal Stomach	stomach
35	chr22:32344400-32348200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr22:32344600-32347200	Strong transcription	Dnd41	blood
37	chr22:32344600-32347600	Strong transcription	Placenta	Placenta
38	chr22:32344600-32352200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr22:32344800-32352000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr22:32345200-32347400	Weak transcription	HepG2	liver
41	chr22:32345600-32347200	Strong transcription	Primary hematopoietic stem cells	blood
42	chr22:32345600-32347400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr22:32345600-32348200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr22:32345600-32349200	Genic enhancers	NHDF-Ad	bronchial
45	chr22:32345600-32350000	Enhancers	Fetal Brain Male	brain
46	chr22:32345600-32350800	Genic enhancers	HMEC	breast
47	chr22:32345600-32351200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr22:32345600-32351200	Genic enhancers	Fetal Brain Female	brain
49	chr22:32345800-32347600	Genic enhancers	Brain Cingulate Gyrus	brain
50	chr22:32345800-32347600	Genic enhancers	HSMM	muscle

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