Variant report

Variant	rs5754074
Chromosome Location	chr22:32805015-32805016
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:32804978-32805028	HCPEpiC	choroid plexus:	n/a
2	chr22:32804978-32805028	ECC-1	luminal epithelium:	n/a
3	chr22:32804978-32805028	CMK	blood:	n/a
4	chr22:32804978-32805028	RPTEC	kidney:	n/a
5	chr22:32804978-32805028	HCT-116	colon:	n/a
6	chr22:32804978-32805028	Hepatocyte	liver:	n/a
7	chr22:32804978-32805028	AG10803	skin:	n/a
8	chr22:32804978-32805028	AG09309	skin:	n/a
9	chr22:32804978-32805028	LNCaP	prostate:	n/a
10	chr22:32804978-32805028	AoSMC	blood vessel:	n/a
11	chr22:32804978-32805028	SK-N-MC	brain:	n/a
12	chr22:32804978-32805028	HL-60	blood:	n/a
13	chr22:32804978-32805028	HIPEpiC	eye:	n/a
14	chr22:32804978-32805028	AG04449	skin:	fetal
15	chr22:32804978-32805028	IMR90	lung:	fetal
16	chr22:32804978-32805028	SK-N-SH	brain:	n/a
17	chr22:32804978-32805028	BE2_C	brain:	n/a
18	chr22:32804978-32805028	GM12891	blood:	n/a
19	chr22:32804978-32805028	AG09319	gingival:	n/a
20	chr22:32804978-32805028	HRCEpiC	kidney:	n/a
21	chr22:32804978-32805028	GM12892	blood:	n/a
22	chr22:32804978-32805028	PrEC	prostate:	n/a
23	chr22:32804978-32805028	BJ	skin:	n/a
24	chr22:32804978-32805028	SAEC	small airway:	n/a
25	chr22:32804978-32805028	HCM	heart:	n/a
26	chr22:32804978-32805028	ProgFib	skin:	n/a
27	chr22:32804978-32805028	GM12878	blood:	n/a
28	chr22:32804978-32805028	NH-A	brain:	n/a
29	chr22:32804978-32805028	NB4	blood:	n/a
30	chr22:32804978-32805028	GM06990	blood:	n/a
31	chr22:32804978-32805028	GM19239	blood:	n/a
32	chr22:32804978-32805028	HNPCEpiC	eye:	n/a
33	chr22:32804978-32805028	HRE	kidney:	n/a
34	chr22:32804978-32805028	HCF	heart:	n/a
35	chr22:32804978-32805028	NHDF-neo	bronchial:	n/a
36	chr22:32804978-32805028	H1-hESC	embryonic stem cell:	embryo
37	chr22:32804978-32805028	K562	blood:	n/a
38	chr22:32804978-32805028	U87	brain:	n/a
39	chr22:32804978-32805028	SK-N-SH_RA	brain:	n/a
40	chr22:32804978-32805028	HEK293	kidney:	embryo
41	chr22:32804978-32805028	ovcar-3	ovarian:	n/a
42	chr22:32804978-32805028	HUVEC	blood vessel:	n/a
43	chr22:32804978-32805028	HEEpiC	esophagus:	n/a
44	chr22:32804978-32805028	HepG2	liver:	n/a
45	chr22:32804978-32805028	HRPEpiC	eye:	n/a
46	chr22:32804978-32805028	NT2-D1	testis:	n/a
47	chr22:32804978-32805028	PANC-1	pancreas:	n/a
48	chr22:32804978-32805028	Hela-S3	cervix:	n/a
49	chr22:32804978-32805028	PFSK-1	brain:	n/a
50	chr22:32804978-32805028	SKMC	muscle:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:32803479..32806391-chr22:32807402..32809274,3	MCF-7	breast:
2	chr22:32793471..32796323-chr22:32803063..32805279,2	MCF-7	breast:
3	chr22:32800445..32803051-chr22:32804188..32805697,2	K562	blood:
4	chr22:32802183..32805062-chr22:32805761..32809013,3	MCF-7	breast:

No data

Variant related genes	Relation type
RTCB	CpG island
ENSG00000100220	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1972181	1.00[AFR][1000 genomes]
rs28640241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73166393	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73168721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73168729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73170329	1.00[AFR][1000 genomes]
rs734809	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9606942	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9606944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9606945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9606947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9606950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9606952	0.87[AFR][1000 genomes]
rs9606953	0.87[AFR][1000 genomes]
rs9609516	0.80[EUR][1000 genomes]
rs9609523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9609527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9609529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9609530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9609531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv1066118	chr22:32779078-32815334	Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr22:32780800-32806400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr22:32780800-32806400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:32781200-32805400	Strong transcription	Fetal Muscle Leg	muscle
4	chr22:32781200-32806600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr22:32781400-32805200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr22:32781400-32805200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr22:32781400-32805600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr22:32781400-32806400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr22:32781400-32806600	Strong transcription	Placenta	Placenta
10	chr22:32781600-32805400	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr22:32781600-32806000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr22:32782200-32805200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr22:32782800-32807200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr22:32783200-32806600	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr22:32789000-32805200	Strong transcription	Fetal Brain Female	brain
16	chr22:32792600-32805600	Weak transcription	Stomach Mucosa	stomach
17	chr22:32794200-32807400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr22:32798000-32806000	Weak transcription	Pancreas	Pancrea
19	chr22:32798000-32806800	Weak transcription	Psoas Muscle	Psoas
20	chr22:32798400-32806000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr22:32801000-32805200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
22	chr22:32802000-32806800	Genic enhancers	Primary B cells from cord blood	blood
23	chr22:32803600-32805600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
24	chr22:32803600-32806000	Weak transcription	Fetal Brain Male	brain
25	chr22:32803800-32805200	Genic enhancers	Liver	Liver
26	chr22:32803800-32806200	Weak transcription	K562	blood
27	chr22:32804000-32806400	Weak transcription	Colonic Mucosa	Colon
28	chr22:32804200-32805200	Genic enhancers	HepG2	liver
29	chr22:32804200-32806000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr22:32804200-32806000	Weak transcription	Spleen	Spleen
31	chr22:32804200-32806200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr22:32804200-32806200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr22:32804200-32806400	Weak transcription	Gastric	stomach
34	chr22:32804200-32806600	Weak transcription	NHLF	lung
35	chr22:32804200-32806800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr22:32804200-32806800	Weak transcription	Esophagus	oesophagus
37	chr22:32804200-32807000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr22:32804200-32807600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr22:32804400-32805200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr22:32804400-32805600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr22:32804400-32806000	Weak transcription	Colon Smooth Muscle	Colon
42	chr22:32804400-32806200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr22:32804400-32806400	Weak transcription	Fetal Stomach	stomach
44	chr22:32804600-32806000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr22:32804600-32806000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr22:32804600-32806000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr22:32804600-32806000	Genic enhancers	Dnd41	blood
48	chr22:32804600-32806200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr22:32804600-32806200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr22:32804600-32806200	Weak transcription	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links