Variant report

Variant	rs41308741
Chromosome Location	chr22:30767997-30767998
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:30767570-30768223	HepG2	liver:	n/a	n/a
2	POLR2A	chr22:30767953-30768301	A549	lung:	n/a	n/a
3	POLR2A	chr22:30767859-30770762	K562	blood:	n/a	n/a
4	POLR2A	chr22:30767652-30768133	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr22:30767928-30768390	A549	lung:	n/a	n/a
6	POLR2A	chr22:30767814-30768060	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr22:30765267-30768046	A549	lung:	n/a	n/a
8	POLR2A	chr22:30767161-30769207	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr22:30765777..30768205-chr22:30839224..30841289,2	K562	blood:
2	chr22:30767734..30769854-chr22:30772138..30775755,4	K562	blood:
3	chr22:30751257..30752910-chr22:30766563..30769095,2	K562	blood:
4	chr22:30764710..30768313-chr22:30781747..30783425,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNF215-1	chr22:30764800-30772009	NONHSAT084775

No data

Variant related genes	Relation type
CCDC157	TF binding region
ENSG00000099999	Chromatin interaction
ENSG00000241528	Chromatin interaction
ENSG00000099995	Chromatin interaction
ENSG00000187860	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs34096486	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3804077	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41281643	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41304671	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9606713	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9606715	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9606716	0.83[AMR][1000 genomes]
rs9606717	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9606720	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9606727	0.85[AMR][1000 genomes]
rs9608862	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9608865	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9608868	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9608873	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9608876	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9608883	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9608884	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9608886	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9608887	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9608897	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9608900	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9608902	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9608905	0.85[AMR][1000 genomes]
rs9608906	0.85[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:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30753200-30782200	Weak transcription	Stomach Mucosa	stomach
2	chr22:30753400-30771400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr22:30753400-30775200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr22:30753400-30776000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr22:30753400-30777000	Weak transcription	Aorta	Aorta
6	chr22:30753600-30769200	Weak transcription	Brain Hippocampus Middle	brain
7	chr22:30753600-30769400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr22:30753600-30770000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:30753600-30770200	Weak transcription	Brain Substantia Nigra	brain
10	chr22:30753600-30771400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr22:30753600-30772600	Weak transcription	NHLF	lung
12	chr22:30753600-30772800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr22:30753600-30773000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr22:30753600-30773000	Weak transcription	Gastric	stomach
15	chr22:30753600-30773400	Weak transcription	Right Ventricle	heart
16	chr22:30753600-30775400	Weak transcription	Colon Smooth Muscle	Colon
17	chr22:30753600-30775400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr22:30753600-30776200	Weak transcription	Thymus	Thymus
19	chr22:30753600-30779200	Weak transcription	Left Ventricle	heart
20	chr22:30753600-30779400	Weak transcription	NHEK	skin
21	chr22:30753600-30779600	Weak transcription	NH-A	brain
22	chr22:30753600-30782000	Weak transcription	Colonic Mucosa	Colon
23	chr22:30753600-30782000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr22:30753600-30782200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr22:30753600-30782400	Weak transcription	Primary T cells from cord blood	blood
26	chr22:30753800-30768800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr22:30753800-30773400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr22:30753800-30775400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr22:30754000-30768800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr22:30754000-30771400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr22:30754000-30773400	Weak transcription	Liver	Liver
32	chr22:30754200-30770400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr22:30754200-30772800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr22:30754200-30775400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr22:30754200-30779200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr22:30754200-30782000	Weak transcription	Fetal Brain Male	brain
37	chr22:30754400-30773400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr22:30754600-30773200	Weak transcription	Brain Angular Gyrus	brain
39	chr22:30755200-30775200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr22:30755400-30773200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr22:30759000-30772200	Weak transcription	Dnd41	blood
42	chr22:30759200-30770000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr22:30759400-30775400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr22:30759400-30775600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr22:30759600-30768800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr22:30759600-30773400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr22:30759600-30773600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr22:30759600-30782200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr22:30760600-30770400	Weak transcription	HepG2	liver
50	chr22:30762000-30782400	Weak transcription	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links