Variant report

Variant	rs5994320
Chromosome Location	chr22:30960754-30960755
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr22:30960417-30960815	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr22:30960739-30960968	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr22:30960686-30960946	H1-hESC	embryonic stem cell:	n/a	n/a
4	TEAD4	chr22:30960686-30961081	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
GAL3ST1	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11914168	1.00[JPT][hapmap]
rs2412992	1.00[ASN][1000 genomes]
rs42942	1.00[CHB][hapmap]
rs60399532	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606756	1.00[CHB][hapmap]
rs9609025	1.00[CHB][hapmap]
rs9609038	1.00[CHB][hapmap]

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	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
3	nsv588887	chr22:30953521-30995356	Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30939000-30962000	Weak transcription	Liver	Liver
2	chr22:30944800-30968000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr22:30948400-30961800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr22:30950600-30969000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr22:30952600-30961600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr22:30953800-30965200	Weak transcription	Gastric	stomach
7	chr22:30958000-30969600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr22:30958200-30964000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr22:30958400-30960800	Weak transcription	Fetal Intestine Large	intestine
10	chr22:30958400-30961400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr22:30958800-30961000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr22:30958800-30962200	Weak transcription	Stomach Mucosa	stomach
13	chr22:30959800-30962400	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr22:30960200-30961000	Enhancers	Spleen	Spleen
15	chr22:30960200-30961200	Enhancers	Brain Germinal Matrix	brain
16	chr22:30960200-30961800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr22:30960200-30962000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr22:30960200-30962000	Enhancers	HepG2	liver
19	chr22:30960200-30962200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr22:30960200-30962200	Enhancers	Brain Cingulate Gyrus	brain
21	chr22:30960200-30962400	Enhancers	Brain Hippocampus Middle	brain
22	chr22:30960200-30962400	Enhancers	Brain Substantia Nigra	brain
23	chr22:30960200-30962600	Enhancers	Brain Angular Gyrus	brain
24	chr22:30960400-30960800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr22:30960400-30961000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr22:30960400-30961200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr22:30960400-30961400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr22:30960400-30961400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr22:30960400-30962600	Enhancers	A549	lung
30	chr22:30960600-30960800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr22:30960600-30960800	Bivalent Enhancer	Fetal Stomach	stomach
32	chr22:30960600-30961000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr22:30960600-30961000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr22:30960600-30961000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr22:30960600-30961000	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr22:30960600-30961200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr22:30960600-30961200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr22:30960600-30961800	Genic enhancers	Fetal Intestine Small	intestine

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