Variant report

Variant	rs42929
Chromosome Location	chr22:30956419-30956420
allele	C/T
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	CTCF	chr22:30956280-30956430	HepG2	liver:	n/a	n/a
2	CTCF	chr22:30956280-30956430	HRE	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30954691..30956709-chr22:31029037..31031961,2	K562	blood:
2	chr22:30949274..30954211-chr22:30954380..30957698,6	K562	blood:

Variant related genes	Relation type
GAL3ST1	TF binding region
ENSG00000128242	Chromatin interaction
ENSG00000100036	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12165697	1.00[MEX][hapmap]
rs12165816	1.00[MEX][hapmap]
rs12167903	1.00[MEX][hapmap]
rs42942	0.85[CEU][hapmap]
rs5753168	1.00[MEX][hapmap]
rs7285863	1.00[ASW][hapmap]
rs9619116	1.00[MEX][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs42929	DUSP18	cis	lymphoblastoid	seeQTL

Chromatin state (count:42 , 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	chr22:30945800-30957400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr22:30946200-30957600	Weak transcription	Spleen	Spleen
5	chr22:30947800-30957600	Weak transcription	Fetal Muscle Leg	muscle
6	chr22:30948400-30961800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr22:30949600-30956800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr22:30950000-30957400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr22:30950200-30957200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:30950600-30969000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr22:30951600-30960200	Weak transcription	Brain Germinal Matrix	brain
12	chr22:30951800-30960200	Weak transcription	Brain Angular Gyrus	brain
13	chr22:30952200-30960400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr22:30952400-30960200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr22:30952600-30961600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr22:30953200-30957400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr22:30953200-30957400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr22:30953200-30958600	Weak transcription	Pancreas	Pancrea
19	chr22:30953200-30960000	Weak transcription	Brain Anterior Caudate	brain
20	chr22:30953400-30960200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr22:30953400-30960200	Weak transcription	Brain Substantia Nigra	brain
22	chr22:30953800-30965200	Weak transcription	Gastric	stomach
23	chr22:30954600-30957600	Weak transcription	Brain Hippocampus Middle	brain
24	chr22:30955600-30956600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr22:30955600-30956600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr22:30955600-30958600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr22:30955600-30958800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr22:30955600-30958800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr22:30955800-30956600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr22:30955800-30956600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr22:30955800-30956600	Flanking Active TSS	HepG2	liver
32	chr22:30955800-30956800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr22:30955800-30956800	Enhancers	K562	blood
34	chr22:30955800-30958000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr22:30956000-30956600	Flanking Active TSS	Fetal Intestine Large	intestine
36	chr22:30956200-30956600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr22:30956200-30956600	Flanking Active TSS	Fetal Intestine Small	intestine
38	chr22:30956200-30958800	Enhancers	A549	lung
39	chr22:30956400-30956600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr22:30956400-30957400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr22:30956400-30957600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr22:30956400-30957600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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