Variant report

Variant	rs16988790
Chromosome Location	chr22:30964428-30964429
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30955935..30957999-chr22:30963622..30965594,2	K562	blood:
2	chr22:30964139..30967338-chr22:30986198..30989265,4	MCF-7	breast:
3	chr22:30961750..30963450-chr22:30963716..30965447,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100029	Chromatin interaction
ENSG00000128242	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12628099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12628608	1.00[EUR][1000 genomes]
rs2301954	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34123894	0.84[ASN][1000 genomes]
rs4149486	1.00[CEU][hapmap]
rs42941	0.94[CHB][hapmap];0.82[JPT][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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30944800-30968000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr22:30950600-30969000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr22:30953800-30965200	Weak transcription	Gastric	stomach
4	chr22:30958000-30969600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr22:30960800-30969800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr22:30961000-30967200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr22:30961000-30967800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr22:30961200-30964600	Weak transcription	Brain Germinal Matrix	brain
9	chr22:30961400-30969400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr22:30961800-30968000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr22:30962200-30965400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr22:30962200-30966200	Weak transcription	Brain Anterior Caudate	brain
13	chr22:30962200-30967000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr22:30962400-30965400	Weak transcription	Brain Substantia Nigra	brain
15	chr22:30962400-30967000	Weak transcription	Liver	Liver
16	chr22:30962600-30967200	Weak transcription	Brain Angular Gyrus	brain
17	chr22:30962600-30967800	Weak transcription	A549	lung
18	chr22:30963200-30967000	Weak transcription	Fetal Intestine Large	intestine
19	chr22:30963400-30966400	Strong transcription	Fetal Intestine Small	intestine
20	chr22:30963600-30967000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr22:30964000-30964600	Enhancers	HepG2	liver
22	chr22:30964000-30964800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr22:30964000-30965400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr22:30964200-30964600	Enhancers	Brain Hippocampus Middle	brain
25	chr22:30964200-30964600	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr22:30964200-30965400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr22:30964200-30968000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr22:30964400-30970000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:30964400-30979600	Weak transcription	K562	blood

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