Variant report

Variant	rs42935
Chromosome Location	chr22:30962742-30962743
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30962446..30964348-chr22:30968685..30970378,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128242	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs42938	0.84[EUR][1000 genomes]
rs42939	0.81[EUR][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	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	chr22:30958200-30964000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr22:30960800-30963200	Enhancers	Fetal Intestine Large	intestine
7	chr22:30960800-30969800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr22:30961000-30967200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr22:30961000-30967800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr22:30961200-30964000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr22:30961200-30964200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr22:30961200-30964600	Weak transcription	Brain Germinal Matrix	brain
13	chr22:30961400-30969400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr22:30961800-30963200	Enhancers	Fetal Intestine Small	intestine
15	chr22:30961800-30968000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr22:30962000-30964000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:30962000-30964000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:30962200-30965400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr22:30962200-30966200	Weak transcription	Brain Anterior Caudate	brain
20	chr22:30962200-30967000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr22:30962400-30963000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr22:30962400-30964200	Weak transcription	Brain Hippocampus Middle	brain
23	chr22:30962400-30964200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr22:30962400-30965400	Weak transcription	Brain Substantia Nigra	brain
25	chr22:30962400-30967000	Weak transcription	Liver	Liver
26	chr22:30962600-30962800	Enhancers	HepG2	liver
27	chr22:30962600-30963400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr22:30962600-30967200	Weak transcription	Brain Angular Gyrus	brain
29	chr22:30962600-30967800	Weak transcription	A549	lung

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