Variant report

Variant	rs4820942
Chromosome Location	chr22:31519847-31519848
allele	A/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	chr22:31519831-31519868	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:31519059..31520976-chr22:31535041..31537963,2	K562	blood:
2	chr22:31519081..31520607-chr22:31520876..31523639,2	MCF-7	breast:
3	chr22:31516943..31520253-chr22:31521243..31524070,4	K562	blood:
4	chr22:31519012..31520650-chr22:31555414..31558501,3	MCF-7	breast:

Variant related genes	Relation type
INPP5J	TF binding region
ENSG00000198832	TF binding region
ENSG00000100078	Chromatin interaction
ENSG00000138942	Chromatin interaction
ENSG00000185133	Chromatin interaction
ENSG00000264141	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10304	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs12484094	0.99[ASN][1000 genomes]
rs2072193	0.82[CEU][hapmap]
rs2074735	0.82[CEU][hapmap]
rs2267167	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs2283875	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs2283877	0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs5753454	0.86[CHB][hapmap]
rs5753458	0.88[ASN][1000 genomes]
rs5753465	0.84[ASN][1000 genomes]
rs5753466	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs8140524	0.87[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv914976	chr22:31475307-31543260	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31518200-31520200	Enhancers	Fetal Brain Male	brain
2	chr22:31518400-31520000	Flanking Active TSS	Hela-S3	cervix
3	chr22:31518600-31520000	Active TSS	Brain Hippocampus Middle	brain
4	chr22:31518800-31520000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr22:31519000-31521400	Weak transcription	Spleen	Spleen
6	chr22:31519200-31520000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr22:31519200-31520000	Active TSS	Rectal Smooth Muscle	rectum
8	chr22:31519200-31520000	Active TSS	Right Atrium	heart
9	chr22:31519200-31527600	Weak transcription	Esophagus	oesophagus
10	chr22:31519200-31532600	Weak transcription	Ovary	ovary
11	chr22:31519400-31520000	Active TSS	Brain Angular Gyrus	brain
12	chr22:31519400-31522800	Weak transcription	K562	blood
13	chr22:31519400-31535400	Weak transcription	Lung	lung
14	chr22:31519600-31520000	Enhancers	Fetal Heart	heart
15	chr22:31519600-31520000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
16	chr22:31519600-31520000	Active TSS	Pancreas	Pancrea
17	chr22:31519600-31520000	Enhancers	Stomach Mucosa	stomach
18	chr22:31519600-31520200	Active TSS	Fetal Brain Female	brain
19	chr22:31519600-31521000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr22:31519600-31522600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr22:31519600-31522600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr22:31519600-31522800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr22:31519600-31522800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr22:31519600-31522800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr22:31519600-31523200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr22:31519600-31523200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr22:31519600-31523400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr22:31519600-31536000	Weak transcription	Brain Germinal Matrix	brain
29	chr22:31519800-31520000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr22:31519800-31520000	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr22:31519800-31520200	Active TSS	Colonic Mucosa	Colon
32	chr22:31519800-31520200	Active TSS	Duodenum Mucosa	Duodenum
33	chr22:31519800-31520200	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr22:31519800-31520400	Weak transcription	Right Ventricle	heart
35	chr22:31519800-31520400	Enhancers	Stomach Smooth Muscle	stomach
36	chr22:31519800-31520600	Enhancers	Fetal Intestine Large	intestine
37	chr22:31519800-31520600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr22:31519800-31522400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr22:31519800-31522600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr22:31519800-31522600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr22:31519800-31524200	Weak transcription	Left Ventricle	heart
42	chr22:31519800-31525600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr22:31519800-31527600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr22:31519800-31528800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr22:31519800-31531600	Weak transcription	Brain Anterior Caudate	brain
46	chr22:31519800-31532000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr22:31519800-31532800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr22:31519800-31536000	Weak transcription	Gastric	stomach

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