Variant report

Variant	rs8142085
Chromosome Location	chr22:29624582-29624583
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	POLR2A	chr22:29624503-29625360	PBDE	blood:	n/a	n/a
2	POLR2A	chr22:29624519-29625214	GM12878	blood:	n/a	n/a
3	POLR2A	chr22:29624392-29624954	K562	blood:	n/a	n/a
4	NFATC1	chr22:29624261-29624825	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29622067..29623775-chr22:29624148..29626498,2	K562	blood:

Variant related genes	Relation type
EMID1	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16987316	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4547624	0.98[ASN][1000 genomes]
rs6519779	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8139265	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8143132	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv1809952	chr22:29595349-29661434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv1806500	chr22:29604787-29635071	Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv522714	chr22:29612508-29630337	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv829154	chr22:29617485-29724001	Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29617200-29627800	Weak transcription	Gastric	stomach
2	chr22:29621800-29630200	Weak transcription	Brain Germinal Matrix	brain
3	chr22:29622000-29625800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:29622000-29629000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr22:29622000-29655200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr22:29622000-29655800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr22:29622200-29627200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr22:29622200-29628400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr22:29622200-29629800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr22:29622400-29627800	Strong transcription	Fetal Intestine Small	intestine
11	chr22:29622400-29627800	Weak transcription	Dnd41	blood
12	chr22:29622400-29628200	Weak transcription	Fetal Stomach	stomach
13	chr22:29622400-29628200	Weak transcription	Right Ventricle	heart
14	chr22:29622400-29628400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr22:29622400-29628400	Weak transcription	Right Atrium	heart
16	chr22:29622400-29656600	Weak transcription	Colonic Mucosa	Colon
17	chr22:29622600-29628400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr22:29622600-29628400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr22:29622600-29641400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr22:29622800-29628400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr22:29622800-29628400	Weak transcription	Fetal Intestine Large	intestine
22	chr22:29622800-29628400	Weak transcription	Fetal Lung	lung
23	chr22:29623000-29626600	Weak transcription	Spleen	Spleen
24	chr22:29623000-29628400	Weak transcription	Fetal Muscle Leg	muscle
25	chr22:29623000-29628600	Weak transcription	Fetal Brain Female	brain

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