Variant report

Variant	rs554058617
Chromosome Location	chr22:31454395-31454396
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr22:31454350-31454626	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31449984..31454484-chr22:31456787..31462654,7	K562	blood:
2	chr22:31452690..31454726-chr22:31460173..31463712,3	MCF-7	breast:
3	chr22:31363469..31366268-chr22:31450278..31456884,6	MCF-7	breast:
4	chr22:31450722..31454659-chr22:31476861..31481048,4	K562	blood:
5	chr22:31449294..31454779-chr22:31475265..31480255,11	MCF-7	breast:

No data

Variant related genes	Relation type
RN7SL633P	TF binding region
ENSG00000273387	Chromatin interaction
ENSG00000133422	Chromatin interaction
ENSG00000183963	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv524366	chr22:31440703-31480069	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	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
4	nsv964620	chr22:31452981-31465140	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31441600-31455000	Enhancers	Fetal Stomach	stomach
2	chr22:31443600-31455400	Weak transcription	K562	blood
3	chr22:31450200-31454400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr22:31450800-31454600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr22:31451400-31455400	Weak transcription	Right Ventricle	heart
6	chr22:31452000-31458000	Weak transcription	Adipose Nuclei	Adipose
7	chr22:31452200-31455600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr22:31452200-31455600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr22:31452200-31455600	Weak transcription	Ovary	ovary
10	chr22:31452200-31455800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr22:31452200-31455800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr22:31452200-31456000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr22:31452200-31456000	Weak transcription	NHEK	skin
14	chr22:31452800-31455600	Weak transcription	HMEC	breast
15	chr22:31452800-31456800	Weak transcription	Hela-S3	cervix
16	chr22:31452800-31458200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr22:31453000-31455600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr22:31453000-31455600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr22:31453000-31455600	Weak transcription	Placenta	Placenta
20	chr22:31453200-31455400	Weak transcription	Fetal Lung	lung
21	chr22:31453200-31455600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr22:31453200-31455600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr22:31453200-31455600	Weak transcription	Fetal Intestine Large	intestine
24	chr22:31453200-31455600	Weak transcription	Fetal Intestine Small	intestine
25	chr22:31453400-31455600	Weak transcription	Fetal Muscle Leg	muscle
26	chr22:31453400-31455600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr22:31453400-31455600	Weak transcription	HepG2	liver
28	chr22:31453400-31455800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr22:31453600-31455200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr22:31453600-31455600	Weak transcription	A549	lung
31	chr22:31453800-31454600	Enhancers	Placenta Amnion	Placenta Amnion
32	chr22:31454200-31454400	Enhancers	Stomach Smooth Muscle	stomach

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