Variant report

Variant	rs555451786
Chromosome Location	chr22:31453438-31453439
allele	C/T
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:9)
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	RCOR1	chr22:31453077-31453580	IMR90	lung:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31445856..31448467-chr22:31451849..31454142,3	K562	blood:
2	chr22:31450684..31454190-chr22:31458624..31461519,3	K562	blood:
3	chr22:31449984..31454484-chr22:31456787..31462654,7	K562	blood:
4	chr22:31452690..31454726-chr22:31460173..31463712,3	MCF-7	breast:
5	chr22:31451720..31453462-chr22:31457824..31459739,2	MCF-7	breast:
6	chr22:31363469..31366268-chr22:31450278..31456884,6	MCF-7	breast:
7	chr22:31448944..31454267-chr22:31475725..31482456,15	MCF-7	breast:
8	chr22:31450722..31454659-chr22:31476861..31481048,4	K562	blood:
9	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:34 , 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	chr22:31450800-31453600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr22:31450800-31454600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr22:31451400-31455400	Weak transcription	Right Ventricle	heart
7	chr22:31451600-31453600	Enhancers	Colon Smooth Muscle	Colon
8	chr22:31451600-31453600	Enhancers	A549	lung
9	chr22:31452000-31458000	Weak transcription	Adipose Nuclei	Adipose
10	chr22:31452200-31455600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr22:31452200-31455600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr22:31452200-31455600	Weak transcription	Ovary	ovary
13	chr22:31452200-31455800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr22:31452200-31455800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr22:31452200-31456000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr22:31452200-31456000	Weak transcription	NHEK	skin
17	chr22:31452800-31453800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr22:31452800-31455600	Weak transcription	HMEC	breast
19	chr22:31452800-31456800	Weak transcription	Hela-S3	cervix
20	chr22:31452800-31458200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr22:31453000-31455600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr22:31453000-31455600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr22:31453000-31455600	Weak transcription	Placenta	Placenta
24	chr22:31453200-31453600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr22:31453200-31455400	Weak transcription	Fetal Lung	lung
26	chr22:31453200-31455600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr22:31453200-31455600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr22:31453200-31455600	Weak transcription	Fetal Intestine Large	intestine
29	chr22:31453200-31455600	Weak transcription	Fetal Intestine Small	intestine
30	chr22:31453400-31454200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr22:31453400-31455600	Weak transcription	Fetal Muscle Leg	muscle
32	chr22:31453400-31455600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr22:31453400-31455600	Weak transcription	HepG2	liver
34	chr22:31453400-31455800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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