Variant report

Variant	rs528281649
Chromosome Location	chr22:31453023-31453024
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 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	chr22:31360377..31363179-chr22:31451258..31453241,3	K562	blood:
5	chr22:31452690..31454726-chr22:31460173..31463712,3	MCF-7	breast:
6	chr22:31451720..31453462-chr22:31457824..31459739,2	MCF-7	breast:
7	chr22:31363469..31366268-chr22:31450278..31456884,6	MCF-7	breast:
8	chr22:31448944..31454267-chr22:31475725..31482456,15	MCF-7	breast:
9	chr22:31450722..31454659-chr22:31476861..31481048,4	K562	blood:
10	chr22:31362787..31366384-chr22:31450123..31453347,3	MCF-7	breast:
11	chr22:31449294..31454779-chr22:31475265..31480255,11	MCF-7	breast:
12	chr22:31432776..31435079-chr22:31450665..31453170,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000133422	Chromatin interaction
ENSG00000183963	Chromatin interaction
ENSG00000273387	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31440000-31453200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr22:31441600-31455000	Enhancers	Fetal Stomach	stomach
3	chr22:31443600-31455400	Weak transcription	K562	blood
4	chr22:31449200-31453400	Enhancers	Fetal Muscle Leg	muscle
5	chr22:31449800-31453200	Enhancers	Fetal Lung	lung
6	chr22:31450200-31454400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr22:31450800-31453200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr22:31450800-31453200	Enhancers	Fetal Intestine Small	intestine
9	chr22:31450800-31453600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr22:31450800-31454600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr22:31451000-31453200	Enhancers	Fetal Intestine Large	intestine
12	chr22:31451000-31453400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr22:31451000-31453400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr22:31451400-31455400	Weak transcription	Right Ventricle	heart
15	chr22:31451600-31453400	Enhancers	Rectal Smooth Muscle	rectum
16	chr22:31451600-31453600	Enhancers	Colon Smooth Muscle	Colon
17	chr22:31451600-31453600	Enhancers	A549	lung
18	chr22:31452000-31453200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr22:31452000-31458000	Weak transcription	Adipose Nuclei	Adipose
20	chr22:31452200-31453200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr22:31452200-31453200	Weak transcription	Lung	lung
22	chr22:31452200-31453400	Enhancers	Stomach Smooth Muscle	stomach
23	chr22:31452200-31453400	Enhancers	HepG2	liver
24	chr22:31452200-31455600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr22:31452200-31455600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr22:31452200-31455600	Weak transcription	Ovary	ovary
27	chr22:31452200-31455800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr22:31452200-31455800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr22:31452200-31456000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr22:31452200-31456000	Weak transcription	NHEK	skin
31	chr22:31452800-31453200	Enhancers	Fetal Heart	heart
32	chr22:31452800-31453800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr22:31452800-31455600	Weak transcription	HMEC	breast
34	chr22:31452800-31456800	Weak transcription	Hela-S3	cervix
35	chr22:31452800-31458200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr22:31453000-31453400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr22:31453000-31455600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr22:31453000-31455600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr22:31453000-31455600	Weak transcription	Placenta	Placenta

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