Variant report

Variant	rs55947634
Chromosome Location	chr22:30825270-30825271
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30823322..30825572-chr22:30829369..30832944,6	K562	blood:
2	chr22:30824591..30827043-chr22:30978267..30980699,2	MCF-7	breast:
3	chr22:30818782..30821257-chr22:30824236..30826444,3	MCF-7	breast:
4	chr22:30785688..30789548-chr22:30822700..30827949,4	K562	blood:
5	chr22:30787731..30797808-chr22:30813672..30825727,31	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100003	Chromatin interaction
ENSG00000203606	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs757573	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30822400-30826000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:30822400-30834400	Weak transcription	Small Intestine	intestine
3	chr22:30822600-30825600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr22:30822600-30825600	Weak transcription	Fetal Kidney	kidney
5	chr22:30822600-30827000	Weak transcription	Psoas Muscle	Psoas
6	chr22:30822600-30831600	Weak transcription	Right Atrium	heart
7	chr22:30822600-30832000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr22:30822800-30826400	Weak transcription	NHLF	lung
9	chr22:30822800-30828000	Weak transcription	Fetal Intestine Large	intestine
10	chr22:30822800-30828200	Weak transcription	Ovary	ovary
11	chr22:30822800-30831600	Weak transcription	Right Ventricle	heart
12	chr22:30822800-30832000	Weak transcription	Left Ventricle	heart
13	chr22:30823000-30825600	Strong transcription	Fetal Stomach	stomach
14	chr22:30823000-30825800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr22:30823000-30826000	Strong transcription	Fetal Intestine Small	intestine
16	chr22:30823000-30826400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr22:30823000-30826400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr22:30823000-30827200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr22:30823000-30831000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr22:30823000-30831000	Weak transcription	NH-A	brain
21	chr22:30823000-30831200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr22:30823000-30831200	Weak transcription	Fetal Thymus	thymus
23	chr22:30823000-30831600	Weak transcription	Colonic Mucosa	Colon
24	chr22:30823200-30825400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr22:30823200-30825400	Weak transcription	Adipose Nuclei	Adipose
26	chr22:30823200-30825600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr22:30823200-30825600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr22:30823200-30825800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr22:30823200-30826000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr22:30823200-30826200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr22:30823200-30826800	Weak transcription	Primary B cells from cord blood	blood
32	chr22:30823200-30831000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr22:30823200-30831000	Weak transcription	HUVEC	blood vessel
34	chr22:30823200-30831200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr22:30823200-30831600	Weak transcription	Thymus	Thymus
36	chr22:30823200-30831600	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr22:30823200-30833600	Weak transcription	Stomach Mucosa	stomach
38	chr22:30823400-30825400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr22:30823400-30825600	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr22:30823400-30825600	Strong transcription	Primary T cells from cord blood	blood
41	chr22:30823400-30826000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr22:30823400-30826200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr22:30823400-30828000	Weak transcription	HepG2	liver
44	chr22:30823400-30829600	Weak transcription	HMEC	breast
45	chr22:30823400-30830200	Weak transcription	Lung	lung
46	chr22:30823400-30830800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr22:30823600-30825600	Strong transcription	GM12878-XiMat	blood
48	chr22:30823600-30825800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr22:30823600-30826600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr22:30823600-30826600	Weak transcription	Brain Germinal Matrix	brain

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