Variant report

Variant	rs553851404
Chromosome Location	chr22:30164902-30164903
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	chr22:30161918-30164923	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30160959..30163738-chr22:30164422..30168687,4	MCF-7	breast:

Variant related genes	Relation type
ZMAT5	TF binding region
ENSG00000100319	Chromatin interaction
ENSG00000184076	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv3455777	chr22:30163399-30165775	Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	esv3427758	chr22:30163408-30165761	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv3372672	chr22:30163423-30165783	Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv3498901	chr22:30163439-30165723	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv3498902	chr22:30163439-30165723	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv3455776	chr22:30163466-30165704	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv3327609	chr22:30163479-30165716	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv3455774	chr22:30163523-30165670	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv817987	chr22:30163526-30169436	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	esv3455778	chr22:30163537-30165667	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30163400-30165000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
2	chr22:30164000-30165000	Flanking Active TSS	Dnd41	blood
3	chr22:30164200-30165000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr22:30164200-30165600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr22:30164400-30165000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr22:30164400-30165000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr22:30164400-30165000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr22:30164400-30165000	Enhancers	Placenta	Placenta
9	chr22:30164400-30165000	Enhancers	Ovary	ovary
10	chr22:30164400-30165200	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr22:30164400-30165200	Enhancers	Primary hematopoietic stem cells	blood
12	chr22:30164400-30165200	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr22:30164400-30165400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr22:30164400-30165400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr22:30164400-30165600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr22:30164400-30165600	Genic enhancers	Fetal Muscle Leg	muscle
17	chr22:30164400-30165800	Weak transcription	Aorta	Aorta
18	chr22:30164400-30166000	Flanking Active TSS	HepG2	liver
19	chr22:30164400-30166400	Weak transcription	Small Intestine	intestine
20	chr22:30164400-30167400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr22:30164600-30165000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:30164600-30165000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr22:30164600-30165000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr22:30164600-30165000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr22:30164600-30165000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr22:30164600-30165000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr22:30164600-30165000	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr22:30164600-30165000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr22:30164600-30165000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr22:30164600-30165000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr22:30164600-30165000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr22:30164600-30165000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr22:30164600-30165000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr22:30164600-30165000	Enhancers	Brain Angular Gyrus	brain
35	chr22:30164600-30165000	Enhancers	Brain Anterior Caudate	brain
36	chr22:30164600-30165000	Enhancers	Brain Hippocampus Middle	brain
37	chr22:30164600-30165000	Active TSS	Fetal Lung	lung
38	chr22:30164600-30165000	Enhancers	Rectal Smooth Muscle	rectum
39	chr22:30164600-30165000	Weak transcription	A549	lung
40	chr22:30164600-30165000	Enhancers	HMEC	breast
41	chr22:30164600-30165000	Enhancers	HUVEC	blood vessel
42	chr22:30164600-30165000	Enhancers	K562	blood
43	chr22:30164600-30165000	Enhancers	NH-A	brain
44	chr22:30164600-30165000	Weak transcription	Osteobl	bone
45	chr22:30164600-30165200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr22:30164600-30165200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr22:30164600-30165200	Enhancers	Brain Germinal Matrix	brain
48	chr22:30164600-30165200	Enhancers	Colonic Mucosa	Colon
49	chr22:30164600-30165200	Enhancers	Colon Smooth Muscle	Colon
50	chr22:30164600-30165200	Enhancers	Duodenum Mucosa	Duodenum

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