Variant report

Variant	rs139348486
Chromosome Location	chr22:30164293-30164294
allele	G/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
2	POLR2A	chr22:30162169-30164469	GM12891	blood:	n/a	n/a
3	POLR2A	chr22:30164088-30164314	K562	blood:	n/a	n/a
4	POLR2A	chr22:30164215-30164639	PFSK-1	brain:	n/a	n/a
5	HCFC1	chr22:30161822-30164418	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr22:30163250-30164600	K562	blood:	n/a	n/a
7	POLR2A	chr22:30162238-30164544	PBDE	blood:	n/a	n/a
8	POLR2A	chr22:30164180-30164518	K562	blood:	n/a	n/a
9	POLR2A	chr22:30162327-30164538	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr22:30162188-30164606	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ZMAT5	TF binding region

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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30161800-30164800	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr22:30162000-30164400	Active TSS	HSMM	muscle
3	chr22:30162000-30164600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr22:30162000-30164600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr22:30162000-30164600	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr22:30162000-30164600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr22:30162000-30164600	Active TSS	A549	lung
8	chr22:30162400-30164400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr22:30162400-30164400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr22:30162400-30164400	Active TSS	K562	blood
11	chr22:30162600-30164400	Active TSS	Lung	lung
12	chr22:30162600-30164400	Active TSS	Right Atrium	heart
13	chr22:30162600-30164600	Active TSS	Left Ventricle	heart
14	chr22:30162800-30164400	Active TSS	Fetal Muscle Trunk	muscle
15	chr22:30162800-30164600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr22:30163400-30164600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr22:30163400-30165000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
18	chr22:30163600-30164400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr22:30163600-30164400	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr22:30163600-30164400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr22:30163600-30164400	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr22:30163600-30164400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr22:30163600-30164600	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr22:30163600-30164600	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr22:30163600-30164600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr22:30163800-30164400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr22:30163800-30164400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr22:30163800-30164400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr22:30163800-30164400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr22:30163800-30164400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr22:30163800-30164400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr22:30163800-30164400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr22:30163800-30164400	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr22:30163800-30164400	Flanking Active TSS	Placenta	Placenta
35	chr22:30163800-30164400	Flanking Active TSS	Thymus	Thymus
36	chr22:30163800-30164600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr22:30163800-30164600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr22:30163800-30164600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr22:30163800-30164600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr22:30163800-30164600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr22:30163800-30164600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr22:30163800-30164600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr22:30163800-30164600	Flanking Active TSS	Liver	Liver
44	chr22:30163800-30164600	Flanking Active TSS	Brain Angular Gyrus	brain
45	chr22:30163800-30164600	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr22:30163800-30164600	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr22:30163800-30164600	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr22:30163800-30164600	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr22:30163800-30164600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr22:30163800-30164600	Flanking Active TSS	Fetal Brain Male	brain

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