Variant report

Variant	rs186358882
Chromosome Location	chr22:29468352-29468353
allele	A/G
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	RCOR1	chr22:29468270-29468577	HepG2	liver:	n/a	n/a
2	ZEB1	chr22:29468264-29469115	HepG2	liver:	n/a	chr22:29468767-29468774 chr22:29468824-29468831 chr22:29468765-29468774
3	POLR2A	chr22:29467188-29468888	PBDE	blood:	n/a	n/a
4	NRF1	chr22:29468267-29469153	SK-N-SH	brain:	n/a	n/a
5	MAZ	chr22:29468246-29469517	IMR90	lung:	n/a	chr22:29469230-29469240 chr22:29469294-29469304
6	GATA1	chr22:29467561-29468374	PBDE	blood:	n/a	n/a
7	CBX3	chr22:29468342-29468790	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29279568..29281765-chr22:29467462..29470387,2	K562	blood:

Variant related genes	Relation type
KREMEN1	TF binding region
ENSG00000183579	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv524259	chr22:29467221-29482221	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv3350194	chr22:29468252-29470350	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29463800-29468400	Weak transcription	Dnd41	blood
2	chr22:29465800-29468400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr22:29466800-29468600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr22:29467000-29468800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr22:29467000-29470400	Enhancers	Fetal Heart	heart
6	chr22:29467200-29468400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
7	chr22:29467200-29468400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr22:29467200-29468400	Weak transcription	K562	blood
9	chr22:29467200-29468600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
10	chr22:29467200-29468600	Weak transcription	Gastric	stomach
11	chr22:29467200-29468600	Enhancers	Left Ventricle	heart
12	chr22:29467200-29468800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr22:29467200-29468800	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr22:29467200-29469000	Bivalent Enhancer	Fetal Brain Male	brain
15	chr22:29467200-29470200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr22:29467200-29470400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr22:29467200-29470400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr22:29467200-29470600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
19	chr22:29467200-29471200	Active TSS	Ovary	ovary
20	chr22:29467400-29468400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr22:29467400-29468800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
22	chr22:29467400-29468800	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr22:29467400-29468800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
24	chr22:29467400-29468800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
25	chr22:29467400-29469600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr22:29467400-29469600	Active TSS	Right Ventricle	heart
27	chr22:29467400-29470000	Active TSS	Aorta	Aorta
28	chr22:29467400-29470200	Active TSS	Psoas Muscle	Psoas
29	chr22:29467400-29470200	Active TSS	Right Atrium	heart
30	chr22:29467600-29468800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr22:29467600-29468800	Flanking Active TSS	Liver	Liver
32	chr22:29467600-29468800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr22:29467600-29468800	Flanking Bivalent TSS/Enh	Thymus	Thymus
34	chr22:29467600-29470400	Active TSS	HSMM	muscle
35	chr22:29467800-29468400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:29467800-29468400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr22:29467800-29468400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr22:29467800-29468400	Enhancers	Placenta Amnion	Placenta Amnion
39	chr22:29467800-29468600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr22:29467800-29468600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr22:29467800-29468600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
42	chr22:29467800-29468600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
43	chr22:29467800-29468600	Enhancers	Pancreas	Pancrea
44	chr22:29467800-29468600	Flanking Active TSS	Stomach Mucosa	stomach
45	chr22:29467800-29468600	Enhancers	Spleen	Spleen
46	chr22:29467800-29468600	Active TSS	GM12878-XiMat	blood
47	chr22:29467800-29468800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr22:29467800-29468800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr22:29467800-29468800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
50	chr22:29467800-29468800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood

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