Variant report

Variant	rs190044864
Chromosome Location	chr22:29467881-29467882
allele	A/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	MAX	chr22:29467234-29468090	HepG2	liver:	n/a	chr22:29467687-29467697
2	HDAC2	chr22:29467201-29467930	HepG2	liver:	n/a	n/a
3	E2F6	chr22:29467318-29467971	H1-hESC	embryonic stem cell:	n/a	chr22:29467536-29467548 chr22:29467605-29467614 chr22:29467607-29467617 chr22:29467540-29467550
4	MAX	chr22:29467344-29467925	H1-hESC	embryonic stem cell:	n/a	chr22:29467687-29467697
5	MYC	chr22:29467282-29467952	MCF10A-Er-Src	breast:	n/a	chr22:29467687-29467697
6	POLR2A	chr22:29467188-29468888	PBDE	blood:	n/a	n/a
7	ZNF143	chr22:29467856-29468008	H1-hESC	embryonic stem cell:	n/a	n/a
8	GATA1	chr22:29467561-29468374	PBDE	blood:	n/a	n/a
9	MAZ	chr22:29467498-29468056	GM12878	blood:	n/a	chr22:29467687-29467697
10	E2F6	chr22:29467339-29467969	H1-hESC	embryonic stem cell:	n/a	chr22:29467536-29467548 chr22:29467605-29467614 chr22:29467607-29467617 chr22:29467540-29467550
11	MAX	chr22:29467141-29468028	HepG2	liver:	n/a	chr22:29467148-29467158 chr22:29467687-29467697
12	BHLHE40	chr22:29467696-29467891	GM12878	blood:	n/a	n/a
13	E2F4	chr22:29467374-29468061	MCF10A-Er-Src	breast:	n/a	chr22:29467536-29467548 chr22:29467605-29467614 chr22:29467607-29467617 chr22:29467540-29467550

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: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:118 , 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	chr22:29466600-29468200	Enhancers	Esophagus	oesophagus
4	chr22:29466800-29468600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr22:29467000-29468000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr22:29467000-29468800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr22:29467000-29470400	Enhancers	Fetal Heart	heart
8	chr22:29467200-29468000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr22:29467200-29468000	Active TSS	Brain Anterior Caudate	brain
10	chr22:29467200-29468000	Active TSS	A549	lung
11	chr22:29467200-29468200	Active TSS	Fetal Intestine Large	intestine
12	chr22:29467200-29468400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
13	chr22:29467200-29468400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr22:29467200-29468400	Weak transcription	K562	blood
15	chr22:29467200-29468600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
16	chr22:29467200-29468600	Weak transcription	Gastric	stomach
17	chr22:29467200-29468600	Enhancers	Left Ventricle	heart
18	chr22:29467200-29468800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr22:29467200-29468800	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr22:29467200-29469000	Bivalent Enhancer	Fetal Brain Male	brain
21	chr22:29467200-29470200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr22:29467200-29470400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
23	chr22:29467200-29470400	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr22:29467200-29470600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
25	chr22:29467200-29471200	Active TSS	Ovary	ovary
26	chr22:29467400-29468000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
27	chr22:29467400-29468000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr22:29467400-29468000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr22:29467400-29468000	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr22:29467400-29468000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
31	chr22:29467400-29468000	Bivalent/Poised TSS	Fetal Brain Female	brain
32	chr22:29467400-29468000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
33	chr22:29467400-29468200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr22:29467400-29468200	Active TSS	Brain Angular Gyrus	brain
35	chr22:29467400-29468200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr22:29467400-29468400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr22:29467400-29468800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
38	chr22:29467400-29468800	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr22:29467400-29468800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
40	chr22:29467400-29468800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
41	chr22:29467400-29469600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr22:29467400-29469600	Active TSS	Right Ventricle	heart
43	chr22:29467400-29470000	Active TSS	Aorta	Aorta
44	chr22:29467400-29470200	Active TSS	Psoas Muscle	Psoas
45	chr22:29467400-29470200	Active TSS	Right Atrium	heart
46	chr22:29467600-29468000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr22:29467600-29468000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr22:29467600-29468000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
49	chr22:29467600-29468200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
50	chr22:29467600-29468800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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