Variant report

Variant	rs189578241
Chromosome Location	chr22:29278494-29278495
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	HEY1	chr22:29278402-29279263	HepG2	liver:	n/a	chr22:29278641-29278650
2	MAX	chr22:29278365-29279828	A549	lung:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
3	HCFC1	chr22:29278451-29279798	Hela-S3	cervix:	n/a	n/a
4	MAX	chr22:29278475-29279772	H1-hESC	embryonic stem cell:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
5	MAX	chr22:29278479-29279770	MCF-7	breast:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
6	POLR2A	chr22:29278368-29280058	HepG2	liver:	n/a	n/a
7	POLR2A	chr22:29278465-29281452	H1-hESC	embryonic stem cell:	n/a	n/a
8	MYC	chr22:29278448-29279762	K562	blood:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
9	TBL1XR1	chr22:29278372-29278723	K562	blood:	n/a	n/a
10	MAX	chr22:29278396-29279824	MCF-7	breast:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
11	MAX	chr22:29278401-29279864	HCT-116	colon:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
12	MAX	chr22:29278482-29279182	H1-hESC	embryonic stem cell:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
13	POLR2A	chr22:29278299-29279786	SK-N-MC	brain:	n/a	n/a
14	MAX	chr22:29278410-29280606	ECC-1	luminal epithelium:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29280251-29280258 chr22:29280252-29280261 chr22:29280250-29280259 chr22:29278722-29278729 chr22:29278640-29278651
15	MXI1	chr22:29278143-29281490	SK-N-SH	brain:	n/a	n/a
16	TCF12	chr22:29278476-29279763	ECC-1	luminal epithelium:	n/a	chr22:29279020-29279030
17	BHLHE40	chr22:29278447-29279161	K562	blood:	n/a	chr22:29278642-29278651 chr22:29278641-29278650 chr22:29278641-29278650
18	E2F6	chr22:29278352-29279305	A549	lung:	n/a	chr22:29279132-29279147
19	E2F6	chr22:29278441-29279408	H1-hESC	embryonic stem cell:	n/a	chr22:29279132-29279147
20	MBD4	chr22:29278369-29279022	HepG2	liver:	n/a	n/a
21	FOXA1	chr22:29278140-29278554	HepG2	liver:	n/a	n/a
22	POLR2A	chr22:29278330-29279288	HepG2	liver:	n/a	n/a
23	CTCF	chr22:29278418-29278683	K562	blood:	n/a	chr22:29278552-29278560
24	NRF1	chr22:29278434-29279997	SK-N-SH	brain:	n/a	n/a
25	MAX	chr22:29278350-29279893	A549	lung:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
26	MAX	chr22:29278482-29279320	SK-N-SH	brain:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
27	MYC	chr22:29278468-29279235	HepG2	liver:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
28	MYC	chr22:29278430-29280039	K562	blood:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
29	TCF12	chr22:29278432-29279311	A549	lung:	n/a	chr22:29279020-29279030
30	MAX	chr22:29278474-29279219	K562	blood:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
31	MXI1	chr22:29278311-29280695	IMR90	lung:	n/a	n/a
32	MAX	chr22:29278441-29280912	HepG2	liver:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29280251-29280258 chr22:29280252-29280261 chr22:29280250-29280259 chr22:29278722-29278729 chr22:29278640-29278651
33	MAX	chr22:29278387-29280495	K562	blood:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29280251-29280258 chr22:29280252-29280261 chr22:29280250-29280259 chr22:29278722-29278729 chr22:29278640-29278651
34	MYC	chr22:29278488-29279136	K562	blood:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
35	MAX	chr22:29278335-29279782	HepG2	liver:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
36	POLR2A	chr22:29278439-29279863	K562	blood:	n/a	n/a
37	MAX	chr22:29278343-29279322	ECC-1	luminal epithelium:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651

No.	Distal block	Cell Line	Cell type
1	chr22:29274825..29277296-chr22:29277384..29279241,2	K562	blood:
2	chr22:29210544..29212146-chr22:29276530..29279392,2	MCF-7	breast:
3	chr22:29275977..29281461-chr22:29425203..29430435,9	MCF-7	breast:
4	chr22:29277854..29280834-chr3:15899899..15902425,2	MCF-7	breast:

Variant related genes	Relation type
ZNRF3	TF binding region
ENSG00000206560	Chromatin interaction
ENSG00000177993	Chromatin interaction
ENSG00000272858	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	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
4	nsv3589	chr22:29265164-29288935	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	esv3360361	chr22:29278452-29281300	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	esv3379535	chr22:29278477-29281525	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29276600-29278600	Weak transcription	HSMMtube	muscle
2	chr22:29277200-29278600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr22:29278000-29278600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr22:29278000-29278600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr22:29278000-29278600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr22:29278000-29278600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr22:29278000-29278600	Enhancers	Fetal Muscle Trunk	muscle
8	chr22:29278000-29278600	Enhancers	Fetal Muscle Leg	muscle
9	chr22:29278000-29278600	Enhancers	Right Ventricle	heart
10	chr22:29278000-29278800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr22:29278000-29278800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr22:29278000-29278800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr22:29278000-29278800	Enhancers	Right Atrium	heart
14	chr22:29278200-29278600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
15	chr22:29278200-29278600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
16	chr22:29278200-29278800	Enhancers	Colon Smooth Muscle	Colon
17	chr22:29278200-29278800	Flanking Active TSS	A549	lung
18	chr22:29278200-29279000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
19	chr22:29278400-29278600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:29278400-29278600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr22:29278400-29278600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr22:29278400-29278600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr22:29278400-29278600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr22:29278400-29278600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr22:29278400-29278600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr22:29278400-29278600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr22:29278400-29278600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr22:29278400-29278600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
29	chr22:29278400-29278600	Enhancers	Primary B cells from peripheral blood	blood
30	chr22:29278400-29278600	Active TSS	Primary hematopoietic stem cells	blood
31	chr22:29278400-29278600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr22:29278400-29278600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr22:29278400-29278600	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr22:29278400-29278600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr22:29278400-29278600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr22:29278400-29278600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr22:29278400-29278600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr22:29278400-29278600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr22:29278400-29278600	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr22:29278400-29278600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr22:29278400-29278600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr22:29278400-29278600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr22:29278400-29278600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr22:29278400-29278600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr22:29278400-29278600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr22:29278400-29278600	Enhancers	Liver	Liver
47	chr22:29278400-29278600	Active TSS	Brain Angular Gyrus	brain
48	chr22:29278400-29278600	Enhancers	Brain Germinal Matrix	brain
49	chr22:29278400-29278600	Enhancers	Brain Hippocampus Middle	brain
50	chr22:29278400-29278600	Enhancers	Brain Inferior Temporal Lobe	brain

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