Variant report

Variant	rs147762886
Chromosome Location	chr22:29601498-29601499
allele	A/C
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	chr22:29601197-29601741	GM12878	blood:	n/a	n/a
2	ZNF143	chr22:29601278-29602229	GM12878	blood:	n/a	chr22:29601809-29601819
3	TCF12	chr22:29601416-29602279	ECC-1	luminal epithelium:	n/a	chr22:29601737-29601744 chr22:29601937-29601947
4	TBL1XR1	chr22:29601306-29601499	K562	blood:	n/a	n/a
5	ELF1	chr22:29601189-29602113	HCT-116	colon:	n/a	chr22:29601791-29601802
6	CTCF	chr22:29601407-29601531	GM19239	blood:	n/a	n/a
7	CTCF	chr22:29601459-29601527	A549	lung:	n/a	n/a
8	RCOR1	chr22:29601063-29602239	K562	blood:	n/a	n/a
9	MYC	chr22:29601370-29602483	NB4	blood:	n/a	chr22:29601719-29601728
10	MXI1	chr22:29601331-29602700	GM12878	blood:	n/a	n/a
11	ELF1	chr22:29601254-29602474	GM12878	blood:	n/a	chr22:29601791-29601802
12	MAZ	chr22:29600764-29602981	K562	blood:	n/a	chr22:29601719-29601728
13	ZEB1	chr22:29601284-29601833	GM12878	blood:	n/a	chr22:29601588-29601600 chr22:29601591-29601598 chr22:29601590-29601599
14	RUNX3	chr22:29600916-29601597	GM12878	blood:	n/a	n/a
15	E2F6	chr22:29601398-29601536	K562	blood:	n/a	n/a
16	MAZ	chr22:29600577-29602661	GM12878	blood:	n/a	chr22:29601719-29601728
17	GTF2F1	chr22:29601435-29601508	H1-hESC	embryonic stem cell:	n/a	n/a
18	MYC	chr22:29601315-29602566	K562	blood:	n/a	chr22:29601719-29601728
19	CBX3	chr22:29601251-29601604	K562	blood:	n/a	n/a
20	JUND	chr22:29601388-29601739	K562	blood:	n/a	n/a
21	MTA3	chr22:29600839-29601520	GM12878	blood:	n/a	n/a
22	SIN3A	chr22:29601391-29601765	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr22:29599562-29605938	PBDE	blood:	n/a	n/a
24	POLR2A	chr22:29601474-29602486	GM18951	blood:	n/a	n/a
25	BHLHE40	chr22:29601418-29601614	K562	blood:	n/a	n/a
26	MAX	chr22:29601333-29601533	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr22:29601460-29601610	GM12872	blood:	n/a	n/a
28	MAZ	chr22:29601436-29602575	IMR90	lung:	n/a	chr22:29601719-29601728
29	MAX	chr22:29601261-29601768	H1-hESC	embryonic stem cell:	n/a	chr22:29601719-29601728
30	STAT5A	chr22:29601067-29601749	GM12878	blood:	n/a	n/a
31	RCOR1	chr22:29601239-29601534	K562	blood:	n/a	n/a
32	CTCF	chr22:29601445-29601565	GM12891	blood:	n/a	n/a
33	SIN3A	chr22:29601466-29601786	GM12878	blood:	n/a	n/a
34	CHD2	chr22:29601267-29601813	GM12878	blood:	n/a	chr22:29601687-29601697
35	MXI1	chr22:29601498-29602543	IMR90	lung:	n/a	n/a
36	ZNF143	chr22:29601227-29601581	H1-hESC	embryonic stem cell:	n/a	n/a
37	ZNF143	chr22:29601257-29601599	K562	blood:	n/a	n/a
38	MYC	chr22:29601377-29602435	K562	blood:	n/a	chr22:29601719-29601728
39	TCF3	chr22:29601467-29602132	GM12878	blood:	n/a	n/a
40	MAX	chr22:29601213-29601826	K562	blood:	n/a	chr22:29601719-29601728

No.	Distal block	Cell Line	Cell type
1	chr13:60970151..60970804-chr22:29601495..29602051,2	HCT-116	colon:
2	chr22:29600704..29601509-chr22:29641190..29641939,2	MCF-7	breast:
3	chr22:29601210..29603979-chr22:29627327..29629637,2	K562	blood:
4	chr22:29599772..29601516-chr22:29662820..29665325,2	K562	blood:

Variant related genes	Relation type
EMID1	TF binding region
ENSG00000182944	Chromatin interaction
ENSG00000100263	Chromatin interaction
ENSG00000186998	Chromatin interaction
ENSG00000083544	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv914958	chr22:29586058-29620599	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1809952	chr22:29595349-29661434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	esv3344633	chr22:29601102-29603000	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29596400-29601600	Enhancers	Spleen	Spleen
2	chr22:29597800-29601800	Flanking Active TSS	Dnd41	blood
3	chr22:29598400-29601600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr22:29598800-29602000	Weak transcription	Brain Angular Gyrus	brain
5	chr22:29599000-29601600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr22:29599000-29601600	Weak transcription	Esophagus	oesophagus
7	chr22:29599000-29601600	Weak transcription	Left Ventricle	heart
8	chr22:29599000-29601600	Weak transcription	Right Atrium	heart
9	chr22:29599200-29602200	Weak transcription	Small Intestine	intestine
10	chr22:29599400-29601600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr22:29600200-29601800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr22:29600200-29601800	Flanking Active TSS	GM12878-XiMat	blood
13	chr22:29600400-29601600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:29600400-29601800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr22:29600400-29602000	Enhancers	Brain Substantia Nigra	brain
16	chr22:29600600-29603600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr22:29600800-29602000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
18	chr22:29600800-29603000	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr22:29601000-29601600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
20	chr22:29601000-29601600	Flanking Active TSS	K562	blood
21	chr22:29601000-29601800	Enhancers	Fetal Lung	lung
22	chr22:29601000-29602400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr22:29601000-29602800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
24	chr22:29601000-29603400	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr22:29601200-29601600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr22:29601200-29601600	Flanking Active TSS	Fetal Intestine Large	intestine
27	chr22:29601200-29601600	Flanking Active TSS	Fetal Intestine Small	intestine
28	chr22:29601200-29601600	Enhancers	Right Ventricle	heart
29	chr22:29601200-29601800	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr22:29601200-29602200	Enhancers	Fetal Brain Male	brain
31	chr22:29601200-29602600	Active TSS	A549	lung
32	chr22:29601200-29602800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
33	chr22:29601200-29603400	Active TSS	Fetal Kidney	kidney
34	chr22:29601200-29603400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
35	chr22:29601400-29601600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
36	chr22:29601400-29601600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr22:29601400-29601600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr22:29601400-29601600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr22:29601400-29601600	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr22:29601400-29601600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr22:29601400-29601600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr22:29601400-29601600	Bivalent Enhancer	Adipose Nuclei	Adipose
43	chr22:29601400-29601600	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr22:29601400-29601600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
45	chr22:29601400-29601600	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr22:29601400-29601600	Active TSS	Fetal Brain Female	brain
47	chr22:29601400-29601600	Flanking Active TSS	Fetal Stomach	stomach
48	chr22:29601400-29601600	Flanking Active TSS	Lung	lung
49	chr22:29601400-29601600	Flanking Active TSS	Pancreas	Pancrea
50	chr22:29601400-29601600	Enhancers	Skeletal Muscle Male	skeletal muscle

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