Variant report

Variant	rs13055676
Chromosome Location	chr22:29704883-29704884
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	MAZ	chr22:29704633-29705541	IMR90	lung:	n/a	chr22:29705377-29705387
2	TEAD4	chr22:29704572-29705249	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr22:29704727-29704924	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr22:29704725-29705125	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr22:29704685-29705128	HUVEC	blood vessel:	n/a	n/a
6	MYC	chr22:29704827-29705027	MCF10A-Er-Src	breast:	n/a	chr22:29704846-29704856
7	POLR2A	chr22:29704811-29705086	HUVEC	blood vessel:	n/a	n/a
8	NFIC	chr22:29704577-29705675	ECC-1	luminal epithelium:	n/a	n/a
9	TCF12	chr22:29704500-29705804	ECC-1	luminal epithelium:	n/a	n/a
10	FOS	chr22:29704807-29705021	MCF10A-Er-Src	breast:	n/a	n/a
11	EP300	chr22:29704594-29705669	ECC-1	luminal epithelium:	n/a	n/a
12	MAX	chr22:29704109-29705465	ECC-1	luminal epithelium:	n/a	chr22:29704846-29704856 chr22:29705377-29705387
13	MYC	chr22:29704737-29704969	HUVEC	blood vessel:	n/a	chr22:29704846-29704856
14	ESR1	chr22:29704579-29704970	ECC-1	luminal epithelium:	n/a	n/a
15	TCF12	chr22:29704447-29705893	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr22:29704769-29704910	Gliobla	brain:	n/a	n/a
17	NR3C1	chr22:29704838-29705066	ECC-1	luminal epithelium:	n/a	n/a
18	MYC	chr22:29704300-29705071	MCF10A-Er-Src	breast:	n/a	chr22:29704846-29704856
19	POLR2A	chr22:29704620-29705079	HUVEC	blood vessel:	n/a	n/a
20	EP300	chr22:29704049-29705881	ECC-1	luminal epithelium:	n/a	n/a
21	MAX	chr22:29704160-29705218	ECC-1	luminal epithelium:	n/a	chr22:29704846-29704856
22	CEBPB	chr22:29704863-29705003	IMR90	lung:	n/a	n/a
23	GATA1	chr22:29704769-29705831	PBDE	blood:	n/a	chr22:29705411-29705427 chr22:29705413-29705425 chr22:29705535-29705545 chr22:29705456-29705465
24	MYC	chr22:29704720-29704903	K562	blood:	n/a	chr22:29704846-29704856
25	FOS	chr22:29704795-29705049	MCF10A-Er-Src	breast:	n/a	chr22:29705038-29705047
26	ESR1	chr22:29704576-29705114	ECC-1	luminal epithelium:	n/a	n/a
27	FOS	chr22:29704733-29705133	HUVEC	blood vessel:	n/a	chr22:29705038-29705047
28	ZBTB7A	chr22:29704372-29705133	ECC-1	luminal epithelium:	n/a	n/a
29	MAX	chr22:29703959-29705178	NB4	blood:	n/a	chr22:29704846-29704856
30	POLR2A	chr22:29704605-29705072	ECC-1	luminal epithelium:	n/a	n/a
31	FOS	chr22:29704789-29705058	MCF10A-Er-Src	breast:	n/a	chr22:29705038-29705047
32	ZBTB7A	chr22:29704156-29706082	ECC-1	luminal epithelium:	n/a	chr22:29705728-29705736
33	ESR1	chr22:29704707-29705005	ECC-1	luminal epithelium:	n/a	n/a
34	MYC	chr22:29704368-29705133	NB4	blood:	n/a	chr22:29704846-29704856
35	POLR2A	chr22:29703776-29705696	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr22:29704746-29705110	GM12878	blood:	n/a	n/a
37	TEAD4	chr22:29704622-29705211	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:29702549..29705407-chr22:29734900..29738437,3	MCF-7	breast:
2	chr22:29660929..29666447-chr22:29700529..29705135,9	K562	blood:
3	chr22:29703109..29706869-chr22:29711325..29716000,5	K562	blood:
4	chr22:29704698..29709036-chr22:29709270..29712865,10	MCF-7	breast:
5	chr22:29663790..29666249-chr22:29704242..29708353,4	K562	blood:

Variant related genes	Relation type
GAS2L1	TF binding region
ENSG00000100263	Chromatin interaction
ENSG00000182944	Chromatin interaction
ENSG00000100276	Chromatin interaction
ENSG00000273216	Chromatin interaction
ENSG00000100280	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11539373	1.00[ASN][1000 genomes]
rs13056227	1.00[ASN][1000 genomes]
rs13056534	1.00[ASN][1000 genomes]
rs34091309	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34583478	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34662558	1.00[ASN][1000 genomes]
rs71329479	0.84[EUR][1000 genomes]
rs8136401	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv829154	chr22:29617485-29724001	Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv829155	chr22:29664396-29724001	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	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
6	nsv914959	chr22:29696438-29712874	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv914960	chr22:29696438-29714069	Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29702000-29705600	Active TSS	Fetal Brain Female	brain
2	chr22:29702000-29707800	Enhancers	Fetal Heart	heart
3	chr22:29702800-29706400	Weak transcription	GM12878-XiMat	blood
4	chr22:29703000-29706400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr22:29703200-29705000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr22:29703200-29707600	Enhancers	Fetal Brain Male	brain
7	chr22:29703400-29705000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr22:29703400-29705600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr22:29703400-29705600	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr22:29703400-29705600	Flanking Active TSS	Osteobl	bone
11	chr22:29703400-29705800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr22:29703400-29705800	Flanking Active TSS	NH-A	brain
13	chr22:29703600-29705200	Flanking Active TSS	Esophagus	oesophagus
14	chr22:29703600-29705400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr22:29703600-29705400	Flanking Active TSS	NHEK	skin
16	chr22:29703600-29705600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr22:29703600-29705600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr22:29703600-29705600	Flanking Active TSS	HMEC	breast
19	chr22:29703600-29705800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr22:29703600-29705800	Flanking Active TSS	Colon Smooth Muscle	Colon
21	chr22:29703600-29705800	Enhancers	Placenta Amnion	Placenta Amnion
22	chr22:29703600-29705800	Flanking Active TSS	Rectal Smooth Muscle	rectum
23	chr22:29703600-29706000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr22:29703600-29706000	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr22:29703600-29706000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr22:29703600-29706000	Flanking Active TSS	Hela-S3	cervix
27	chr22:29703600-29706800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr22:29703600-29707600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr22:29703600-29707800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr22:29703600-29708000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr22:29703800-29705000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr22:29703800-29705000	Enhancers	Stomach Mucosa	stomach
33	chr22:29703800-29705000	Enhancers	HepG2	liver
34	chr22:29703800-29705200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr22:29703800-29705200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr22:29703800-29705200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
37	chr22:29703800-29705200	Enhancers	Brain Substantia Nigra	brain
38	chr22:29703800-29705400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr22:29703800-29705400	Bivalent Enhancer	Fetal Thymus	thymus
40	chr22:29703800-29706800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr22:29703800-29706800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr22:29703800-29706800	Weak transcription	Aorta	Aorta
43	chr22:29703800-29707000	Genic enhancers	Fetal Intestine Small	intestine
44	chr22:29703800-29707000	Enhancers	Small Intestine	intestine
45	chr22:29703800-29707600	Enhancers	Fetal Intestine Large	intestine
46	chr22:29703800-29708000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr22:29703800-29708400	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr22:29703800-29709400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr22:29704000-29705200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr22:29704000-29705400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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