Variant report

Variant	rs73408133
Chromosome Location	chr22:31478942-31478943
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	ELF1	chr22:31478569-31478983	K562	blood:	n/a	n/a
2	POLR2A	chr22:31476500-31480070	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr22:31476722-31479551	HUVEC	blood vessel:	n/a	n/a
4	CTCF	chr22:31478699-31478966	MCF-7	breast:	n/a	chr22:31478810-31478826 chr22:31478812-31478822 chr22:31478809-31478827 chr22:31478804-31478825 chr22:31478815-31478824 chr22:31478811-31478824
5	SMC3	chr22:31478530-31479008	HepG2	liver:	n/a	chr22:31478811-31478825 chr22:31478817-31478825
6	POLR2A	chr22:31476749-31479505	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr22:31476756-31481293	K562	blood:	n/a	n/a
8	POLR2A	chr22:31476742-31479351	U87	brain:	n/a	n/a
9	POLR2A	chr22:31476707-31479351	U87	brain:	n/a	n/a
10	POLR2A	chr22:31478493-31479090	HCT-116	colon:	n/a	n/a
11	POLR2A	chr22:31478525-31479145	MCF10A-Er-Src	breast:	n/a	n/a
12	CTCF	chr22:31478693-31478959	GM12892	blood:	n/a	chr22:31478810-31478826 chr22:31478812-31478822 chr22:31478809-31478827 chr22:31478804-31478825 chr22:31478815-31478824 chr22:31478811-31478824
13	CTCF	chr22:31478623-31479028	IMR90	lung:	n/a	chr22:31478810-31478826 chr22:31478812-31478822 chr22:31478809-31478827 chr22:31478804-31478825 chr22:31478815-31478824 chr22:31478811-31478824
14	RAD21	chr22:31478631-31479011	HepG2	liver:	n/a	chr22:31478674-31478683 chr22:31478807-31478826
15	CTCF	chr22:31478604-31479019	A549	lung:	n/a	chr22:31478810-31478826 chr22:31478812-31478822 chr22:31478809-31478827 chr22:31478804-31478825 chr22:31478815-31478824 chr22:31478811-31478824
16	CTCF	chr22:31478639-31479050	K562	blood:	n/a	chr22:31478810-31478826 chr22:31478812-31478822 chr22:31478809-31478827 chr22:31478804-31478825 chr22:31478815-31478824 chr22:31478811-31478824
17	SMC3	chr22:31478647-31478974	Hela-S3	cervix:	n/a	chr22:31478811-31478825 chr22:31478817-31478825
18	RAD21	chr22:31478706-31478964	SK-N-SH_RA	brain:	n/a	chr22:31478807-31478826
19	JUND	chr22:31478679-31478978	K562	blood:	n/a	n/a
20	CTCF	chr22:31478636-31478975	NHEK	skin:	n/a	chr22:31478810-31478826 chr22:31478812-31478822 chr22:31478809-31478827 chr22:31478804-31478825 chr22:31478815-31478824 chr22:31478811-31478824
21	MXI1	chr22:31476182-31479589	IMR90	lung:	n/a	chr22:31476473-31476488
22	CTCF	chr22:31478730-31478949	Medullo	brain:	n/a	chr22:31478810-31478826 chr22:31478812-31478822 chr22:31478809-31478827 chr22:31478804-31478825 chr22:31478815-31478824 chr22:31478811-31478824
23	CTCF	chr22:31478800-31478950	HEEpiC	esophagus:	n/a	chr22:31478810-31478826 chr22:31478812-31478822 chr22:31478809-31478827 chr22:31478804-31478825 chr22:31478815-31478824 chr22:31478811-31478824
24	RFX5	chr22:31478723-31478951	HepG2	liver:	n/a	n/a
25	POLR2A	chr22:31478173-31481418	K562	blood:	n/a	n/a
26	CTCF	chr22:31478703-31478948	HUVEC	blood vessel:	n/a	chr22:31478810-31478826 chr22:31478812-31478822 chr22:31478809-31478827 chr22:31478804-31478825 chr22:31478815-31478824 chr22:31478811-31478824
27	RAD21	chr22:31478523-31479064	H1-hESC	embryonic stem cell:	n/a	chr22:31479014-31479027 chr22:31478674-31478683 chr22:31478807-31478826 chr22:31479016-31479026
28	CTCF	chr22:31478704-31478953	GM19240	blood:	n/a	chr22:31478810-31478826 chr22:31478812-31478822 chr22:31478809-31478827 chr22:31478804-31478825 chr22:31478815-31478824 chr22:31478811-31478824
29	RAD21	chr22:31478514-31479027	MCF-7	breast:	n/a	chr22:31479014-31479027 chr22:31478674-31478683 chr22:31478807-31478826 chr22:31479016-31479026
30	CTCF	chr22:31478709-31478959	Fibrobl	skin:	n/a	chr22:31478810-31478826 chr22:31478812-31478822 chr22:31478809-31478827 chr22:31478804-31478825 chr22:31478815-31478824 chr22:31478811-31478824
31	POLR2A	chr22:31478562-31479140	U87	brain:	n/a	n/a
32	RCOR1	chr22:31478593-31478988	K562	blood:	n/a	n/a
33	CTCF	chr22:31478820-31478970	GM12869	blood:	n/a	n/a
34	MAZ	chr22:31476644-31479105	IMR90	lung:	n/a	n/a
35	CTCF	chr22:31478498-31478991	K562	blood:	n/a	chr22:31478810-31478826 chr22:31478812-31478822 chr22:31478809-31478827 chr22:31478804-31478825 chr22:31478815-31478824 chr22:31478811-31478824
36	POLR2A	chr22:31476526-31481808	K562	blood:	n/a	n/a
37	POLR2A	chr22:31478535-31482422	H1-hESC	embryonic stem cell:	n/a	n/a
38	RAD21	chr22:31478612-31479034	MCF-7	breast:	n/a	chr22:31479014-31479027 chr22:31478674-31478683 chr22:31478807-31478826 chr22:31479016-31479026
39	CTCF	chr22:31478637-31478942	A549	lung:	n/a	chr22:31478810-31478826 chr22:31478812-31478822 chr22:31478809-31478827 chr22:31478804-31478825 chr22:31478815-31478824 chr22:31478811-31478824
40	RCOR1	chr22:31478805-31478955	HepG2	liver:	n/a	n/a
41	CTCF	chr22:31478702-31478954	A549	lung:	n/a	chr22:31478810-31478826 chr22:31478812-31478822 chr22:31478809-31478827 chr22:31478804-31478825 chr22:31478815-31478824 chr22:31478811-31478824
42	CTCF	chr22:31478731-31478955	ProgFib	skin:	n/a	chr22:31478810-31478826 chr22:31478812-31478822 chr22:31478809-31478827 chr22:31478804-31478825 chr22:31478815-31478824 chr22:31478811-31478824
43	CTCF	chr22:31478449-31479141	SK-N-SH	brain:	n/a	chr22:31478810-31478826 chr22:31478812-31478822 chr22:31478809-31478827 chr22:31478804-31478825 chr22:31478815-31478824 chr22:31478811-31478824
44	POLR2A	chr22:31477701-31479254	U87	brain:	n/a	n/a
45	RAD21	chr22:31478636-31478987	H1-hESC	embryonic stem cell:	n/a	chr22:31478674-31478683 chr22:31478807-31478826
46	POLR2A	chr22:31478518-31479042	ECC-1	luminal epithelium:	n/a	n/a
47	ARID3A	chr22:31478758-31478967	K562	blood:	n/a	n/a
48	CTCF	chr22:31478256-31479194	A549	lung:	n/a	chr22:31478810-31478826 chr22:31478812-31478822 chr22:31478809-31478827 chr22:31478804-31478825 chr22:31478815-31478824 chr22:31478811-31478824
49	CTCF	chr22:31478688-31478960	MCF-7	breast:	n/a	chr22:31478810-31478826 chr22:31478812-31478822 chr22:31478809-31478827 chr22:31478804-31478825 chr22:31478815-31478824 chr22:31478811-31478824
50	CTCF	chr22:31478675-31478963	GM19238	blood:	n/a	chr22:31478810-31478826 chr22:31478812-31478822 chr22:31478809-31478827 chr22:31478804-31478825 chr22:31478815-31478824 chr22:31478811-31478824

No.	Distal block	Cell Line	Cell type
1	chr22:31478916..31481331-chr22:31687005..31689174,2	K562	blood:
2	chr22:31476077..31485695-chr22:31490616..31506508,29	K562	blood:
3	chr22:31432480..31433175-chr22:31478482..31479318,2	MCF-7	breast:
4	chr22:31360911..31371148-chr22:31475052..31483145,24	K562	blood:
5	chr22:31360045..31368675-chr22:31475412..31482694,29	K562	blood:
6	chr22:31455769..31462183-chr22:31475245..31482356,13	K562	blood:
7	chr22:31354949..31372607-chr22:31475365..31485377,53	MCF-7	breast:
8	chr22:31458274..31462644-chr22:31476246..31482425,10	K562	blood:
9	chr22:31455775..31461842-chr22:31476267..31480955,13	MCF-7	breast:
10	chr22:31358868..31372302-chr22:31474097..31485545,64	MCF-7	breast:
11	chr22:31477195..31479122-chr22:31617258..31619966,2	MCF-7	breast:
12	chr22:31478816..31484481-chr22:31493390..31497944,7	MCF-7	breast:
13	chr22:31478371..31481367-chr22:31500336..31503939,6	K562	blood:
14	chr22:31352727..31355658-chr22:31478045..31481685,3	MCF-7	breast:
15	chr22:31159719..31160356-chr22:31478339..31479320,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP3-412A9.11.1-1	chr22:31478142-31479551	ENSG00000273387.1

Variant related genes	Relation type
SMTN	TF binding region
ENSG00000240186	Chromatin interaction
ENSG00000228839	Chromatin interaction
ENSG00000198832	Chromatin interaction
ENSG00000183963	Chromatin interaction
ENSG00000253352	Chromatin interaction
ENSG00000199695	Chromatin interaction
ENSG00000184792	Chromatin interaction
ENSG00000100100	Chromatin interaction
ENSG00000133422	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs61443428	0.83[AMR][1000 genomes]
rs61674975	0.83[AMR][1000 genomes]
rs73881308	0.83[AMR][1000 genomes]
rs73881309	0.83[AMR][1000 genomes]
rs8137917	0.83[AMR][1000 genomes]
rs8138862	0.83[AMR][1000 genomes]

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	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv524366	chr22:31440703-31480069	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv914975	chr22:31466083-31514477	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv914976	chr22:31475307-31543260	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv914977	chr22:31477563-31514477	Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31476400-31479200	Active TSS	Fetal Kidney	kidney
2	chr22:31476600-31479200	Active TSS	Aorta	Aorta
3	chr22:31476600-31479200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr22:31476600-31479600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr22:31476600-31480400	Active TSS	Brain Angular Gyrus	brain
6	chr22:31476800-31479000	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr22:31476800-31479000	Active TSS	Gastric	stomach
8	chr22:31476800-31479000	Active TSS	Rectal Smooth Muscle	rectum
9	chr22:31476800-31479000	Active TSS	Right Atrium	heart
10	chr22:31476800-31479200	Active TSS	Brain Anterior Caudate	brain
11	chr22:31476800-31479200	Active TSS	Left Ventricle	heart
12	chr22:31477000-31479000	Active TSS	Lung	lung
13	chr22:31477000-31479400	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr22:31477000-31479400	Active TSS	Brain Substantia Nigra	brain
15	chr22:31477000-31481600	Active TSS	Psoas Muscle	Psoas
16	chr22:31477400-31479200	Flanking Active TSS	Dnd41	blood
17	chr22:31477400-31480800	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr22:31477600-31479000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr22:31477600-31479800	Flanking Active TSS	Stomach Mucosa	stomach
20	chr22:31477600-31480600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr22:31477600-31480600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr22:31477600-31480600	Flanking Active TSS	Hela-S3	cervix
23	chr22:31477800-31479200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr22:31477800-31479200	Active TSS	Brain Hippocampus Middle	brain
25	chr22:31477800-31479200	Flanking Active TSS	Esophagus	oesophagus
26	chr22:31477800-31479200	Flanking Active TSS	Fetal Lung	lung
27	chr22:31477800-31479200	Flanking Active TSS	A549	lung
28	chr22:31477800-31479400	Flanking Active TSS	HUVEC	blood vessel
29	chr22:31477800-31480000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr22:31477800-31480000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr22:31477800-31480000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr22:31477800-31480000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr22:31477800-31480000	Enhancers	Primary B cells from peripheral blood	blood
34	chr22:31477800-31480200	Enhancers	Primary T cells fromperipheralblood	blood
35	chr22:31477800-31480200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr22:31477800-31480200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr22:31477800-31480200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr22:31477800-31480400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr22:31477800-31480600	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr22:31477800-31480800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr22:31477800-31482000	Flanking Active TSS	NH-A	brain
42	chr22:31478000-31479000	Enhancers	Primary B cells from cord blood	blood
43	chr22:31478000-31479000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr22:31478000-31479000	Flanking Active TSS	Ovary	ovary
45	chr22:31478000-31479000	Flanking Active TSS	HepG2	liver
46	chr22:31478000-31479200	Flanking Active TSS	Fetal Intestine Large	intestine
47	chr22:31478000-31479400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr22:31478000-31479400	Active TSS	Right Ventricle	heart
49	chr22:31478000-31480000	Enhancers	Primary hematopoietic stem cells	blood
50	chr22:31478000-31480000	Enhancers	Primary T helper naive cells from peripheral blood	blood

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