Variant report

Variant	rs56325714
Chromosome Location	chr22:30818965-30818966
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:273)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr22:30818774-30820508	ECC-1	luminal epithelium:	n/a	n/a
2	BHLHE40	chr22:30818878-30820426	K562	blood:	n/a	n/a
3	POLR2A	chr22:30818691-30821114	HUVEC	blood vessel:	n/a	n/a
4	TCF12	chr22:30818644-30820552	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr22:30818708-30820390	HepG2	liver:	n/a	n/a
6	POLR2A	chr22:30818696-30821184	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr22:30818930-30820387	MCF-7	breast:	n/a	n/a
8	FOSL2	chr22:30818795-30819361	SK-N-SH	brain:	n/a	chr22:30819045-30819056
9	ARID3A	chr22:30818921-30819226	HepG2	liver:	n/a	n/a
10	POLR2A	chr22:30817434-30821076	HUVEC	blood vessel:	n/a	n/a
11	ZNF263	chr22:30818846-30820399	HEK293-T-REx	kidney:	n/a	n/a
12	MYC	chr22:30818894-30820424	K562	blood:	n/a	n/a
13	HEY1	chr22:30818912-30819419	HepG2	liver:	n/a	n/a
14	UBTF	chr22:30818793-30820446	K562	blood:	n/a	n/a
15	MAX	chr22:30818767-30820600	HepG2	liver:	n/a	n/a
16	ELF1	chr22:30818792-30820450	SK-N-SH	brain:	n/a	n/a
17	FOS	chr22:30818766-30819242	MCF10A-Er-Src	breast:	n/a	chr22:30819046-30819057
18	MAZ	chr22:30818156-30822979	IMR90	lung:	n/a	n/a
19	E2F6	chr22:30818820-30820435	K562	blood:	n/a	n/a
20	EP300	chr22:30818811-30819237	SK-N-SH_RA	brain:	n/a	n/a
21	TAF1	chr22:30818865-30819240	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr22:30818888-30818995	A549	lung:	n/a	n/a
23	JUND	chr22:30818641-30821043	HCT-116	colon:	n/a	chr22:30819046-30819057
24	MAX	chr22:30818943-30820399	HepG2	liver:	n/a	n/a
25	JUND	chr22:30818669-30820679	HCT-116	colon:	n/a	chr22:30819046-30819057
26	NR3C1	chr22:30818655-30819665	A549	lung:	n/a	n/a
27	POLR2A	chr22:30818870-30820359	A549	lung:	n/a	n/a
28	PBX3	chr22:30818727-30819359	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr22:30816349-30821249	IMR90	lung:	n/a	n/a
30	TCF12	chr22:30818679-30820524	ECC-1	luminal epithelium:	n/a	n/a
31	MAFK	chr22:30818698-30819427	Hela-S3	cervix:	n/a	chr22:30818934-30818949
32	POLR2A	chr22:30818871-30822893	MCF10A-Er-Src	breast:	n/a	n/a
33	MAX	chr22:30818941-30820420	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr22:30818645-30822915	Hela-S3	cervix:	n/a	n/a
35	MAX	chr22:30818786-30820516	HepG2	liver:	n/a	n/a
36	USF1	chr22:30818733-30820599	HCT-116	colon:	n/a	n/a
37	POLR2A	chr22:30818961-30820349	Gliobla	brain:	n/a	n/a
38	TAF1	chr22:30818887-30820358	HepG2	liver:	n/a	n/a
39	POLR2A	chr22:30818794-30820501	SK-N-MC	brain:	n/a	n/a
40	POLR2A	chr22:30818456-30821082	GM12891	blood:	n/a	n/a
41	MAX	chr22:30818903-30819160	K562	blood:	n/a	n/a
42	MAFK	chr22:30818801-30819425	H1-hESC	embryonic stem cell:	n/a	chr22:30818934-30818949
43	JUND	chr22:30818781-30819297	K562	blood:	n/a	chr22:30819046-30819057
44	REST	chr22:30818842-30819191	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr22:30817509-30822980	HUVEC	blood vessel:	n/a	n/a
46	MYC	chr22:30818841-30820766	K562	blood:	n/a	n/a
47	MAX	chr22:30818793-30820520	A549	lung:	n/a	n/a
48	POLR2A	chr22:30818838-30820477	PFSK-1	brain:	n/a	n/a
49	CHD1	chr22:30816159-30822993	IMR90	lung:	n/a	n/a
50	POLR2A	chr22:30818198-30821196	GM12878	blood:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30657348..30659862-chr22:30818181..30820409,2	K562	blood:
2	chr22:30781036..30783724-chr22:30818212..30820398,3	K562	blood:
3	chr22:30814763..30819112-chr22:30819393..30823307,5	MCF-7	breast:
4	chr16:10972854..10974355-chr22:30818677..30820180,2	MCF-7	breast:
5	chr22:30683198..30686724-chr22:30818649..30821641,4	K562	blood:
6	chr22:30816361..30822733-chr22:30829064..30833429,8	K562	blood:
7	chr22:30793027..30795107-chr22:30817004..30819701,2	K562	blood:
8	chr22:30783259..30784811-chr22:30818323..30820284,2	MCF-7	breast:
9	chr22:30818699..30820979-chr22:30839778..30841389,2	K562	blood:
10	chr22:30817878..30820177-chr9:95054878..95056786,2	MCF-7	breast:
11	chr22:30780643..30783306-chr22:30818763..30821068,2	MCF-7	breast:
12	chr22:30641395..30644994-chr22:30815782..30819866,5	MCF-7	breast:
13	chr22:30801200..30804661-chr22:30818320..30820212,3	MCF-7	breast:
14	chr22:30791754..30798377-chr22:30814746..30822334,13	K562	blood:
15	chr22:30801331..30806439-chr22:30816907..30821751,5	K562	blood:
16	chr14:35022853..35025221-chr22:30818652..30820159,2	MCF-7	breast:
17	chr22:30647828..30650032-chr22:30818510..30820728,3	MCF-7	breast:
18	chr22:30787731..30797808-chr22:30813672..30825727,31	MCF-7	breast:
19	chr22:30818782..30821257-chr22:30824236..30826444,3	MCF-7	breast:
20	chr22:30805177..30806953-chr22:30818450..30820693,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272689	TF binding region
ENSG00000268538	TF binding region
MTFP1	TF binding region
RNF215	TF binding region
ENSG00000128342	Chromatin interaction
ENSG00000239282	Chromatin interaction
ENSG00000242114	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000268812	Chromatin interaction
ENSG00000100003	Chromatin interaction
ENSG00000196305	Chromatin interaction
ENSG00000203606	Chromatin interaction
ENSG00000249590	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4320024	0.84[EUR][1000 genomes]
rs56094301	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30814800-30819000	Weak transcription	Aorta	Aorta
2	chr22:30816200-30819000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr22:30816200-30819000	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr22:30817000-30819200	Enhancers	Stomach Mucosa	stomach
5	chr22:30817400-30819000	Enhancers	Brain Substantia Nigra	brain
6	chr22:30817600-30819000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr22:30817600-30819000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr22:30817600-30819000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr22:30817800-30819200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr22:30817800-30819800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr22:30818000-30819000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:30818000-30819000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr22:30818000-30819000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr22:30818000-30819000	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr22:30818000-30819000	Transcr. at gene 5' and 3'	Dnd41	blood
16	chr22:30818000-30819000	Flanking Active TSS	Hela-S3	cervix
17	chr22:30818000-30819200	Enhancers	Gastric	stomach
18	chr22:30818000-30819400	Flanking Active TSS	Liver	Liver
19	chr22:30818000-30819400	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr22:30818000-30819600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr22:30818000-30821600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
22	chr22:30818200-30819000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:30818200-30819000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr22:30818200-30819000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr22:30818200-30819000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr22:30818200-30819000	Enhancers	Primary hematopoietic stem cells	blood
27	chr22:30818200-30819000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr22:30818200-30819000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr22:30818200-30819000	Enhancers	Placenta	Placenta
30	chr22:30818200-30819200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr22:30818200-30819200	Enhancers	Lung	lung
32	chr22:30818200-30819200	Enhancers	Small Intestine	intestine
33	chr22:30818200-30819200	Enhancers	Spleen	Spleen
34	chr22:30818200-30819400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr22:30818200-30819400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr22:30818200-30819400	Flanking Active TSS	Rectal Smooth Muscle	rectum
37	chr22:30818200-30819600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr22:30818200-30819600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr22:30818200-30820000	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr22:30818400-30819000	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr22:30818400-30819000	Enhancers	Primary B cells from peripheral blood	blood
42	chr22:30818400-30819000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr22:30818400-30819000	Enhancers	Thymus	Thymus
44	chr22:30818400-30819000	Flanking Active TSS	NHLF	lung
45	chr22:30818400-30819200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr22:30818400-30819200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr22:30818400-30819200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr22:30818400-30819200	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr22:30818400-30819200	Flanking Active TSS	Right Ventricle	heart
50	chr22:30818400-30819200	Enhancers	HMEC	breast

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