Variant report

Variant	rs7286258
Chromosome Location	chr22:30821482-30821483
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:118)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:118 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr22:30821459-30822418	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr22:30821455-30821995	H1-hESC	embryonic stem cell:	n/a	n/a
3	USF1	chr22:30821399-30822072	SK-N-SH	brain:	n/a	n/a
4	ZBTB7A	chr22:30821421-30822397	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr22:30820904-30822814	HUVEC	blood vessel:	n/a	n/a
6	BCLAF1	chr22:30821481-30822029	GM12878	blood:	n/a	n/a
7	MAZ	chr22:30818156-30822979	IMR90	lung:	n/a	n/a
8	E2F6	chr22:30821412-30821583	K562	blood:	n/a	n/a
9	NR2F2	chr22:30821482-30822906	MCF-7	breast:	n/a	n/a
10	PBX3	chr22:30821471-30822077	SK-N-SH	brain:	n/a	n/a
11	STAT1	chr22:30821470-30822225	Hela-S3	cervix:	n/a	n/a
12	IRF3	chr22:30821475-30821865	HepG2	liver:	n/a	n/a
13	POLR2A	chr22:30818871-30822893	MCF10A-Er-Src	breast:	n/a	n/a
14	MAX	chr22:30821323-30823007	A549	lung:	n/a	n/a
15	POLR2A	chr22:30818645-30822915	Hela-S3	cervix:	n/a	n/a
16	USF1	chr22:30821464-30821889	A549	lung:	n/a	n/a
17	POLR2A	chr22:30821373-30822355	HL-60	blood:	n/a	n/a
18	SIN3A	chr22:30821427-30822885	H1-hESC	embryonic stem cell:	n/a	n/a
19	RUNX3	chr22:30821410-30822824	GM12878	blood:	n/a	n/a
20	POLR2A	chr22:30817509-30822980	HUVEC	blood vessel:	n/a	n/a
21	CHD1	chr22:30816159-30822993	IMR90	lung:	n/a	n/a
22	SMC3	chr22:30821471-30822907	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr22:30821465-30822902	GM12878	blood:	n/a	n/a
24	MAX	chr22:30821385-30822316	H1-hESC	embryonic stem cell:	n/a	n/a
25	TCF12	chr22:30821393-30822937	A549	lung:	n/a	n/a
26	POLR2A	chr22:30821457-30822761	GM12892	blood:	n/a	n/a
27	POLR2A	chr22:30816245-30822974	PBDE	blood:	n/a	n/a
28	REST	chr22:30821443-30822277	H1-neurons	neurons:	n/a	chr22:30821683-30821696 chr22:30822142-30822155
29	POLR2A	chr22:30821449-30822190	K562	blood:	n/a	n/a
30	POLR2A	chr22:30821293-30822190	HUVEC	blood vessel:	n/a	n/a
31	MAX	chr22:30821378-30822886	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr22:30818136-30822953	HCT-116	colon:	n/a	n/a
33	RELA	chr22:30821480-30822846	GM19099	blood:	n/a	n/a
34	ZBTB7A	chr22:30821384-30822032	K562	blood:	n/a	n/a
35	E2F6	chr22:30821296-30822406	A549	lung:	n/a	chr22:30821854-30821865
36	RUNX3	chr22:30821420-30821916	GM12878	blood:	n/a	n/a
37	GATA2	chr22:30821478-30822067	SH-SY5Y	brain:	n/a	n/a
38	MAX	chr22:30821411-30822862	Hela-S3	cervix:	n/a	n/a
39	RELA	chr22:30819662-30822768	GM18505	blood:	n/a	n/a
40	MAX	chr22:30821424-30822224	H1-hESC	embryonic stem cell:	n/a	n/a
41	MYBL2	chr22:30821339-30821860	HepG2	liver:	n/a	n/a
42	MYBL2	chr22:30821372-30822126	HepG2	liver:	n/a	n/a
43	POLR2A	chr22:30818112-30822831	U87	brain:	n/a	n/a
44	CTCF	chr22:30821440-30821590	AG04450	lung:	n/a	n/a
45	TAF1	chr22:30821458-30821842	A549	lung:	n/a	n/a
46	RCOR1	chr22:30821158-30822845	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr22:30821343-30822899	HCT-116	colon:	n/a	n/a
48	MAX	chr22:30818624-30823057	HCT-116	colon:	n/a	n/a
49	TAF1	chr22:30821369-30822026	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr22:30818308-30822839	U87	brain:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30814763..30819112-chr22:30819393..30823307,5	MCF-7	breast:
2	chr22:30803275..30806677-chr22:30820826..30824180,3	MCF-7	breast:
3	chr22:30820440..30822751-chr22:31090157..31092444,2	MCF-7	breast:
4	chr22:30683198..30686724-chr22:30818649..30821641,4	K562	blood:
5	chr12:57480730..57482980-chr22:30821436..30824082,2	MCF-7	breast:
6	chr22:30816361..30822733-chr22:30829064..30833429,8	K562	blood:
7	chr22:30683198..30685731-chr22:30819153..30821641,4	K562	blood:
8	chr22:30722829..30724775-chr22:30819297..30822266,2	MCF-7	breast:
9	chr22:30791754..30798377-chr22:30814746..30822334,13	K562	blood:
10	chr22:30801331..30806439-chr22:30816907..30821751,5	K562	blood:
11	chr22:30684393..30686613-chr22:30820961..30823363,3	MCF-7	breast:
12	chr22:30691985..30694269-chr22:30820626..30822582,2	MCF-7	breast:
13	chr22:30783066..30785199-chr22:30819529..30822458,2	K562	blood:
14	chr22:30780810..30782737-chr22:30819771..30822166,2	MCF-7	breast:
15	chr22:30787731..30797808-chr22:30813672..30825727,31	MCF-7	breast:
16	chr22:30767828..30769825-chr22:30819204..30821511,2	MCF-7	breast:

No data

Variant related genes	Relation type
MTFP1	TF binding region
ENSG00000272689	TF binding region
RNF215	TF binding region
ENSG00000203606	Chromatin interaction
ENSG00000239282	Chromatin interaction
ENSG00000273350	Chromatin interaction
ENSG00000184792	Chromatin interaction
ENSG00000187860	Chromatin interaction
ENSG00000100003	Chromatin interaction
ENSG00000166886	Chromatin interaction
ENSG00000099992	Chromatin interaction
ENSG00000249590	Chromatin interaction
ENSG00000222915	Chromatin interaction
ENSG00000272689	Chromatin interaction
ENSG00000166881	Chromatin interaction
ENSG00000099999	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs8140116	0.85[AMR][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	chr22:30818000-30821600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
2	chr22:30818400-30821600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:30818600-30821800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr22:30818600-30821800	Flanking Active TSS	NHEK	skin
5	chr22:30818600-30822400	Active TSS	Fetal Kidney	kidney
6	chr22:30818600-30822600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr22:30818600-30822600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr22:30818600-30822800	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr22:30818600-30823000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr22:30818800-30822600	Active TSS	Psoas Muscle	Psoas
11	chr22:30819000-30821800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:30819000-30822200	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr22:30819000-30822600	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr22:30819000-30822600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr22:30819000-30822800	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr22:30819200-30822600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr22:30819200-30823000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr22:30819400-30822200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr22:30819400-30823200	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr22:30820000-30822600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr22:30820200-30821600	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr22:30820200-30821600	Flanking Active TSS	Dnd41	blood
23	chr22:30820200-30821600	Flanking Active TSS	HUVEC	blood vessel
24	chr22:30820200-30822600	Flanking Active TSS	Liver	Liver
25	chr22:30820200-30822800	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr22:30820200-30822800	Flanking Active TSS	Primary B cells from peripheral blood	blood
27	chr22:30820200-30822800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr22:30820200-30822800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr22:30820200-30822800	Flanking Active TSS	NH-A	brain
30	chr22:30820200-30823000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr22:30820200-30823000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr22:30820200-30823200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr22:30820400-30821600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr22:30820400-30821600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr22:30820400-30821600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr22:30820400-30821600	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr22:30820400-30821600	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr22:30820400-30821600	Enhancers	Spleen	Spleen
39	chr22:30820400-30821600	Flanking Active TSS	Osteobl	bone
40	chr22:30820400-30821800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr22:30820400-30821800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr22:30820400-30822800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr22:30820400-30822800	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr22:30820400-30823000	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr22:30820600-30821600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr22:30820600-30821600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr22:30820600-30821600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr22:30820600-30822600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr22:30820800-30823200	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr22:30821000-30821600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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